Variant report

Variant	nsv1022103
Chromosome Location	chr7:149552534-149681561
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1856)
CpG islands
(count:2747)
Chromatin interactive
region (count:49)
LncRNA
region (count:30)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:1856 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

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	chr7:149582723-149583399	HepG2	liver:	n/a	n/a
3	ARID3A	chr7:149570724-149570796	K562	blood:	n/a	n/a
4	ARID3A	chr7:149569917-149570279	HepG2	liver:	n/a	n/a
5	ATF2	chr7:149582481-149582971	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr7:149580488-149580895	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr7:149552319-149552749	K562	blood:	n/a	n/a
8	ATF3	chr7:149570878-149571254	K562	blood:	n/a	n/a
9	ATF3	chr7:149570787-149571275	A549	lung:	n/a	n/a
10	ATF3	chr7:149569772-149570122	K562	blood:	n/a	n/a
11	ATF3	chr7:149570786-149571273	A549	lung:	n/a	n/a
12	BACH1	chr7:149552376-149552733	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr7:149570614-149570991	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr7:149672891-149673080	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr7:149570143-149571239	K562	blood:	n/a	n/a
16	BACH1	chr7:149557273-149557484	K562	blood:	n/a	n/a
17	BACH1	chr7:149580465-149580839	H1-hESC	embryonic stem cell:	n/a	n/a
18	BATF	chr7:149568705-149569074	GM12878	blood:	n/a	n/a
19	BATF	chr7:149618320-149618563	GM12878	blood:	n/a	n/a
20	BATF	chr7:149568758-149569093	GM12878	blood:	n/a	n/a
21	BCL3	chr7:149631103-149631404	GM12878	blood:	n/a	n/a
22	BCL3	chr7:149630950-149631218	GM12878	blood:	n/a	n/a
23	BHLHE40	chr7:149580418-149581011	K562	blood:	n/a	n/a
24	BHLHE40	chr7:149559495-149559510	K562	blood:	n/a	n/a
25	BHLHE40	chr7:149570284-149570668	GM12878	blood:	n/a	n/a
26	BHLHE40	chr7:149551659-149553043	K562	blood:	n/a	n/a
27	BHLHE40	chr7:149570710-149572354	HepG2	liver:	n/a	n/a
28	BHLHE40	chr7:149567871-149567960	K562	blood:	n/a	n/a
29	BHLHE40	chr7:149570982-149571281	GM12878	blood:	n/a	n/a
30	BHLHE40	chr7:149569534-149570143	HepG2	liver:	n/a	n/a
31	BHLHE40	chr7:149558356-149558979	K562	blood:	n/a	n/a
32	BHLHE40	chr7:149569494-149571562	K562	blood:	n/a	n/a
33	BRCA1	chr7:149571926-149572401	HepG2	liver:	n/a	n/a
34	BRCA1	chr7:149581295-149581426	HepG2	liver:	n/a	n/a
35	BRCA1	chr7:149571389-149571516	HepG2	liver:	n/a	n/a
36	BRCA1	chr7:149558532-149558669	HepG2	liver:	n/a	n/a
37	BRCA1	chr7:149551750-149552755	H1-hESC	embryonic stem cell:	n/a	n/a
38	BRCA1	chr7:149569691-149570033	HepG2	liver:	n/a	n/a
39	BRCA1	chr7:149561921-149562021	HepG2	liver:	n/a	n/a
40	BRCA1	chr7:149570995-149571386	GM12878	blood:	n/a	n/a
41	CBX3	chr7:149569402-149571354	K562	blood:	n/a	n/a
42	CBX3	chr7:149558335-149558944	K562	blood:	n/a	n/a
43	CBX3	chr7:149569381-149570140	K562	blood:	n/a	n/a
44	CCNT2	chr7:149565719-149565772	K562	blood:	n/a	n/a
45	CCNT2	chr7:149558398-149558816	K562	blood:	n/a	n/a
46	CCNT2	chr7:149570061-149571478	K562	blood:	n/a	n/a
47	CEBPB	chr7:149571848-149572136	HepG2	liver:	n/a	n/a
48	CEBPB	chr7:149600659-149600827	HepG2	liver:	n/a	chr7:149600686-149600697
49	CEBPB	chr7:149667593-149667795	HepG2	liver:	n/a	chr7:149667743-149667754
50	CEBPB	chr7:149569947-149570077	HepG2	liver:	n/a	n/a

