Variant report

Variant	rs1004043
Chromosome Location	chr7:4087468-4087469
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 163 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:132)

rs_ID	r²[population]
rs10226642	0.85[CHB][hapmap];0.88[ASN][1000 genomes]
rs10228678	1.00[JPT][hapmap]
rs10229207	0.93[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10230707	0.81[YRI][hapmap]
rs10231929	0.86[CHD][hapmap]
rs10234405	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10235315	0.94[ASN][1000 genomes]
rs10236620	0.94[ASN][1000 genomes]
rs10237488	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10237838	0.93[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10237842	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10237956	0.94[ASN][1000 genomes]
rs10242122	0.83[ASW][hapmap];1.00[CHD][hapmap];0.81[YRI][hapmap]
rs10244597	0.93[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10251829	0.82[ASN][1000 genomes]
rs10253393	0.93[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10255116	0.94[ASN][1000 genomes]
rs10259751	0.93[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10259896	0.93[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10262417	0.86[CHB][hapmap];0.88[ASN][1000 genomes]
rs10263906	0.85[ASN][1000 genomes]
rs10265219	0.94[ASN][1000 genomes]
rs10265937	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10266101	0.86[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10270404	0.85[CHB][hapmap];0.91[YRI][hapmap];0.88[ASN][1000 genomes]
rs10278187	0.86[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11975100	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11975109	0.94[ASN][1000 genomes]
rs11976085	0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs11976431	0.83[ASW][hapmap];1.00[CHD][hapmap]
rs11978101	0.88[CHB][hapmap];1.00[CHD][hapmap];0.88[ASN][1000 genomes]
rs11979803	0.86[CHD][hapmap]
rs12155028	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12155317	0.94[ASN][1000 genomes]
rs12386617	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12701396	0.86[CHB][hapmap]
rs12701401	0.86[CHD][hapmap]
rs13223359	0.88[CHB][hapmap];1.00[CHD][hapmap];0.88[ASN][1000 genomes]
rs13226987	0.86[CHD][hapmap]
rs13229520	0.82[ASN][1000 genomes]
rs13233532	0.86[CHD][hapmap]
rs13241881	0.88[ASN][1000 genomes]
rs1443647	0.93[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1562005	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17134196	0.93[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17134197	0.91[ASN][1000 genomes]
rs17134314	0.86[CHB][hapmap];0.88[ASN][1000 genomes]
rs1807027	0.83[ASN][1000 genomes]
rs2342489	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2342490	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2342491	0.93[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2342492	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2342493	0.94[ASN][1000 genomes]
rs2342496	0.91[ASN][1000 genomes]
rs2342497	0.86[CHD][hapmap]
rs2342498	0.86[CHD][hapmap]
rs28634483	0.94[ASN][1000 genomes]
rs2880371	0.93[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs28828193	0.94[ASN][1000 genomes]
rs34176245	0.85[ASN][1000 genomes]
rs34241728	0.94[ASN][1000 genomes]
rs34656116	0.88[ASN][1000 genomes]
rs34786362	0.94[ASN][1000 genomes]
rs4295561	0.92[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4391327	0.88[ASN][1000 genomes]
rs4442012	0.86[CHD][hapmap]
rs4526263	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs55808604	0.88[ASN][1000 genomes]
rs55961125	0.88[ASN][1000 genomes]
rs56294271	0.88[ASN][1000 genomes]
rs57367972	0.91[ASN][1000 genomes]
rs58608919	0.88[ASN][1000 genomes]
rs58704629	0.88[ASN][1000 genomes]
rs60977750	0.88[ASN][1000 genomes]
rs6462541	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6462542	0.94[ASN][1000 genomes]
rs6462543	0.94[ASN][1000 genomes]
rs6462545	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6462546	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6462548	0.94[ASN][1000 genomes]
rs6462549	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6462550	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6462558	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6462562	0.86[CHD][hapmap]
rs6462564	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6462570	0.86[CHD][hapmap]
rs6462575	0.88[ASN][1000 genomes]
rs6462576	0.88[ASN][1000 genomes]
rs6462577	0.88[CHB][hapmap];1.00[CHD][hapmap];0.85[ASN][1000 genomes]
rs66731402	0.94[ASN][1000 genomes]
rs67819387	0.94[ASN][1000 genomes]
rs67820803	0.94[ASN][1000 genomes]
rs68189920	0.94[ASN][1000 genomes]
rs6946871	0.93[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6950754	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6953284	0.94[ASN][1000 genomes]
rs6953630	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6954175	0.94[ASN][1000 genomes]
rs6958964	0.94[ASN][1000 genomes]
rs6971090	0.88[CHB][hapmap];1.00[CHD][hapmap];0.88[ASN][1000 genomes]
rs6977489	0.94[ASN][1000 genomes]
