Variant report

Variant	nsv889428
Chromosome Location	chr7:149551993-149857558
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2985)
CpG islands
(count:4399)
Chromatin interactive
region (count:53)
LncRNA
region (count:54)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:2985 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:149558472-149558699	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:149570724-149570796	K562	blood:	n/a	n/a
3	ARID3A	chr7:149582723-149583399	HepG2	liver:	n/a	n/a
4	ARID3A	chr7:149822922-149823231	HepG2	liver:	n/a	n/a
5	ARID3A	chr7:149569917-149570279	HepG2	liver:	n/a	n/a
6	ATF1	chr7:149742080-149742094	K562	blood:	n/a	n/a
7	ATF1	chr7:149700297-149700734	K562	blood:	n/a	n/a
8	ATF2	chr7:149580488-149580895	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr7:149582481-149582971	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF3	chr7:149570786-149571273	A549	lung:	n/a	n/a
11	ATF3	chr7:149551733-149552037	K562	blood:	n/a	n/a
12	ATF3	chr7:149552319-149552749	K562	blood:	n/a	n/a
13	ATF3	chr7:149570787-149571275	A549	lung:	n/a	n/a
14	ATF3	chr7:149570878-149571254	K562	blood:	n/a	n/a
15	ATF3	chr7:149569772-149570122	K562	blood:	n/a	n/a
16	BACH1	chr7:149580465-149580839	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr7:149557273-149557484	K562	blood:	n/a	n/a
18	BACH1	chr7:149746378-149746646	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr7:149672891-149673080	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr7:149570143-149571239	K562	blood:	n/a	n/a
21	BACH1	chr7:149570614-149570991	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr7:149552376-149552733	H1-hESC	embryonic stem cell:	n/a	n/a
23	BATF	chr7:149743485-149743750	GM12878	blood:	n/a	n/a
24	BATF	chr7:149568705-149569074	GM12878	blood:	n/a	n/a
25	BATF	chr7:149618320-149618563	GM12878	blood:	n/a	n/a
26	BATF	chr7:149757655-149757938	GM12878	blood:	n/a	chr7:149757827-149757838
27	BATF	chr7:149568758-149569093	GM12878	blood:	n/a	n/a
28	BCL3	chr7:149808531-149808727	GM12878	blood:	n/a	n/a
29	BCL3	chr7:149631103-149631404	GM12878	blood:	n/a	n/a
30	BCL3	chr7:149836967-149837225	GM12878	blood:	n/a	n/a
31	BCL3	chr7:149808506-149808789	GM12878	blood:	n/a	n/a
32	BCL3	chr7:149630950-149631218	GM12878	blood:	n/a	n/a
33	BCL3	chr7:149855744-149856234	GM12878	blood:	n/a	n/a
34	BCL3	chr7:149855735-149856134	GM12878	blood:	n/a	n/a
35	BHLHE40	chr7:149569494-149571562	K562	blood:	n/a	n/a
36	BHLHE40	chr7:149570710-149572354	HepG2	liver:	n/a	n/a
37	BHLHE40	chr7:149569534-149570143	HepG2	liver:	n/a	n/a
38	BHLHE40	chr7:149558356-149558979	K562	blood:	n/a	n/a
39	BHLHE40	chr7:149580418-149581011	K562	blood:	n/a	n/a
40	BHLHE40	chr7:149570982-149571281	GM12878	blood:	n/a	n/a
41	BHLHE40	chr7:149559495-149559510	K562	blood:	n/a	n/a
42	BHLHE40	chr7:149823075-149823280	HepG2	liver:	n/a	n/a
43	BHLHE40	chr7:149570284-149570668	GM12878	blood:	n/a	n/a
44	BHLHE40	chr7:149567871-149567960	K562	blood:	n/a	n/a
45	BHLHE40	chr7:149551810-149552062	HepG2	liver:	n/a	n/a
46	BHLHE40	chr7:149551704-149552143	HepG2	liver:	n/a	n/a
47	BHLHE40	chr7:149855946-149856146	K562	blood:	n/a	n/a
48	BHLHE40	chr7:149551659-149553043	K562	blood:	n/a	n/a
49	BRCA1	chr7:149571926-149572401	HepG2	liver:	n/a	n/a
50	BRCA1	chr7:149569691-149570033	HepG2	liver:	n/a	n/a

(count:4399 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:149570128-149570178	SK-N-SH	brain:	n/a
2	chr7:149569987-149570037	AG09319	gingival:	n/a
3	chr7:149569987-149570037	MCF-7	breast:	n/a
4	chr7:149558544-149558594	SK-N-MC	brain:	n/a
5	chr7:149570367-149570417	K562	blood:	n/a
6	chr7:149568778-149568828	LNCaP	prostate:	n/a
7	chr7:149571256-149571306	Jurkat	blood:	n/a
8	chr7:149570128-149570178	SK-N-SH	brain:	n/a