(count:2747 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:149569946-149569996	HCM	heart:	n/a
2	chr7:149569883-149569933	MCF10A-Er-Src	breast:	n/a
3	chr7:149569946-149569996	HCM	heart:	n/a
4	chr7:149569883-149569933	MCF10A-Er-Src	breast:	n/a
5	chr7:149571107-149571157	PFSK-1	brain:	n/a
6	chr7:149570931-149570981	HRE	kidney:	n/a
7	chr7:149557121-149557171	H1-hESC	embryonic stem cell:	embryo
8	chr7:149570036-149570086	AG10803	skin:	n/a
9	chr7:149558336-149558386	Caco-2	colon:	n/a
10	chr7:149569987-149570037	SKMC	muscle:	n/a
11	chr7:149575067-149575117	NB4	blood:	n/a
12	chr7:149569946-149569996	T-47D	breast:	n/a
13	chr7:149568525-149568575	AG09319	gingival:	n/a
14	chr7:149570163-149570213	HL-60	blood:	n/a
15	chr7:149571094-149571144	ovcar-3	ovarian:	n/a
16	chr7:149558421-149558471	BE2_C	brain:	n/a
17	chr7:149570071-149570121	AG09309	skin:	n/a
18	chr7:149570163-149570213	H1-hESC	embryonic stem cell:	embryo
19	chr7:149571146-149571196	HRPEpiC	eye:	n/a
20	chr7:149569715-149569765	A549	lung:	n/a
21	chr7:149582572-149582622	SAEC	small airway:	n/a
22	chr7:149577256-149577306	HAEpiC	amniotic membrane:	n/a
23	chr7:149578441-149578491	HMEC	breast:	n/a
24	chr7:149558421-149558471	IMR90	lung:	fetal
25	chr7:149571373-149571423	A549	lung:	n/a
26	chr7:149570163-149570213	HUVEC	blood vessel:	n/a
27	chr7:149570163-149570213	SK-N-SH_RA	brain:	n/a
28	chr7:149571094-149571144	K562	blood:	n/a
29	chr7:149575067-149575117	AG09319	gingival:	n/a
30	chr7:149568525-149568575	HIPEpiC	eye:	n/a
31	chr7:149571982-149572032	Jurkat	blood:	n/a
32	chr7:149557121-149557171	NB4	blood:	n/a
33	chr7:149570367-149570417	HNPCEpiC	eye:	n/a
34	chr7:149570163-149570213	Hela-S3	cervix:	n/a
35	chr7:149571146-149571196	H1-hESC	embryonic stem cell:	embryo
36	chr7:149570163-149570213	HPAEpiC	pulmonary alveolar:	n/a
37	chr7:149570367-149570417	NHBE	bronchial:	n/a
38	chr7:149570367-149570417	HRPEpiC	eye:	n/a
39	chr7:149554896-149554946	K562	blood:	n/a
40	chr7:149562623-149562673	SAEC	small airway:	n/a
41	chr7:149577256-149577306	HL-60	blood:	n/a
42	chr7:149571111-149571161	HCM	heart:	n/a
43	chr7:149578441-149578491	AG09319	gingival:	n/a
44	chr7:149558421-149558471	AoSMC	blood vessel:	n/a
45	chr7:149569776-149569826	NH-A	brain:	n/a
46	chr7:149568778-149568828	H1-hESC	embryonic stem cell:	embryo
47	chr7:149571017-149571067	U87	brain:	n/a
48	chr7:149569883-149569933	HEEpiC	esophagus:	n/a
49	chr7:149571107-149571157	HCF	heart:	n/a
50	chr7:149569883-149569933	PFSK-1	brain:	n/a