rs71527466	0.91[ASN][1000 genomes]
rs7783519	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7784928	0.88[CHB][hapmap];0.81[ASN][1000 genomes]
rs7789457	0.88[ASN][1000 genomes]
rs7789676	0.85[CHB][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7790866	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7790901	0.86[CHD][hapmap]
rs7790918	0.86[CHD][hapmap]
rs7791013	0.94[ASN][1000 genomes]
rs7791029	0.94[ASN][1000 genomes]
rs7791174	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7791801	0.94[ASN][1000 genomes]
rs7794939	0.86[CHD][hapmap]
rs7797081	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7797437	0.88[CHB][hapmap];0.88[ASN][1000 genomes]
rs7801112	0.97[ASN][1000 genomes]
rs7801816	0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs7801843	0.86[CHD][hapmap]
rs7801852	0.86[CHB][hapmap];0.88[ASN][1000 genomes]
rs7801978	0.88[ASN][1000 genomes]
rs7802118	0.86[CHD][hapmap]
rs7802663	0.88[CHB][hapmap];0.88[ASN][1000 genomes]
rs7803030	0.93[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7803897	0.94[ASN][1000 genomes]
rs7805933	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7806125	0.88[ASN][1000 genomes]
rs7807206	0.88[ASN][1000 genomes]
rs7807325	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs7807506	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7809492	0.88[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];0.88[ASN][1000 genomes]
rs7810949	1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021650	chr7:3665232-4577439	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1029406	chr7:3860894-4477095	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv538685	chr7:3860894-4477095	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1026410	chr7:3869104-4383606	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1025497	chr7:3905444-4176032	Enhancers Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv538686	chr7:3905444-4176032	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv464274	chr7:3955516-4613607	Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv464275	chr7:3955516-4613607	Enhancers Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv464276	chr7:3955516-4613607	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv464277	chr7:3955516-4613607	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv464278	chr7:3955516-4613607	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv605939	chr7:3955516-4613607	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv1019305	chr7:3991646-4276004	Enhancers Weak transcription Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv1033687	chr7:4006020-4267871	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv538688	chr7:4006020-4267871	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv917252	chr7:4017819-4374090	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv527624	chr7:4027536-4424054	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	nsv523815	chr7:4054773-4088876	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv887338	chr7:4054773-4105705	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv1022794	chr7:4063874-4137968	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv538689	chr7:4063874-4137968	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
22	nsv869540	chr7:4063875-4302040	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	esv1807485	chr7:4073998-4088555	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
24	nsv1028689	chr7:4078345-4166552	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	nsv538690	chr7:4078345-4166552	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
26	esv1807382	chr7:4081250-4105936	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
27	esv1796639	chr7:4081790-4088555	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
28	esv1800598	chr7:4081790-4088555	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
29	esv1798650	chr7:4081790-4105705	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
30	esv1800062	chr7:4081790-4105705	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
31	esv1807573	chr7:4084716-4111112	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4059000-4091200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:4066800-4091200	Weak transcription	Pancreas	Pancrea
3	chr7:4077800-4087800	Weak transcription	Spleen	Spleen
4	chr7:4078000-4091200	Weak transcription	Aorta	Aorta
5	chr7:4082400-4089800	Weak transcription	Fetal Stomach	stomach
6	chr7:4082400-4091200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr7:4082800-4097000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:4084000-4087800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:4084000-4092800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:4087200-4089400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:4087400-4087600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:4087400-4096600	Weak transcription	Gastric	stomach

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