Variant report

Variant	rs2177497
Chromosome Location	chr7:119388462-119388463
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:119383218..119386091-chr7:119386979..119388711,2	K562	blood:

Extended variants
information (count: 233 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:213)

rs_ID	r²[population]
rs10081200	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10233221	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10236586	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10239992	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10245797	0.92[ASN][1000 genomes]
rs10251920	0.88[ASN][1000 genomes]
rs10258725	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10266505	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10267600	0.88[ASN][1000 genomes]
rs10273802	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10274141	0.92[ASN][1000 genomes]
rs10279052	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10279203	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10500075	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10500077	1.00[ASN][1000 genomes]
rs1073047	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1099820	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1099821	0.92[EUR][1000 genomes]
rs11487119	0.92[ASN][1000 genomes]
rs11761345	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11763158	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11764046	1.00[ASN][1000 genomes]
rs11764108	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11764197	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11766052	1.00[ASN][1000 genomes]
rs11767175	1.00[ASN][1000 genomes]
rs11767335	1.00[ASN][1000 genomes]
rs11770085	0.88[ASN][1000 genomes]
rs11770087	1.00[ASN][1000 genomes]
rs11770943	1.00[ASN][1000 genomes]
rs11771353	1.00[ASN][1000 genomes]
rs11771830	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11772195	1.00[ASN][1000 genomes]
rs11973192	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11978043	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12536246	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12537312	0.88[ASN][1000 genomes]
rs12540739	0.88[ASN][1000 genomes]
rs12671360	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12706258	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12706259	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12706263	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12706264	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12706265	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13239182	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1357670	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1357672	1.00[ASN][1000 genomes]
rs1357674	0.96[ASN][1000 genomes]
rs1404078	1.00[ASN][1000 genomes]
rs1404080	0.96[ASN][1000 genomes]
rs1404083	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.96[TSI][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1524197	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1524199	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1524203	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1524205	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1581504	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1589754	1.00[ASN][1000 genomes]
rs1608585	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17142284	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17142302	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17142311	1.00[ASN][1000 genomes]
rs17142315	0.96[ASN][1000 genomes]
rs17142320	0.96[ASN][1000 genomes]
rs17142326	0.96[ASN][1000 genomes]
rs17142336	1.00[ASN][1000 genomes]
rs17278994	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17279126	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17279575	1.00[ASN][1000 genomes]
rs17279645	1.00[ASN][1000 genomes]
rs17280552	1.00[ASN][1000 genomes]
rs17280657	1.00[ASN][1000 genomes]
rs17345578	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17345704	1.00[ASN][1000 genomes]
rs17518341	1.00[ASN][1000 genomes]
rs17518502	1.00[ASN][1000 genomes]
rs1810339	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1851806	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1916859	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1916861	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1949781	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2049377	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2049381	1.00[ASN][1000 genomes]
rs2108143	1.00[ASN][1000 genomes]
rs2140569	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2402490	1.00[ASN][1000 genomes]
rs2402491	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28465102	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28843793	0.88[ASN][1000 genomes]
rs28893249	0.88[ASN][1000 genomes]
rs34352135	1.00[ASN][1000 genomes]
rs34943632	1.00[ASN][1000 genomes]
rs36054882	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3857835	1.00[ASN][1000 genomes]
rs4236612	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4268068	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4338036	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4342531	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4398835	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4486113	0.88[ASN][1000 genomes]
rs4644180	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4727897	0.92[ASN][1000 genomes]
rs4727901	0.92[ASN][1000 genomes]
rs4727903	1.00[ASN][1000 genomes]
rs4727904	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4730924	0.88[ASN][1000 genomes]
rs4730929	0.88[ASN][1000 genomes]
rs4730930	0.92[ASN][1000 genomes]
rs4730933	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4730935	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4730936	1.00[ASN][1000 genomes]
rs4730939	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4730940	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4730941	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4730945	1.00[ASN][1000 genomes]
rs55897535	1.00[ASN][1000 genomes]
rs56750874	0.96[ASN][1000 genomes]
rs57408882	0.83[ASN][1000 genomes]
rs57472313	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57622763	1.00[ASN][1000 genomes]
rs57899966	1.00[ASN][1000 genomes]
rs57959404	1.00[ASN][1000 genomes]
rs58141692	0.92[ASN][1000 genomes]
rs58374970	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59561401	1.00[ASN][1000 genomes]