9	chr7:149569987-149570037	AG09319	gingival:	n/a
10	chr7:149569987-149570037	MCF-7	breast:	n/a
11	chr7:149558544-149558594	SK-N-MC	brain:	n/a
12	chr7:149570367-149570417	K562	blood:	n/a
13	chr7:149568778-149568828	LNCaP	prostate:	n/a
14	chr7:149571256-149571306	Jurkat	blood:	n/a
15	chr7:149571107-149571157	HCPEpiC	choroid plexus:	n/a
16	chr7:149568778-149568828	BJ	skin:	n/a
17	chr7:149577256-149577306	IMR90	lung:	fetal
18	chr7:149567078-149567128	IMR90	lung:	fetal
19	chr7:149570036-149570086	NB4	blood:	n/a
20	chr7:149558421-149558471	MCF-7	breast:	n/a
21	chr7:149570128-149570178	BE2_C	brain:	n/a
22	chr7:149744935-149744985	GM12878	blood:	n/a
23	chr7:149571256-149571306	ECC-1	luminal epithelium:	n/a
24	chr7:149568778-149568828	GM12892	blood:	n/a
25	chr7:149569987-149570037	AoSMC	blood vessel:	n/a
26	chr7:149559370-149559420	GM12891	blood:	n/a
27	chr7:149559471-149559521	AoSMC	blood vessel:	n/a
28	chr7:149732847-149732897	NHDF-neo	bronchial:	n/a
29	chr7:149569715-149569765	NHBE	bronchial:	n/a
30	chr7:149570989-149571039	HEEpiC	esophagus:	n/a
31	chr7:149738473-149738523	SK-N-SH	brain:	n/a
32	chr7:149767502-149767552	GM12878	blood:	n/a
33	chr7:149738473-149738523	HNPCEpiC	eye:	n/a
34	chr7:149780548-149780598	NHDF-neo	bronchial:	n/a
35	chr7:149809179-149809229	H1-hESC	embryonic stem cell:	embryo
36	chr7:149570992-149571042	HRCEpiC	kidney:	n/a
37	chr7:149733103-149733153	HEK293	kidney:	embryo
38	chr7:149570992-149571042	PFSK-1	brain:	n/a
39	chr7:149746640-149746690	AG04450	lung:	fetal
40	chr7:149558336-149558386	HNPCEpiC	eye:	n/a
41	chr7:149559370-149559420	HEK293	kidney:	embryo
42	chr7:149746077-149746127	ECC-1	luminal epithelium:	n/a
43	chr7:149767502-149767552	HepG2	liver:	n/a
44	chr7:149559370-149559420	SAEC	small airway:	n/a
45	chr7:149571017-149571067	HAEpiC	amniotic membrane:	n/a
46	chr7:149575067-149575117	LNCaP	prostate:	n/a
47	chr7:149731742-149731792	HPAEpiC	pulmonary alveolar:	n/a
48	chr7:149571146-149571196	U87	brain:	n/a
49	chr7:149570128-149570178	HNPCEpiC	eye:	n/a
50	chr7:149559471-149559521	K562	blood:	n/a

(count:53 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:149545860..149548603-chr7:149560677..149562213,2	MCF-7	breast:
2	chr7:149543572..149545726-chr7:149561938..149563805,2	K562	blood:
3	chr7:149545238..149548475-chr7:149548724..149552652,5	MCF-7	breast:
4	chr7:149561762..149564667-chr7:149569183..149572180,2	MCF-7	breast:
5	chr7:149570793..149573386-chr7:149577095..149580560,3	K562	blood:
6	chr7:149535200..149537036-chr7:149565230..149566898,2	MCF-7	breast:
7	chr7:149484191..149484692-chr7:149580431..149580931,2	K562	blood:
8	chr7:149534468..149539239-chr7:149549126..149555518,7	MCF-7	breast:
9	chr7:149320936..149323357-chr7:149569430..149571790,2	K562	blood:
10	chr7:149570115..149571658-chr7:149574660..149576811,2	MCF-7	breast:
11	chr7:149534543..149537499-chr7:149551298..149552800,2	K562	blood:
12	chr7:149555428..149558487-chr7:149568552..149571463,3	K562	blood:
13	chr7:149558310..149561559-chr7:149563222..149566237,4	K562	blood:
14	chr7:149699024..149700856-chr7:153788710..153791500,2	K562	blood:
15	chr7:149559447..149562113-chr7:149563589..149565249,2	MCF-7	breast:
16	chr7:149545730..149549860-chr7:149550271..149553318,4	K562	blood:
17	chr17:7742656..7744593-chr7:149569893..149571765,2	MCF-7	breast:
18	chr7:149479781..149482192-chr7:149551108..149553438,2	MCF-7	breast:
19	chr7:149570793..149573386-chr7:149577095..149580560,3	K562	blood:
20	chr7:149541998..149544901-chr7:149565491..149567643,2	MCF-7	breast:
21	chr7:149543499..149545502-chr7:149558401..149560374,2	K562	blood:
22	chr11:61559545..61560110-chr7:149559085..149559690,2	NB4	blood:
23	chr7:149561896..149564706-chr7:149568478..149571316,3	MCF-7	breast:
24	chr7:149555292..149556813-chr7:149559703..149561551,2	K562	blood:
25	chr7:149569895..149574234-chr7:149575186..149579607,5	K562	blood:
26	chr7:149757556..149758057-chr7:149919306..149919858,2	MCF-7	breast:
27	chr7:149580322..149580844-chr7:149745955..149746566,2	MCF-7	breast:
28	chr7:149470006..149471576-chr7:149569800..149572611,2	MCF-7	breast:
29	chr7:149555292..149556813-chr7:149559703..149561551,2	K562	blood:
30	chr7:149545678..149549284-chr7:149555199..149560671,5	K562	blood:
31	chr7:149573433..149575641-chr7:149575781..149577952,2	K562	blood:
32	chr7:149561961..149563986-chr7:149564206..149566986,2	MCF-7	breast:
33	chr7:149549543..149551998-chr7:149562107..149563696,2	MCF-7	breast:
34	chr7:149552958..149556692-chr7:149569431..149572325,5	MCF-7	breast:
35	chr7:149550819..149554150-chr7:149555857..149558406,3	K562	blood:
36	chr7:149561961..149563986-chr7:149564206..149566986,2	MCF-7	breast:
37	chr7:149565876..149568768-chr7:149569299..149572526,4	MCF-7	breast:
38	chr7:149570103..149572096-chr7:150064199..150066897,3	MCF-7	breast:
39	chr7:149479026..149480915-chr7:149553686..149555419,2	MCF-7	breast:
40	chr7:149491656..149493796-chr7:149550496..149553442,2	MCF-7	breast:
41	chr7:149551273..149553341-chr7:149558482..149560143,2	K562	blood:
42	chr7:149534869..149537140-chr7:149569608..149571872,2	MCF-7	breast:
43	chr7:149639335..149639849-chr7:153850966..153851836,2	MCF-7	breast:
44	chr7:149551273..149553341-chr7:149558482..149560143,2	K562	blood:
45	chr7:149580491..149582159-chr7:149582592..149584410,2	MCF-7	breast:
46	chr7:149549543..149551998-chr7:149562107..149563696,2	MCF-7	breast:
47	chr7:149501055..149503338-chr7:149561332..149564151,2	MCF-7	breast:
48	chr7:149570954..149573807-chr7:150065336..150068583,3	MCF-7	breast:
49	chr7:149569895..149574234-chr7:149575186..149579607,5	K562	blood:
50	chr7:149580322..149580844-chr7:149745955..149746566,2	MCF-7	breast:

(count:54 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF467-1	chr7:149568731-149568885	NONHSAT124073
2	lnc-ZNF467-1	chr7:149564861-149566947	ENSG00000204934
3	lnc-ATP6V0E2-2	chr7:149770706-149770828	ENSG00000241449
4	lnc-ATP6V0E2-2	chr7:149741839-149742195	NONHSAT124091
5	lnc-ATP6V0E2-1	chr7:149701497-149702213	ENSG00000249583
6	lnc-ATP6V0E2-7	chr7:149670980-149671663	l_3505_chr7:149670979-149676122_ovary
7	lnc-ZNF467-1	chr7:149570313-149570951	NONHSAT124073
8	lnc-ATP6V0E2-2	chr7:149771062-149771172	ENSG00000241449
9	lnc-ZNF862-2	chr7:149571077-149571258	NONHSAT124076
10	lnc-ZNF467-1	chr7:149564783-149566947	NONHSAT124073
11	lnc-ATP6V0E2-2	chr7:149738452-149738550	ENSG00000241449
12	lnc-ZNF862-2	chr7:149575767-149575879	NONHSAT124078
13	lnc-ATP6V0E2-2	chr7:149773639-149773744	ENSG00000241449
14	lnc-ZNF467-4	chr7:149699986-149700449	NONHSAT124086
15	lnc-ZNF467-1	chr7:149577458-149577699	ENSG00000204934
16	lnc-ZNF862-2	chr7:149572687-149572734	NONHSAT124078
17	lnc-ZNF467-1	chr7:149567387-149567440	ENSG00000204934
18	lnc-ATP6V0E2-7	chr7:149676088-149676122	l_3505_chr7:149670979-149676122_ovary
19	lnc-ATP6V0E2-5	chr7:149557472-149557539	NONHSAT124070
20	lnc-ZNF467-1	chr7:149567331-149567440	NONHSAT124073
21	lnc-ATP6V0E2-2	chr7:149735636-149735802	NONHSAT124088
22	lnc-ZNF467-1	chr7:149568731-149568885	ENSG00000204934
23	lnc-ZNF467-1	chr7:149570313-149570934	ENSG00000204934
24	lnc-ATP6V0E2-2	chr7:149741839-149742195	NONHSAT124088
25	lnc-ATP6V0E2-5	chr7:149556511-149556615	NONHSAT124070
26	lnc-ATP6V0E2-2	chr7:149737610-149737743	ENSG00000241449
27	lnc-ATP6V0E2-2	chr7:149774721-149774910	ucscGeneNc_uc003whi_1
28	lnc-ZNF467-4	chr7:149700614-149701513	NONHSAT124086
29	lnc-ZNF467-1	chr7:149578448-149578669	ENSG00000273293.1
30	lnc-ATP6V0E2-2	chr7:149759178-149759348	ENSG00000241449
