Variant report

Variant	nsv889423
Chromosome Location	chr7:149547703-149838371
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2964)
CpG islands
(count:4402)
Chromatin interactive
region (count:61)
LncRNA
region (count:54)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:2964 , 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	chr7:149570724-149570796	K562	blood:	n/a	n/a
2	ARID3A	chr7:149582723-149583399	HepG2	liver:	n/a	n/a
3	ARID3A	chr7:149822922-149823231	HepG2	liver:	n/a	n/a
4	ARID3A	chr7:149569917-149570279	HepG2	liver:	n/a	n/a
5	ARID3A	chr7:149558472-149558699	HepG2	liver:	n/a	n/a
6	ATF1	chr7:149700297-149700734	K562	blood:	n/a	n/a
7	ATF1	chr7:149742080-149742094	K562	blood:	n/a	n/a
8	ATF2	chr7:149582481-149582971	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr7:149580488-149580895	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF3	chr7:149570787-149571275	A549	lung:	n/a	n/a
11	ATF3	chr7:149569772-149570122	K562	blood:	n/a	n/a
12	ATF3	chr7:149552319-149552749	K562	blood:	n/a	n/a
13	ATF3	chr7:149570878-149571254	K562	blood:	n/a	n/a
14	ATF3	chr7:149570786-149571273	A549	lung:	n/a	n/a
15	ATF3	chr7:149551733-149552037	K562	blood:	n/a	n/a
16	BACH1	chr7:149746378-149746646	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr7:149552376-149552733	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr7:149672891-149673080	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr7:149580465-149580839	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr7:149557273-149557484	K562	blood:	n/a	n/a
21	BACH1	chr7:149570614-149570991	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr7:149570143-149571239	K562	blood:	n/a	n/a
23	BATF	chr7:149743485-149743750	GM12878	blood:	n/a	n/a
24	BATF	chr7:149568758-149569093	GM12878	blood:	n/a	n/a
25	BATF	chr7:149568705-149569074	GM12878	blood:	n/a	n/a
26	BATF	chr7:149618320-149618563	GM12878	blood:	n/a	n/a
27	BATF	chr7:149757655-149757938	GM12878	blood:	n/a	chr7:149757827-149757838
28	BCL3	chr7:149631103-149631404	GM12878	blood:	n/a	n/a
29	BCL3	chr7:149808506-149808789	GM12878	blood:	n/a	n/a
30	BCL3	chr7:149808531-149808727	GM12878	blood:	n/a	n/a
31	BCL3	chr7:149630950-149631218	GM12878	blood:	n/a	n/a
32	BCL3	chr7:149836967-149837225	GM12878	blood:	n/a	n/a
33	BHLHE40	chr7:149551704-149552143	HepG2	liver:	n/a	n/a
34	BHLHE40	chr7:149567871-149567960	K562	blood:	n/a	n/a
35	BHLHE40	chr7:149569534-149570143	HepG2	liver:	n/a	n/a
36	BHLHE40	chr7:149570982-149571281	GM12878	blood:	n/a	n/a
37	BHLHE40	chr7:149548766-149548797	K562	blood:	n/a	n/a
38	BHLHE40	chr7:149570284-149570668	GM12878	blood:	n/a	n/a
39	BHLHE40	chr7:149551659-149553043	K562	blood:	n/a	n/a
40	BHLHE40	chr7:149569494-149571562	K562	blood:	n/a	n/a
41	BHLHE40	chr7:149558356-149558979	K562	blood:	n/a	n/a
42	BHLHE40	chr7:149551810-149552062	HepG2	liver:	n/a	n/a
43	BHLHE40	chr7:149580418-149581011	K562	blood:	n/a	n/a
44	BHLHE40	chr7:149551144-149551378	K562	blood:	n/a	n/a
45	BHLHE40	chr7:149559495-149559510	K562	blood:	n/a	n/a
46	BHLHE40	chr7:149823075-149823280	HepG2	liver:	n/a	n/a
47	BHLHE40	chr7:149570710-149572354	HepG2	liver:	n/a	n/a
48	BRCA1	chr7:149571389-149571516	HepG2	liver:	n/a	n/a
49	BRCA1	chr7:149551750-149552755	H1-hESC	embryonic stem cell:	n/a	n/a
50	BRCA1	chr7:149570995-149571386	GM12878	blood:	n/a	n/a

(count:4402 , 50 per page) page: 1 2 3 4 5 6 7 ... 89

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:149578441-149578491	BJ	skin:	n/a
2	chr7:149742121-149742171	AG10803	skin:	n/a
3	chr7:149571017-149571067	GM19239	blood:	n/a
4	chr7:149746468-149746518	SK-N-SH_RA	brain:	n/a
5	chr7:149569715-149569765	HUVEC	blood vessel:	n/a
6	chr7:149570992-149571042	HRPEpiC	eye:	n/a
7	chr7:149559370-149559420	PANC-1	pancreas:	n/a
8	chr7:149749941-149749991	AoSMC	blood vessel:	n/a
9	chr7:149745299-149745349	SK-N-SH_RA	brain:	n/a
10	chr7:149571146-149571196	HCM	heart:	n/a
11	chr7:149578441-149578491	BJ	skin:	n/a
12	chr7:149742121-149742171	AG10803	skin:	n/a
13	chr7:149571017-149571067	GM19239	blood:	n/a
14	chr7:149746468-149746518	SK-N-SH_RA	brain:	n/a
15	chr7:149569715-149569765	HUVEC	blood vessel:	n/a
16	chr7:149570992-149571042	HRPEpiC	eye:	n/a
