Variant report

Variant	rs6591196
Chromosome Location	chr11:65785562-65785563
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	chr11:65681469..65683579-chr11:65785097..65787781,2	MCF-7	breast:
2	chr11:65783111..65785953-chr11:65787556..65789065,2	K562	blood:

Variant related genes	Relation type
ENSG00000175294	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1143916	1.00[AMR][1000 genomes]
rs1144796	1.00[AMR][1000 genomes]
rs1151508	1.00[AMR][1000 genomes]
rs1151532	0.92[AFR][1000 genomes]
rs1190945	0.85[AFR][1000 genomes]
rs1191715	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1201503	1.00[AMR][1000 genomes]
rs1203551	0.85[AFR][1000 genomes]
rs1203552	0.85[AFR][1000 genomes]
rs1203749	0.92[AFR][1000 genomes]
rs1203750	0.92[AFR][1000 genomes]
rs1203799	1.00[AMR][1000 genomes]
rs1203801	0.92[AFR][1000 genomes]
rs1630638	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1783562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2430981	0.82[AFR][1000 genomes]
rs2452687	0.92[AFR][1000 genomes]
rs3017606	0.82[AFR][1000 genomes]
rs471709	0.89[AFR][1000 genomes]
rs472853	0.92[AFR][1000 genomes]
rs475817	0.92[AFR][1000 genomes]
rs477001	0.92[AFR][1000 genomes]
rs485547	0.86[AFR][1000 genomes]
rs4930332	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs502898	0.82[AFR][1000 genomes]
rs504456	0.92[AFR][1000 genomes]
rs505412	0.85[AFR][1000 genomes]
rs505642	0.92[AFR][1000 genomes]
rs512316	0.85[AFR][1000 genomes]
rs515778	0.85[AFR][1000 genomes]
rs519911	0.92[AFR][1000 genomes]
rs527279	0.92[AFR][1000 genomes]
rs547282	0.92[AFR][1000 genomes]
rs547892	0.92[AFR][1000 genomes]
rs549228	0.92[AFR][1000 genomes]
rs551652	0.92[AFR][1000 genomes]
rs560105	0.92[AFR][1000 genomes]
rs561199	0.92[AFR][1000 genomes]
rs561869	0.92[AFR][1000 genomes]
rs567414	0.92[AFR][1000 genomes]
rs568423	0.92[AFR][1000 genomes]
rs571368	0.85[AFR][1000 genomes]
rs572697	0.85[AFR][1000 genomes]
rs577301	0.92[AFR][1000 genomes]
rs581247	0.85[AFR][1000 genomes]
rs59973646	1.00[AMR][1000 genomes]
rs693382	0.92[AFR][1000 genomes]
rs73498471	1.00[AMR][1000 genomes]
rs7934588	0.89[AFR][1000 genomes]
rs7947668	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs948477	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
2	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
3	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv897768	chr11:65715210-65842064	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
5	nsv897769	chr11:65727799-65828625	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
6	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65780800-65788600	Weak transcription	NHEK	skin
2	chr11:65781200-65787600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr11:65781200-65788200	Weak transcription	Esophagus	oesophagus
4	chr11:65781400-65787200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr11:65782600-65789800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:65783000-65787600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr11:65783200-65787800	Weak transcription	NHLF	lung
8	chr11:65783200-65788000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr11:65783200-65788600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:65783400-65787400	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr11:65783400-65788200	Weak transcription	A549	lung
12	chr11:65783400-65788600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:65783400-65811200	Weak transcription	Aorta	Aorta
14	chr11:65783600-65786800	Enhancers	K562	blood
15	chr11:65783600-65788400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:65783600-65788600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:65783800-65787800	Weak transcription	Spleen	Spleen
18	chr11:65783800-65788200	Weak transcription	NH-A	brain
19	chr11:65783800-65790200	Weak transcription	Right Atrium	heart
20	chr11:65784000-65787800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:65784000-65788600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:65784000-65788600	Weak transcription	Placenta	Placenta
23	chr11:65784200-65787600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:65784200-65787600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:65784200-65787800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:65784200-65787800	Weak transcription	Adipose Nuclei	Adipose
27	chr11:65784200-65787800	Weak transcription	HUVEC	blood vessel
28	chr11:65784200-65788200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:65784200-65788200	Weak transcription	HMEC	breast
30	chr11:65784200-65788800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:65784200-65788800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr11:65784200-65789800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr11:65784200-65789800	Weak transcription	Right Ventricle	heart
34	chr11:65784400-65786000	Enhancers	Muscle Satellite Cultured Cells	--
35	chr11:65784400-65787400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:65784400-65787800	Weak transcription	Osteobl	bone
37	chr11:65784400-65788200	Weak transcription	NHDF-Ad	bronchial
38	chr11:65784400-65788800	Weak transcription	HSMMtube	muscle
39	chr11:65785000-65788000	Weak transcription	Hela-S3	cervix
40	chr11:65785200-65788800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr11:65785400-65785800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:65785400-65787800	Weak transcription	HSMM	muscle

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