31	lnc-ATP6V0E2-2	chr7:149761675-149761850	ucscGeneNc_uc003whi_1
32	lnc-ATP6V0E2-3	chr7:149578553-149579199	NONHSAT124082
33	lnc-ATP6V0E2-2	chr7:149770570-149771181	ucscGeneNc_uc003whi_1
34	lnc-ZNF467-1	chr7:149568731-149568885	ENSG00000204934
35	lnc-ZNF467-1	chr7:149567331-149567440	ENSG00000204934
36	lnc-ZNF862-2	chr7:149576424-149576631	NONHSAT124078
37	lnc-ZNF467-1	chr7:149564786-149566947	ENSG00000204934
38	lnc-ATP6V0E2-2	chr7:149770706-149770828	ENSG00000241449
39	lnc-ZNF467-3	chr7:149607852-149608064	expReg_chr7_11327_-
40	lnc-ATP6V0E2-5	chr7:149553063-149553450	NONHSAT124070
41	lnc-ATP6V0E2-2	chr7:149738452-149738550	NONHSAT124091
42	lnc-ATP6V0E2-2	chr7:149741839-149742195	NONHSAT124087
43	lnc-ZNF862-2	chr7:149576425-149576454	NONHSAT124076
44	lnc-ZNF467-1	chr7:149568731-149568885	ENSG00000204934
45	lnc-ATP6V0E2-1	chr7:149697841-149700167	ENSG00000249583
46	lnc-ATP6V0E2-4	chr7:149587828-149588505	ENSG00000273011.1
47	lnc-ATP6V0E2-2	chr7:149775097-149776161	ucscGeneNc_uc003whi_1
48	lnc-ZNF862-2	chr7:149571893-149572024	NONHSAT124078
49	lnc-ATP6V0E2-8	chr7:149697081-149697368	expReg_chr7_12098_+
50	lnc-ATP6V0E2-2	chr7:149737556-149737743	NONHSAT124091

No data

(count:1 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ZNF862	hsa-miR-335-5p	chr7:149562373-149562396

Variant related genes	Relation type
ZNF862	TF binding region
ENSG00000241449	TF binding region
ENSG00000273293	TF binding region
ATP6V0E2	TF binding region
ENSG00000224016	TF binding region
ATP6V0E2-AS1	TF binding region
ENSG00000273419	TF binding region
ENSG00000273011	TF binding region
ENSG00000260555	TF binding region
ZNF862	CpG island
ENSG00000241449	CpG island
ENSG00000273293	CpG island
ATP6V0E2	CpG island
ENSG00000224016	CpG island
ATP6V0E2-AS1	CpG island
ENSG00000273419	CpG island
ENSG00000273011	CpG island
ENSG00000260555	CpG island
ENSG00000214022	chromatin interactions
ENSG00000207601	chromatin interactions
ENSG00000204934	chromatin interactions
ENSG00000196456	chromatin interactions
ENSG00000106479	chromatin interactions
ENSG00000197558	chromatin interactions
ENSG00000134825	chromatin interactions
ENSG00000168496	chromatin interactions
ENSG00000133624	chromatin interactions
ENSG00000171130	chromatin interactions
ENSG00000132510	chromatin interactions
ENSG00000273293	chromatin interactions
ENSG00000181444	chromatin interactions
ENSG00000273419	chromatin interactions
MYO9A	miRNA target sites
SOCS2	miRNA target sites
SMARCC1	miRNA target sites
UBE2W	miRNA target sites
JPH1	miRNA target sites
SLC26A4	miRNA target sites
TAF5	miRNA target sites
HMGA2	miRNA target sites
HAUS8	miRNA target sites
RNF219	miRNA target sites
PRR5L	miRNA target sites
CCDC47	miRNA target sites

Extended variants
information (count: 8222 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:8222 , 50 per page) page: 1 2 3 4 5 6 7 ... 165

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4141214	chr7:149551993-149551994	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs556637324	chr7:149552004-149552005	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs542691385	chr7:149552049-149552050	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs78876958	chr7:149552052-149552053	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs73168074	chr7:149552059-149552060	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs539033529	chr7:149552102-149552103	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs552865549	chr7:149552118-149552119	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs372694770	chr7:149552168-149552169	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs142845567	chr7:149552241-149552242	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs541425173	