17	chr7:149559370-149559420	PANC-1	pancreas:	n/a
18	chr7:149749941-149749991	AoSMC	blood vessel:	n/a
19	chr7:149745299-149745349	SK-N-SH_RA	brain:	n/a
20	chr7:149571146-149571196	HCM	heart:	n/a
21	chr7:149571107-149571157	H1-hESC	embryonic stem cell:	embryo
22	chr7:149731742-149731792	SKMC	muscle:	n/a
23	chr7:149571017-149571067	NHDF-neo	bronchial:	n/a
24	chr7:149733103-149733153	PrEC	prostate:	n/a
25	chr7:149809179-149809229	A549	lung:	n/a
26	chr7:149559426-149559476	AG09309	skin:	n/a
27	chr7:149578441-149578491	CMK	blood:	n/a
28	chr7:149569776-149569826	HRPEpiC	eye:	n/a
29	chr7:149767502-149767552	HAEpiC	amniotic membrane:	n/a
30	chr7:149744418-149744468	SAEC	small airway:	n/a
31	chr7:149558544-149558594	MCF-7	breast:	n/a
32	chr7:149582572-149582622	Caco-2	colon:	n/a
33	chr7:149554896-149554946	T-47D	breast:	n/a
34	chr7:149558336-149558386	HCF	heart:	n/a
35	chr7:149559426-149559476	GM06990	blood:	n/a
36	chr7:149569946-149569996	MCF10A-Er-Src	breast:	n/a
37	chr7:149642580-149642630	HepG2	liver:	n/a
38	chr7:149571017-149571067	HEK293	kidney:	embryo
39	chr7:149735729-149735779	HEK293	kidney:	embryo
40	chr7:149570128-149570178	AG04450	lung:	fetal
41	chr7:149571373-149571423	BJ	skin:	n/a
42	chr7:149571180-149571230	PrEC	prostate:	n/a
43	chr7:149733103-149733153	GM12892	blood:	n/a
44	chr7:149575067-149575117	HRPEpiC	eye:	n/a
45	chr7:149746468-149746518	BJ	skin:	n/a
46	chr7:149571111-149571161	SAEC	small airway:	n/a
47	chr7:149578441-149578491	ProgFib	skin:	n/a
48	chr7:149780548-149780598	AG09319	gingival:	n/a
49	chr7:149570183-149570233	Jurkat	blood:	n/a
50	chr7:149569715-149569765	MCF10A-Er-Src	breast:	n/a

(count:61 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:149757556..149758057-chr7:149919306..149919858,2	MCF-7	breast:
2	chr7:149580322..149580844-chr7:149745955..149746566,2	MCF-7	breast:
3	chr7:149491656..149493796-chr7:149550496..149553442,2	MCF-7	breast:
4	chr7:149545730..149549860-chr7:149550271..149553318,4	K562	blood:
5	chr7:149550819..149554150-chr7:149555857..149558406,3	K562	blood:
6	chr7:149580491..149582159-chr7:149582592..149584410,2	MCF-7	breast:
7	chr7:149470006..149471576-chr7:149569800..149572611,2	MCF-7	breast:
8	chr7:149549543..149551998-chr7:149562107..149563696,2	MCF-7	breast:
9	chr7:149543572..149545726-chr7:149561938..149563805,2	K562	blood:
10	chr7:149561961..149563986-chr7:149564206..149566986,2	MCF-7	breast:
11	chr7:149570793..149573386-chr7:149577095..149580560,3	K562	blood:
12	chr7:149570793..149573386-chr7:149577095..149580560,3	K562	blood:
13	chr7:149534468..149539239-chr7:149549126..149555518,7	MCF-7	breast:
14	chr7:149320936..149323357-chr7:149569430..149571790,2	K562	blood:
15	chr7:149561896..149564706-chr7:149568478..149571316,3	MCF-7	breast:
16	chr7:149535343..149536931-chr7:149547392..149550074,2	K562	blood:
17	chr7:149544639..149546472-chr7:149549112..149551336,3	K562	blood:
18	chr7:149580491..149582159-chr7:149582592..149584410,2	MCF-7	breast:
19	chr7:149545860..149548603-chr7:149560677..149562213,2	MCF-7	breast:
20	chr7:149551273..149553341-chr7:149558482..149560143,2	K562	blood:
21	chr7:149570954..149573807-chr7:150065336..150068583,3	MCF-7	breast:
22	chr7:149317848..149321563-chr7:149547555..149549907,3	K562	blood:
23	chr7:149535387..149537529-chr7:149547315..149549449,2	MCF-7	breast:
24	chr7:149545730..149549860-chr7:149550271..149553318,4	K562	blood:
25	chr7:149580322..149580844-chr7:149745955..149746566,2	MCF-7	breast:
26	chr7:149535200..149537036-chr7:149565230..149566898,2	MCF-7	breast:
27	chr7:149552958..149556692-chr7:149569431..149572325,5	MCF-7	breast:
28	chr7:149555292..149556813-chr7:149559703..149561551,2	K562	blood:
29	chr7:149479026..149480915-chr7:149553686..149555419,2	MCF-7	breast:
30	chr7:149543499..149545502-chr7:149558401..149560374,2	K562	blood:
31	chr7:149534869..149537140-chr7:149569608..149571872,2	MCF-7	breast:
32	chr7:149561961..149563986-chr7:149564206..149566986,2	MCF-7	breast:
33	chr7:149552958..149556692-chr7:149569431..149572325,5	MCF-7	breast:
34	chr7:149699024..149700856-chr7:153788710..153791500,2	K562	blood:
35	chr7:149555292..149556813-chr7:149559703..149561551,2	K562	blood:
36	chr7:149479781..149482192-chr7:149551108..149553438,2	MCF-7	breast:
37	chr7:149569895..149574234-chr7:149575186..149579607,5	K562	blood:
38	chr7:149570103..149572096-chr7:150064199..150066897,3	MCF-7	breast:
39	chr7:149565876..149568768-chr7:149569299..149572526,4	MCF-7	breast:
40	chr7:149549543..149551998-chr7:149562107..149563696,2	MCF-7	breast:
41	chr7:149573433..149575641-chr7:149575781..149577952,2	K562	blood:
42	chr7:149534427..149538606-chr7:149567610..149571411,8	MCF-7	breast:
43	chr7:149569895..149574234-chr7:149575186..149579607,5	K562	blood:
44	chr7:149545678..149549284-chr7:149555199..149560671,5	K562	blood:
45	chr7:149545238..149548475-chr7:149548724..149552652,5	MCF-7	breast:
46	chr7:149570115..149571658-chr7:149574660..149576811,2	MCF-7	breast:
47	chr17:7742656..7744593-chr7:149569893..149571765,2	MCF-7	breast:
48	chr7:149541998..149544901-chr7:149565491..149567643,2	MCF-7	breast:
49	chr7:149547476..149550736-chr7:149568878..149571738,3	K562	blood:
50	chr7:149555428..149558487-chr7:149568552..149571463,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP6V0E2-3	chr7:149578553-149579199	NONHSAT124082
2	lnc-ZNF467-1	chr7:149567387-149567440	ENSG00000204934
3	lnc-ZNF467-1	chr7:149567331-149567440	ENSG00000204934
4	lnc-ZNF467-4	chr7:149700614-149701513	NONHSAT124086
5	lnc-ATP6V0E2-2	chr7:149732185-149732207	NONHSAT124087
6	lnc-ATP6V0E2-2	chr7:149770570-149771181	ucscGeneNc_uc003whi_1
7	lnc-ZNF467-1	chr7:149570313-149570931	ENSG00000204934
8	lnc-ZNF467-1	chr7:149564786-149566947	ENSG00000204934
9	lnc-ATP6V0E2-2	chr7:149741839-149742195	NONHSAT124088
10	lnc-ZNF862-2	chr7:149572688-149572734	NONHSAT124076
11	lnc-ZNF467-1	chr7:149577458-149577699	ENSG00000204934
12	lnc-ATP6V0E2-2	chr7:149737610-149737743	ENSG00000241449
13	lnc-ZNF467-1	chr7:149568731-149568885	ENSG00000204934
14	lnc-ZNF467-1	chr7:149567331-149567440	NONHSAT124073
15	lnc-ATP6V0E2-7	chr7:149676088-149676122	l_3505_chr7:149670979-149676122_ovary
16	lnc-ATP6V0E2-2	chr7:149741839-149742195	NONHSAT124091
17	lnc-ZNF467-3	chr7:149607852-149608064	expReg_chr7_11327_-
18	lnc-ZNF862-2	chr7:149572687-149572734	NONHSAT124078
19	lnc-ATP6V0E2-2	chr7:149738452-149738550	NONHSAT124091
20	lnc-ATP6V0E2-2	chr7:149771062-149771465	ENSG00000241449
21	lnc-ATP6V0E2-2	chr7:149770706-149770828	ENSG00000241449
22	lnc-ATP6V0E2-2	chr7:149770706-149770828	ENSG00000241449
23	lnc-ZNF467-1	chr7:149578448-149578669	ENSG00000273293.1
24	lnc-ATP6V0E2-2	chr7:149741839-149742195	NONHSAT124087
25	lnc-ZNF467-1	chr7:149568731-149568885	ENSG00000204934
26	lnc-ATP6V0E2-2	chr7:149738452-149738550	ENSG00000241449
27	lnc-ATP6V0E2-1	chr7:149697841-149700167	ENSG00000249583
28	lnc-ATP6V0E2-5	chr7:149557472-149557539	NONHSAT124070
29	lnc-ZNF862-2	chr7:149571077-149571258	NONHSAT124076
30	lnc-ZNF862-2	chr7:149575767-149575879	NONHSAT124078
31	lnc-ATP6V0E2-8	chr7:149697081-149697368	expReg_chr7_12098_+
32	lnc-ATP6V0E2-2	chr7:149775097-149776161	ucscGeneNc_uc003whi_1
33	lnc-ATP6V0E2-2	chr7:149773639-149773744	ENSG00000241449
34	lnc-ATP6V0E2-7	chr7:149670980-149671663	l_3505_chr7:149670979-149676122_ovary
35	lnc-ATP6V0E2-2	chr7:149761675-149761850	ucscGeneNc_uc003whi_1
36	lnc-ZNF862-2	chr7:149576425-149576454	NONHSAT124076
37	lnc-ATP6V0E2-2	chr7:149774721-149774910	ucscGeneNc_uc003whi_1
38	lnc-ATP6V0E2-2	chr7:149735636-149735802	NONHSAT124088
39	lnc-ZNF862-2	chr7:149576424-149576631	NONHSAT124078
40	lnc-ATP6V0E2-2	chr7:149759178-149759348	ENSG00000241449
41	lnc-ATP6V0E2-5	chr7:149553063-149553450	NONHSAT124070
42	lnc-ZNF467-1	chr7:149564783-149566947	NONHSAT124073
43	lnc-ZNF467-1	chr7:149568731-149568885	NONHSAT124073
44	lnc-ZNF467-1	chr7:149564861-149566947	ENSG00000204934
45	lnc-ZNF467-1	chr7:149570313-149570934	ENSG00000204934
46	lnc-ZNF467-1	chr7:149568731-149568885	ENSG00000204934
47	lnc-ATP6V0E2-1	chr7:149701497-149702213	ENSG00000249583
48	lnc-ZNF862-2	chr7:149571893-149572024	NONHSAT124078
49	lnc-ATP6V0E2-5	chr7:149556511-149556615	NONHSAT124070
50	lnc-ATP6V0E2-2	chr7:149771062-149771172	ENSG00000241449

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

Extended variants
information (count: 8111 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:8111 , 50 per page) page: 1 2 3 4 5 6 7 ... 163