rs59615990	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60150709	1.00[ASN][1000 genomes]
rs60741204	1.00[ASN][1000 genomes]
rs60866751	0.96[ASN][1000 genomes]
rs61121232	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62477384	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6466707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6466708	0.92[ASN][1000 genomes]
rs6466713	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6466714	1.00[ASN][1000 genomes]
rs6466717	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6943195	0.85[ASN][1000 genomes]
rs6944331	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6946759	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6947105	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6947172	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6948585	1.00[ASN][1000 genomes]
rs6949406	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6950247	1.00[ASN][1000 genomes]
rs6951577	0.92[ASN][1000 genomes]
rs6955609	0.88[ASN][1000 genomes]
rs6957872	1.00[ASN][1000 genomes]
rs6958096	0.88[ASN][1000 genomes]
rs6961307	1.00[ASN][1000 genomes]
rs6962153	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6962613	1.00[ASN][1000 genomes]
rs6962888	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6967604	1.00[ASN][1000 genomes]
rs6971229	1.00[ASN][1000 genomes]
rs6972621	1.00[ASN][1000 genomes]
rs6973035	1.00[ASN][1000 genomes]
rs6977777	0.92[ASN][1000 genomes]
rs6978098	0.96[ASN][1000 genomes]
rs73483305	0.88[ASN][1000 genomes]
rs73485255	0.96[ASN][1000 genomes]
rs73487162	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73487163	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73487176	0.96[ASN][1000 genomes]
rs73720503	0.92[ASN][1000 genomes]
rs73722420	0.92[ASN][1000 genomes]
rs73722422	0.92[ASN][1000 genomes]
rs73722423	0.92[ASN][1000 genomes]
rs73723012	1.00[ASN][1000 genomes]
rs73723013	1.00[ASN][1000 genomes]
rs7777009	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7778068	0.88[ASN][1000 genomes]
rs7779499	1.00[ASN][1000 genomes]
rs7779886	1.00[ASN][1000 genomes]
rs7780266	1.00[ASN][1000 genomes]
rs7782632	0.92[ASN][1000 genomes]
rs7784543	1.00[ASN][1000 genomes]
rs7784594	1.00[ASN][1000 genomes]
rs7789561	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7791292	1.00[ASN][1000 genomes]
rs7793062	1.00[ASN][1000 genomes]
rs7796017	0.92[ASN][1000 genomes]
rs7797244	1.00[ASN][1000 genomes]
rs7798013	1.00[CEU][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7799128	0.92[ASN][1000 genomes]
rs7799153	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7799166	0.92[ASN][1000 genomes]
rs7803264	0.92[ASN][1000 genomes]
rs7804447	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7806056	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7808597	1.00[ASN][1000 genomes]
rs7808954	1.00[ASN][1000 genomes]
rs7810563	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7810698	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7811166	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7811885	1.00[ASN][1000 genomes]
rs846420	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs846421	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs846424	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs846428	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs846431	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs846437	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs846438	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs846439	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs846441	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs846444	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs846445	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs846448	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs940412	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs961361	1.00[ASN][1000 genomes]
rs9640790	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9640791	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9692075	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9801364	1.00[ASN][1000 genomes]
rs9801367	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949327	chr7:119179990-119402882	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv889114	chr7:119206096-119440159	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv889115	chr7:119270386-119577292	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1029023	chr7:119292763-119606632	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1023813	chr7:119292763-119606803	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv524225	chr7:119293417-119606632	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1029841	chr7:119299627-119606632	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1024175	chr7:119299627-119606803	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1018500	chr7:119310497-119532489	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1028812	chr7:119310497-119604904	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv539097	chr7:119310497-119604904	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv1033418	chr7:119324894-119600025	Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv539098	chr7:119324894-119600025	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv1021911	chr7:119346017-119389972	Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv1019030	chr7:119346017-119393756	Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	esv2761359	chr7:119346029-119389984	Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv5926	chr7:119350040-119389641	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	nsv608322	chr7:119363703-119467040	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv608323	chr7:119363703-119469204	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv1024697	chr7:119377777-119426170	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:119364800-119416000	Weak transcription	K562	blood
2	chr7:119388000-119388600	Enhancers	Fetal Brain Female	brain
3	chr7:119388000-119389200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr7:119388200-119390200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr7:119388400-119388800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr7:119388400-119388800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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