chr7:149552279-149552280	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs111743964	chr7:149552333-149552334	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs544143256	chr7:149552337-149552338	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs577967347	chr7:149552387-149552388	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs373352260	chr7:149552411-149552412	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs10259409	chr7:149552455-149552456	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs192095091	chr7:149552514-149552515	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs532756302	chr7:149552533-149552534	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs554250442	chr7:149552535-149552536	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs184589685	chr7:149552568-149552569	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs74701024	chr7:149552578-149552579	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs528741542	chr7:149552591-149552592	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs557365133	chr7:149552643-149552644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs552044925	chr7:149552725-149552726	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs189351328	chr7:149552770-149552771	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs117314031	chr7:149552772-149552773	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs148443741	chr7:149552781-149552782	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs566990069	chr7:149552801-149552802	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs74387466	chr7:149552832-149552833	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs546343199	chr7:149552866-149552867	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs566649793	chr7:149552894-149552895	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs142622706	chr7:149553008-149553009	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs181935080	chr7:149553020-149553021	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs185797083	chr7:149553081-149553082	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
34	rs577984029	chr7:149553083-149553084	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
35	rs537406697	chr7:149553095-149553096	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
36	rs151001847	chr7:149553117-149553118	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
37	rs369823343	chr7:149553167-149553168	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
38	rs574133839	chr7:149553170-149553171	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
39	rs370642170	chr7:149553171-149553172	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
40	rs559739308	chr7:149553221-149553222	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
41	rs573383466	chr7:149553246-149553247	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
42	rs545408082	chr7:149553294-149553295	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
43	rs565559179	chr7:149553295-149553296	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
44	rs530441942	chr7:149553405-149553406	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
45	rs189420454	chr7:149553420-149553421	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
46	rs560653044	chr7:149553505-149553506	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs541309482	chr7:149553527-149553528	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs373371360	chr7:149553562-149553563	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs529779644	chr7:149553573-149553574	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs181070458	chr7:149553577-149553578	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Melanoma	20877625	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:2419 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149536400-149556400	Weak transcription	Colonic Mucosa	Colon