(count:49 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:149534427..149538606-chr7:149567610..149571411,8	MCF-7	breast:
2	chr7:149555292..149556813-chr7:149559703..149561551,2	K562	blood:
3	chr7:149535200..149537036-chr7:149565230..149566898,2	MCF-7	breast:
4	chr7:149543572..149545726-chr7:149561938..149563805,2	K562	blood:
5	chr7:149479781..149482192-chr7:149551108..149553438,2	MCF-7	breast:
6	chr11:61559545..61560110-chr7:149559085..149559690,2	NB4	blood:
7	chr7:149570103..149572096-chr7:150064199..150066897,3	MCF-7	breast:
8	chr7:149561961..149563986-chr7:149564206..149566986,2	MCF-7	breast:
9	chr7:149545678..149549284-chr7:149555199..149560671,5	K562	blood:
10	chr7:149561762..149564667-chr7:149569183..149572180,2	MCF-7	breast:
11	chr7:149559447..149562113-chr7:149563589..149565249,2	MCF-7	breast:
12	chr7:149479026..149480915-chr7:149553686..149555419,2	MCF-7	breast:
13	chr7:149569895..149574234-chr7:149575186..149579607,5	K562	blood:
14	chr7:149561896..149564706-chr7:149568478..149571316,3	MCF-7	breast:
15	chr7:149639335..149639849-chr7:153850966..153851836,2	MCF-7	breast:
16	chr7:149534869..149537140-chr7:149569608..149571872,2	MCF-7	breast:
17	chr7:149543499..149545502-chr7:149558401..149560374,2	K562	blood:
18	chr7:149545860..149548603-chr7:149560677..149562213,2	MCF-7	breast:
19	chr7:149561961..149563986-chr7:149564206..149566986,2	MCF-7	breast:
20	chr7:149580491..149582159-chr7:149582592..149584410,2	MCF-7	breast:
21	chr7:149552958..149556692-chr7:149569431..149572325,5	MCF-7	breast:
22	chr7:149320936..149323357-chr7:149569430..149571790,2	K562	blood:
23	chr7:149558310..149561559-chr7:149563222..149566237,4	K562	blood:
24	chr7:149570793..149573386-chr7:149577095..149580560,3	K562	blood:
25	chr7:149501055..149503338-chr7:149561332..149564151,2	MCF-7	breast:
26	chr17:7742656..7744593-chr7:149569893..149571765,2	MCF-7	breast:
27	chr7:149541998..149544901-chr7:149565491..149567643,2	MCF-7	breast:
28	chr7:149570115..149571658-chr7:149574660..149576811,2	MCF-7	breast:
29	chr7:149573433..149575641-chr7:149575781..149577952,2	K562	blood:
30	chr7:149550819..149554150-chr7:149555857..149558406,3	K562	blood:
31	chr7:149545238..149548475-chr7:149548724..149552652,5	MCF-7	breast:
32	chr7:149484191..149484692-chr7:149580431..149580931,2	K562	blood:
33	chr7:149491656..149493796-chr7:149550496..149553442,2	MCF-7	breast:
34	chr7:149569895..149574234-chr7:149575186..149579607,5	K562	blood:
35	chr7:149534543..149537499-chr7:149551298..149552800,2	K562	blood:
36	chr7:149549543..149551998-chr7:149562107..149563696,2	MCF-7	breast:
37	chr7:149565876..149568768-chr7:149569299..149572526,4	MCF-7	breast:
38	chr7:149555428..149558487-chr7:149568552..149571463,3	K562	blood:
39	chr7:149580322..149580844-chr7:149745955..149746566,2	MCF-7	breast:
40	chr7:149570793..149573386-chr7:149577095..149580560,3	K562	blood:
41	chr7:149534468..149539239-chr7:149549126..149555518,7	MCF-7	breast:
42	chr7:149570954..149573807-chr7:150065336..150068583,3	MCF-7	breast:
43	chr7:149580491..149582159-chr7:149582592..149584410,2	MCF-7	breast:
44	chr7:149470006..149471576-chr7:149569800..149572611,2	MCF-7	breast:
45	chr7:149555292..149556813-chr7:149559703..149561551,2	K562	blood:
46	chr7:149545730..149549860-chr7:149550271..149553318,4	K562	blood:
47	chr7:149552958..149556692-chr7:149569431..149572325,5	MCF-7	breast:
48	chr7:149551273..149553341-chr7:149558482..149560143,2	K562	blood:
49	chr7:149551273..149553341-chr7:149558482..149560143,2	K562	blood:

(count:30 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF862-2	chr7:149572688-149572734	NONHSAT124076
2	lnc-ZNF862-2	chr7:149571077-149571258	NONHSAT124076
3	lnc-ATP6V0E2-5	chr7:149556511-149556615	NONHSAT124070
4	lnc-ZNF467-1	chr7:149567387-149567440	ENSG00000204934
5	lnc-ZNF467-1	chr7:149564783-149566947	NONHSAT124073
6	lnc-ATP6V0E2-7	chr7:149670980-149671663	l_3505_chr7:149670979-149676122_ovary
7	lnc-ZNF467-1	chr7:149567331-149567440	ENSG00000204934
8	lnc-ATP6V0E2-5	chr7:149553063-149553450	NONHSAT124070
9	lnc-ZNF467-1	chr7:149568731-149568885	ENSG00000204934
10	lnc-ZNF467-1	chr7:149568731-149568885	ENSG00000204934
11	lnc-ZNF467-1	chr7:149568731-149568885	NONHSAT124073
12	lnc-ZNF862-2	chr7:149576424-149576631	NONHSAT124078
13	lnc-ZNF467-1	chr7:149570313-149570934	ENSG00000204934
14	lnc-ZNF467-1	chr7:149577458-149577699	ENSG00000204934
15	lnc-ZNF862-2	chr7:149575767-149575879	NONHSAT124078
16	lnc-ZNF467-1	chr7:149570313-149570951	NONHSAT124073
17	lnc-ZNF467-3	chr7:149607852-149608064	expReg_chr7_11327_-
18	lnc-ATP6V0E2-7	chr7:149676088-149676122	l_3505_chr7:149670979-149676122_ovary
19	lnc-ZNF467-1	chr7:149567331-149567440	NONHSAT124073
20	lnc-ZNF467-1	chr7:149570313-149570931	ENSG00000204934
21	lnc-ATP6V0E2-4	chr7:149587828-149588505	ENSG00000273011.1
22	lnc-ATP6V0E2-5	chr7:149557472-149557539	NONHSAT124070
23	lnc-ATP6V0E2-3	chr7:149578553-149579199	NONHSAT124082
24	lnc-ZNF467-1	chr7:149578448-149578669	ENSG00000273293.1
25	lnc-ZNF467-1	chr7:149564786-149566947	ENSG00000204934
26	lnc-ZNF862-2	chr7:149572687-149572734	NONHSAT124078
27	lnc-ZNF467-1	chr7:149564861-149566947	ENSG00000204934
28	lnc-ZNF467-1	chr7:149568731-149568885	ENSG00000204934
29	lnc-ZNF862-2	chr7:149571893-149572024	NONHSAT124078
30	lnc-ZNF862-2	chr7:149576425-149576454	NONHSAT124076

