Variant report

Variant	rs11575321
Chromosome Location	chr7:50605107-50605108
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50601758..50604303-chr7:50604942..50607334,2	K562	blood:

Extended variants
information (count: 118 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs10268819	1.00[JPT][hapmap]
rs1037350	0.87[ASN][1000 genomes]
rs10499691	0.87[ASN][1000 genomes]
rs10499696	1.00[JPT][hapmap]
rs1107742	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1107743	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11575282	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11575286	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11575298	1.00[JPT][hapmap]
rs11575313	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575332	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs11575338	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575339	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs11575342	1.00[JPT][hapmap]
rs11575349	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575368	0.81[AFR][1000 genomes]
rs11575374	0.81[AFR][1000 genomes]
rs11575378	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs11575404	1.00[JPT][hapmap]
rs11575410	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11575437	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs11575442	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11575515	0.82[YRI][hapmap]
rs11575521	0.93[ASN][1000 genomes]
rs11575548	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11575553	0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11575562	0.87[ASN][1000 genomes]
rs11771818	1.00[JPT][hapmap]
rs11976368	0.87[ASN][1000 genomes]
rs11978591	0.87[ASN][1000 genomes]
rs1349491	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1466163	1.00[JPT][hapmap]
rs1470748	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17133817	0.87[ASN][1000 genomes]
rs17133826	0.87[ASN][1000 genomes]
rs17553036	0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17553791	1.00[JPT][hapmap]
rs17634476	0.87[ASN][1000 genomes]
rs17634717	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17634771	1.00[JPT][hapmap]
rs17634958	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17635123	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2100279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2122817	1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2242041	0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2329367	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2329369	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2715126	1.00[JPT][hapmap]
rs2876826	0.87[ASN][1000 genomes]
rs2876830	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3177656	1.00[JPT][hapmap]
rs3735271	0.82[EUR][1000 genomes]
rs3779081	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3779084	0.82[CHB][hapmap]
rs3807550	0.80[CHB][hapmap];0.82[EUR][1000 genomes]
rs3807551	0.80[CHB][hapmap];0.82[EUR][1000 genomes]
rs3807553	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4469405	0.82[EUR][1000 genomes]
rs4585697	0.87[CEU][hapmap];0.85[EUR][1000 genomes]
rs4602840	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4947710	0.82[EUR][1000 genomes]
rs55834323	0.82[EUR][1000 genomes]
rs56056130	0.87[ASN][1000 genomes]
rs56670620	0.85[EUR][1000 genomes]
rs58129743	0.85[EUR][1000 genomes]
rs6262	0.85[YRI][hapmap];0.81[AFR][1000 genomes]
rs67275148	0.85[EUR][1000 genomes]
rs6944090	0.90[CHB][hapmap]
rs6959427	0.82[ASN][1000 genomes]
rs71018475	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73117270	0.93[ASN][1000 genomes]
rs73119230	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73119239	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73119245	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73119251	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73121271	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73121282	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73121285	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73121287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73121290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73121292	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73123220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73123247	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73123249	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73123251	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73123254	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73123257	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73123261	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73123264	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73123266	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73123283	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73123285	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73123291	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73125208	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73125215	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73125225	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73129082	0.82[EUR][1000 genomes]
rs73129084	0.82[EUR][1000 genomes]
rs73129088	0.82[EUR][1000 genomes]
rs73129091	0.82[EUR][1000 genomes]
rs73129096	0.82[EUR][1000 genomes]
rs73131006	0.82[EUR][1000 genomes]
rs73131008	0.82[EUR][1000 genomes]
rs73131013	0.82[EUR][1000 genomes]
rs73131078	0.82[EUR][1000 genomes]
rs73695642	0.87[ASN][1000 genomes]
rs73695660	0.87[ASN][1000 genomes]
rs73695663	0.87[ASN][1000 genomes]
rs7777600	0.90[CHB][hapmap];0.91[ASN][1000 genomes]
rs880028	0.82[CHB][hapmap]
rs896308	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9656664	0.80[CHB][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv888021	chr7:50538589-50610071	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv429750	chr7:50603534-50622712	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50565200-50609000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr7:50600200-50612600	Weak transcription	Small Intestine	intestine
3	chr7:50600600-50619400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:50601600-50631400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr7:50602600-50618200	Weak transcription	Pancreas	Pancrea
6	chr7:50602800-50606400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:50602800-50609600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:50602800-50610200	Weak transcription	Colonic Mucosa	Colon
9	chr7:50602800-50613800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr7:50603200-50606000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:50603600-50613000	Strong transcription	Duodenum Mucosa	Duodenum
12	chr7:50603800-50606200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:50603800-50606200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:50604000-50612000	Strong transcription	Fetal Intestine Large	intestine
15	chr7:50604400-50612000	Strong transcription	HepG2	liver
16	chr7:50604600-50609600	Weak transcription	Liver	Liver
17	chr7:50604600-50612400	Strong transcription	Fetal Intestine Small	intestine

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