2	chr7:149536800-149556400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr7:149537000-149552000	Weak transcription	NHDF-Ad	bronchial
4	chr7:149537000-149556800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr7:149540000-149569600	Weak transcription	Psoas Muscle	Psoas
6	chr7:149541800-149553400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:149542400-149552200	Weak transcription	NHLF	lung
8	chr7:149542600-149561800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr7:149543000-149569600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:149543400-149552000	Weak transcription	Right Ventricle	heart
11	chr7:149544800-149554800	Weak transcription	Primary B cells from cord blood	blood
12	chr7:149545200-149552000	Weak transcription	Osteobl	bone
13	chr7:149545600-149557400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr7:149545800-149555600	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr7:149545800-149556400	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr7:149546400-149552000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:149546600-149552000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:149546600-149552000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:149547400-149556200	Weak transcription	Esophagus	oesophagus
20	chr7:149547600-149552000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr7:149547600-149552400	Weak transcription	Dnd41	blood
22	chr7:149550400-149552600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr7:149550400-149553600	Weak transcription	Aorta	Aorta
24	chr7:149550400-149554800	Weak transcription	Placenta	Placenta
25	chr7:149550400-149556400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr7:149550400-149556400	Weak transcription	Lung	lung
27	chr7:149550400-149556400	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr7:149550600-149552000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr7:149550600-149552400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr7:149550600-149556400	Weak transcription	Primary B cells from peripheral blood	blood
31	chr7:149550600-149556600	Weak transcription	Ovary	ovary
32	chr7:149550800-149553600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:149550800-149554600	Enhancers	Fetal Thymus	thymus
34	chr7:149551000-149552000	Enhancers	NH-A	brain
35	chr7:149551000-149553600	Enhancers	Primary T cells from cord blood	blood
36	chr7:149551000-149553800	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr7:149551200-149552000	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr7:149551200-149552000	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr7:149551200-149552400	Enhancers	Fetal Intestine Small	intestine
40	chr7:149551200-149552800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:149551200-149552800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:149551200-149553000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr7:149551200-149553200	Enhancers	H1 Cell Line	embryonic stem cell
44	chr7:149551200-149553400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:149551200-149554000	Enhancers	Fetal Heart	heart
46	chr7:149551200-149555000	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr7:149551200-149555200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr7:149551200-149555800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr7:149551400-149552000	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr7:149551400-149552000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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