Variant report

Variant	rs2709187
Chromosome Location	chr11:4576395-4576396
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:4575133..4577035-chr11:4578318..4580954,2	K562	blood:

Extended variants
information (count: 102 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10836172	0.83[JPT][hapmap]
rs10836177	0.85[JPT][hapmap]
rs10836245	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs10836246	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs10836247	0.82[ASN][1000 genomes]
rs10836248	0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs10836254	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11032710	0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs11032757	0.83[ASN][1000 genomes]
rs12279728	0.85[JPT][hapmap]
rs1281056	0.85[JPT][hapmap];0.80[MEX][hapmap]
rs1394718	0.97[ASN][1000 genomes]
rs1394719	0.84[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1394720	0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1430397	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1505216	0.82[ASN][1000 genomes]
rs16911356	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1827718	0.83[ASN][1000 genomes]
rs2115932	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2163286	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2435542	0.85[JPT][hapmap]
rs2566202	0.82[JPT][hapmap]
rs2566203	0.85[JPT][hapmap]
rs2566205	0.90[JPT][hapmap]
rs2566208	0.87[JPT][hapmap]
rs2566210	0.81[ASN][1000 genomes]
rs2566213	0.84[JPT][hapmap]
rs2566215	0.84[JPT][hapmap]
rs2566217	0.84[JPT][hapmap]
rs2566218	0.84[JPT][hapmap]
rs2566219	0.84[JPT][hapmap]
rs2566266	0.96[ASN][1000 genomes]
rs2566269	0.83[ASN][1000 genomes]
rs2566271	0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs2566272	0.95[JPT][hapmap]
rs2566273	0.90[JPT][hapmap]
rs2641404	0.96[ASN][1000 genomes]
rs2641407	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2641409	0.83[ASN][1000 genomes]
rs2641412	0.95[JPT][hapmap]
rs2641413	0.84[CHD][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs2641414	0.84[CHD][hapmap];0.90[JPT][hapmap]
rs2657147	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2657167	0.96[CEU][hapmap];0.80[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2657168	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.90[TSI][hapmap]
rs2657169	0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs2657170	0.83[ASN][1000 genomes]
rs2657173	0.84[CHD][hapmap];0.90[JPT][hapmap]
rs2657174	0.84[CHD][hapmap];0.90[JPT][hapmap]
rs2657175	0.95[JPT][hapmap]
rs2657176	0.82[ASN][1000 genomes]
rs2657177	0.82[ASN][1000 genomes]
rs2657178	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs2657179	0.82[ASN][1000 genomes]
rs2657180	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs2657184	0.96[ASN][1000 genomes]
rs2657185	0.96[ASN][1000 genomes]
rs2657186	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2657187	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2709127	0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs2709128	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2709129	0.84[JPT][hapmap]
rs2709159	0.84[JPT][hapmap]
rs2709164	0.85[JPT][hapmap]
rs2709170	0.81[ASN][1000 genomes]
rs2709173	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs2709174	0.82[ASN][1000 genomes]
rs2709175	0.96[ASN][1000 genomes]
rs2709176	0.96[ASN][1000 genomes]
rs2709182	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs2709185	0.95[JPT][hapmap]
rs2938834	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs331507	0.83[JPT][hapmap]
rs331508	0.85[JPT][hapmap];0.80[MEX][hapmap]
rs331509	0.84[JPT][hapmap]
rs4343016	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4910628	0.97[ASN][1000 genomes]
rs7101688	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7113602	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs96489	0.85[JPT][hapmap];0.80[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043803	chr11:4388448-4837042	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats 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	46 gene(s)	inside rSNPs	diseases
2	nsv540916	chr11:4388448-4837042	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv553159	chr11:4389110-4599221	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1048224	chr11:4390227-4920324	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
5	nsv540917	chr11:4390227-4920324	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
6	nsv896911	chr11:4400801-4806872	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv553160	chr11:4404192-4589567	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv553161	chr11:4404192-4589780	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv896912	chr11:4516365-4578530	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv896913	chr11:4516365-4589780	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv1052736	chr11:4519302-4635855	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
12	nsv540921	chr11:4519302-4635855	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
13	nsv1039206	chr11:4524438-4582150	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	nsv1047344	chr11:4524493-4630740	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
15	esv2753185	chr11:4526374-4576395	Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	esv2751024	chr11:4535321-4578714	Enhancers ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
17	esv2762892	chr11:4541825-4619236	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
18	nsv1044093	chr11:4544058-4588414	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	nsv832055	chr11:4550894-4736340	Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
20	nsv1047280	chr11:4559233-4585036	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
21	nsv1039186	chr11:4563343-4598185	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	nsv870335	chr11:4568743-4654458	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2709187	CD81	cis	cerebellum	SCAN
rs2709187	MUC5B	cis	parietal	SCAN
rs2709187	RHOG	cis	parietal	SCAN
rs2709187	CHRNA10	cis	cerebellum	SCAN
rs2709187	OR52K2	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4568600-4580600	Weak transcription	Gastric	stomach

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