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2074699	chr7:149547703-149547704	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs553354761	chr7:149547719-149547720	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs573382939	chr7:149547723-149547724	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs186168235	chr7:149547748-149547749	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs559005568	chr7:149547799-149547800	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs534114653	chr7:149547943-149547944	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs116701435	chr7:149547965-149547966	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs555339357	chr7:149547990-149547991	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs573788574	chr7:149548006-149548007	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs17172937	chr7:149548009-149548010	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs574745792	chr7:149548010-149548011	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs539853968	chr7:149548035-149548036	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs559759865	chr7:149548046-149548047	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs562337041	chr7:149548077-149548078	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs532132559	chr7:149548085-149548086	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs552017825	chr7:149548098-149548099	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs149022853	chr7:149548111-149548112	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs190997154	chr7:149548112-149548113	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs548374984	chr7:149548180-149548181	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs183310520	chr7:149548190-149548191	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs577356505	chr7:149548204-149548205	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs544686113	chr7:149548206-149548207	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs560118212	chr7:149548226-149548227	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs188140794	chr7:149548247-149548248	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs190489388	chr7:149548248-149548249	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs527259420	chr7:149548279-149548280	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs566798715	chr7:149548309-149548310	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs549662896	chr7:149548368-149548369	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs539007880	chr7:149548397-149548398	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs182990342	chr7:149548441-149548442	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs569306815	chr7:149548521-149548522	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs538053823	chr7:149548525-149548526	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs145787762	chr7:149548532-149548533	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs62492844	chr7:149548541-149548542	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs556792442	chr7:149548546-149548547	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs565628848	chr7:149548581-149548582	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs2057877	chr7:149548583-149548584	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs10243039	chr7:149548591-149548592	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs576794949	chr7:149548594-149548595	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs561378442	chr7:149548616-149548617	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs545746903	chr7:149548620-149548621	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs187712131	chr7:149548632-149548633	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs531391123	chr7:149548647-149548648	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs147791091	chr7:149548656-149548657	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs561906155	chr7:149548688-149548689	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs376425224	chr7:149548691-149548692	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs547742011	chr7:149548692-149548693	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs570691787	chr7:149548694-149548695	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs539063327	chr7:149548728-149548729	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs552495943	chr7:149548758-149548759	Weak transcription Strong transcription	Chromatin interactive region	5 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:2589 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149536400-149556400	Weak transcription	Colonic Mucosa	Colon
