Variant report

Variant	rs2060421
Chromosome Location	chr7:63563776-63563777
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 152 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs10085578	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10085611	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10233026	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs10238902	0.91[EUR][1000 genomes]
rs10252057	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10255053	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10257310	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10260135	0.86[ASN][1000 genomes]
rs10273473	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs10479701	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10949869	0.88[EUR][1000 genomes]
rs10949870	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10949871	0.91[EUR][1000 genomes]
rs10949875	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11760666	0.92[ASN][1000 genomes]
rs11760975	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11769287	0.84[CEU][hapmap]
rs11770537	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11770663	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11772251	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11773874	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12530603	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12531199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535845	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12667817	0.98[ASN][1000 genomes]
rs13221374	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13222343	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13224398	0.92[EUR][1000 genomes]
rs13228944	0.97[ASN][1000 genomes]
rs13228946	0.94[ASN][1000 genomes]
rs13230517	0.90[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13233437	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13240248	0.91[CEU][hapmap];0.92[EUR][1000 genomes]
rs1369096	0.88[ASN][1000 genomes]
rs1560910	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs1595621	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17137127	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17139468	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1816700	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs1821456	0.88[ASN][1000 genomes]
rs1821457	0.88[ASN][1000 genomes]
rs1836270	0.84[ASN][1000 genomes]
rs1836271	0.83[ASN][1000 genomes]
rs1836272	0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs1837336	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1837337	0.91[EUR][1000 genomes]
rs1837338	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs1837339	0.91[EUR][1000 genomes]
rs1946853	0.82[CEU][hapmap]
rs1972856	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1972857	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1982117	0.90[ASN][1000 genomes]
rs2008969	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2014900	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2060420	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2083286	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2118859	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2164108	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2164111	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2861506	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2861507	0.84[EUR][1000 genomes]
rs2861509	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2861510	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2861511	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34705196	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4301347	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4349869	0.91[EUR][1000 genomes]
rs4570020	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4717167	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4717168	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4717170	0.83[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4717171	0.92[EUR][1000 genomes]
rs4717175	0.86[ASN][1000 genomes]
rs4717969	0.84[CEU][hapmap]
rs4717978	0.87[CEU][hapmap];0.92[EUR][1000 genomes]
rs4717979	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4717980	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4717981	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4717982	0.92[EUR][1000 genomes]
rs4717986	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5005469	0.85[EUR][1000 genomes]
rs6460115	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6460116	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6460119	0.88[ASN][1000 genomes]
rs6460124	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs6943091	0.88[ASN][1000 genomes]
rs6945642	0.88[ASN][1000 genomes]
rs6948848	0.85[EUR][1000 genomes]
rs6949540	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6950116	0.98[ASN][1000 genomes]
rs6952312	0.90[ASN][1000 genomes]
rs6953268	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6958588	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs6962663	0.90[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6972979	0.86[ASN][1000 genomes]
rs6973547	0.84[CEU][hapmap]
rs6974169	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6975336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6975985	0.82[CEU][hapmap]
rs6976585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6979641	0.92[EUR][1000 genomes]
rs7777802	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs7778613	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7778793	0.91[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7785462	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7785895	0.86[ASN][1000 genomes]
rs7787614	0.92[EUR][1000 genomes]
rs7791554	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7797492	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7797531	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7797838	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7798133	0.86[ASN][1000 genomes]
rs7800439	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7800540	0.91[EUR][1000 genomes]
rs7800675	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7804572	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7807146	0.92[EUR][1000 genomes]
rs7808723	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs893623	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9647796	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9647797	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9654757	0.84[ASN][1000 genomes]
rs978662	0.96[CEU][hapmap];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888255	chr7:63175168-63990100	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv534361	chr7:63328472-63955286	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	nsv888259	chr7:63363001-64009193	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
4	esv3365963	chr7:63367092-63587809	Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	esv3496812	chr7:63367459-63649196	Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	esv3496813	chr7:63367459-63649196	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	esv3336155	chr7:63368772-63650552	Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	nsv464514	chr7:63383123-63847894	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
9	nsv607304	chr7:63383123-63847894	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
10	nsv888260	chr7:63389550-63565953	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv1016151	chr7:63420068-63704289	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
12	nsv1019447	chr7:63420068-63766444	Active TSS ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
13	nsv1016466	chr7:63438466-63969492	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
14	nsv888263	chr7:63464342-63565953	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	esv3378509	chr7:63482728-63739475	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
16	nsv607305	chr7:63502629-63783386	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
17	nsv1019217	chr7:63520745-63802106	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
18	nsv607306	chr7:63525863-63761081	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
19	nsv888264	chr7:63526245-63791269	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
20	nsv981494	chr7:63526308-63584018	ZNF genes & repeats Weak transcription Active TSS Strong transcription	TF binding region CpG island lncRNA	12 gene(s)	inside rSNPs	diseases
21	nsv948798	chr7:63533811-63751201	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
22	nsv1016645	chr7:63533811-63784883	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
23	nsv1019909	chr7:63533811-63791269	Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
24	nsv1027639	chr7:63536201-63791269	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
25	nsv607307	chr7:63537173-63783386	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
26	nsv1015752	chr7:63550476-63766444	Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
27	nsv538890	chr7:63550476-63766444	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
28	nsv888265	chr7:63557196-63679362	ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
29	nsv981655	chr7:63562969-63564526	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:63559800-63563800	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr7:63561000-63564200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:63562200-63564200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

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