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

Extended variants
information (count: 3015 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:3015 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	rs142622706	chr7:149553008-149553009	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs181935080	chr7:149553020-149553021	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs185797083	chr7:149553081-149553082	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
17	rs577984029	chr7:149553083-149553084	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
18	rs537406697	chr7:149553095-149553096	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
19	rs151001847	chr7:149553117-149553118	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
20	rs369823343	chr7:149553167-149553168	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
21	rs574133839	chr7:149553170-149553171	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
22	rs370642170	chr7:149553171-149553172	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
23	rs559739308	chr7:149553221-149553222	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
24	rs573383466	chr7:149553246-149553247	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
25	rs545408082	chr7:149553294-149553295	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
26	rs565559179	chr7:149553295-149553296	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
27	rs530441942	chr7:149553405-149553406	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
28	rs189420454	chr7:149553420-149553421	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
29	rs560653044	chr7:149553505-149553506	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs541309482	chr7:149553527-149553528	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs373371360	chr7:149553562-149553563	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs529779644	chr7:149553573-149553574	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs181070458	chr7:149553577-149553578	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs80347262	chr7:149553601-149553602	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs139642485	chr7:149553607-149553608	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs144550137	chr7:149553619-149553620	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs572764366	chr7:149553672-149553673	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs77279259	chr7:149553673-149553674	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs537441881	chr7:149553687-149553688	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs557349196	chr7:149553712-149553713	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs574075404	chr7:149553816-149553817	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs7783965	chr7:149553819-149553820	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs553411136	chr7:149553868-149553869	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs573394109	chr7:149553881-149553882	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs186432114	chr7:149553916-149553917	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs565462901	chr7:149553927-149553928	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs575486483	chr7:149553938-149553939	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs190253915	chr7:149553941-149553942	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs75227167	chr7:149553942-149553943	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs182771314	chr7:149553946-149553947	Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

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

Chromatin state (count:1794 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

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	chr7:149537000-149556800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:149540000-149569600	Weak transcription	Psoas Muscle	Psoas
5	chr7:149541800-149553400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:149542600-149561800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:149543000-149569600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:149544800-149554800	Weak transcription	Primary B cells from cord blood	blood
9	chr7:149545600-149557400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr7:149545800-149555600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr7:149545800-149556400	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr7:149547400-149556200	Weak transcription	Esophagus	oesophagus
13	chr7:149550400-149552600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr7:149550400-149553600	Weak transcription	Aorta	Aorta
15	chr7:149550400-149554800	Weak transcription	Placenta	Placenta
16	chr7:149550400-149556400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr7:149550400-149556400	Weak transcription	Lung	lung
18	chr7:149550400-149556400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr7:149550600-149556400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr7:149550600-149556600	Weak transcription	Ovary	ovary
21	chr7:149550800-149553600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:149550800-149554600	Enhancers	Fetal Thymus	thymus
23	chr7:149551000-149553600	Enhancers	Primary T cells from cord blood	blood
24	chr7:149551000-149553800	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr7:149551200-149552800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:149551200-149552800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:149551200-149553000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:149551200-149553200	Enhancers	H1 Cell Line	embryonic stem cell
29	chr7:149551200-149553400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr7:149551200-149554000	Enhancers	Fetal Heart	heart
31	chr7:149551200-149555000	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr7:149551200-149555200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr7:149551200-149555800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr7:149551400-149552800	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr7:149551400-149552800	Enhancers	Fetal Stomach	stomach
36	chr7:149551400-149553000	Enhancers	HSMMtube	muscle
37	chr7:149551400-149553200	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr7:149551400-149553200	Enhancers	Brain Cingulate Gyrus	brain
39	chr7:149551400-149553200	Enhancers	Fetal Lung	lung
40	chr7:149551400-149553400	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr7:149551400-149553400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:149551400-149553400	Enhancers	Colon Smooth Muscle	Colon
43	chr7:149551400-149553600	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr7:149551400-149555000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr7:149551400-149555000	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr7:149551400-149555200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr7:149551600-149552600	Enhancers	Duodenum Mucosa	Duodenum
48	chr7:149551600-149552800	Enhancers	Brain Germinal Matrix	brain
49	chr7:149551600-149552800	Enhancers	Brain Hippocampus Middle	brain
50	chr7:149551600-149553000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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