2	chr7:149536600-149551600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:149536800-149551400	Weak transcription	HSMMtube	muscle
4	chr7:149536800-149556400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr7:149537000-149551400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr7:149537000-149551400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr7:149537000-149551400	Weak transcription	Fetal Kidney	kidney
8	chr7:149537000-149551400	Weak transcription	Fetal Lung	lung
9	chr7:149537000-149551600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:149537000-149551600	Weak transcription	Gastric	stomach
11	chr7:149537000-149551600	Weak transcription	NHEK	skin
12	chr7:149537000-149551800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:149537000-149552000	Weak transcription	NHDF-Ad	bronchial
14	chr7:149537000-149556800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr7:149537200-149551400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr7:149537200-149551800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:149539800-149551200	Weak transcription	Fetal Heart	heart
18	chr7:149540000-149551600	Weak transcription	Pancreas	Pancrea
19	chr7:149540000-149551800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:149540000-149569600	Weak transcription	Psoas Muscle	Psoas
21	chr7:149541200-149550800	Strong transcription	Fetal Muscle Leg	muscle
22	chr7:149541600-149550000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:149541800-149550600	Strong transcription	Stomach Smooth Muscle	stomach
24	chr7:149541800-149550800	Strong transcription	Fetal Stomach	stomach
25	chr7:149541800-149553400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:149542000-149550800	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr7:149542200-149549600	Weak transcription	Colon Smooth Muscle	Colon
28	chr7:149542400-149551000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr7:149542400-149552200	Weak transcription	NHLF	lung
30	chr7:149542600-149548200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr7:149542600-149561800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr7:149543000-149569600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:149543400-149552000	Weak transcription	Right Ventricle	heart
34	chr7:149543600-149549800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr7:149544600-149548000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr7:149544800-149550000	Weak transcription	Primary B cells from peripheral blood	blood
37	chr7:149544800-149550600	Strong transcription	Fetal Intestine Small	intestine
38	chr7:149544800-149554800	Weak transcription	Primary B cells from cord blood	blood
39	chr7:149545000-149547800	Strong transcription	Adipose Nuclei	Adipose
40	chr7:149545200-149548800	Strong transcription	Fetal Brain Female	brain
41	chr7:149545200-149552000	Weak transcription	Osteobl	bone
42	chr7:149545400-149549600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:149545400-149549600	Weak transcription	Ovary	ovary
44	chr7:149545400-149549800	Weak transcription	Lung	lung
45	chr7:149545400-149551600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr7:149545400-149551800	Weak transcription	Spleen	Spleen
47	chr7:149545600-149551400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr7:149545600-149551600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:149545600-149551600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr7:149545600-149557400	Weak transcription	Placenta Amnion	Placenta Amnion

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