Variant report

Variant	rs2791119
Chromosome Location	chr6:106654094-106654095
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	chr6:106650293..106651927-chr6:106653289..106654803,2	K562	blood:
2	chr6:106648013..106651927-chr6:106651930..106654879,4	K562	blood:

Variant related genes	Relation type
ENSG00000057663	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12110796	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12664702	0.93[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2299861	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs478310	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs501804	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs511472	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs520296	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs538557	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57050291	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59800435	0.83[EUR][1000 genomes]
rs600076	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs605457	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs627484	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs632686	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs656994	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs672070	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs676090	0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs676640	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs710088	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs710089	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs710090	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs710091	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9372119	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9373838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9373840	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9386521	0.81[ASN][1000 genomes]
rs9398076	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9398077	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932155	chr6:106281728-107030467	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1025900	chr6:106529777-106898421	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1018270	chr6:106531658-106908606	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv538399	chr6:106531658-106908606	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1035110	chr6:106557281-106802212	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv538400	chr6:106557281-106802212	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv1022855	chr6:106570926-106802072	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv538401	chr6:106570926-106802072	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv1019265	chr6:106587627-106727591	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv538402	chr6:106587627-106727591	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv532047	chr6:106591482-107143252	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
12	nsv1025963	chr6:106593639-106848778	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
13	nsv1020047	chr6:106597828-106912047	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
14	nsv970664	chr6:106635267-106887670	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106612400-106662000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:106616400-106654200	Weak transcription	Aorta	Aorta
3	chr6:106626800-106674800	Weak transcription	K562	blood
4	chr6:106628000-106659200	Weak transcription	HepG2	liver
5	chr6:106628400-106675200	Weak transcription	Stomach Mucosa	stomach
6	chr6:106628800-106671200	Weak transcription	Fetal Intestine Small	intestine
7	chr6:106630000-106654600	Weak transcription	Hela-S3	cervix
8	chr6:106630600-106654200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:106632000-106664600	Weak transcription	Psoas Muscle	Psoas
10	chr6:106632200-106659400	Weak transcription	Right Ventricle	heart
11	chr6:106633400-106662000	Weak transcription	Fetal Lung	lung
12	chr6:106634400-106654800	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr6:106634400-106657000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr6:106636800-106656800	Weak transcription	Brain Hippocampus Middle	brain
15	chr6:106643400-106654600	Weak transcription	Thymus	Thymus
16	chr6:106643600-106659600	Weak transcription	Fetal Kidney	kidney
17	chr6:106643800-106658800	Weak transcription	HSMMtube	muscle
18	chr6:106644000-106661000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:106644600-106663000	Weak transcription	Left Ventricle	heart
20	chr6:106645800-106695400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr6:106646000-106659200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr6:106647400-106659600	Weak transcription	Pancreas	Pancrea
23	chr6:106647400-106695200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr6:106648200-106657800	Weak transcription	Primary B cells from peripheral blood	blood
25	chr6:106648600-106663000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:106648800-106656800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:106648800-106661800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr6:106649000-106663000	Weak transcription	NHDF-Ad	bronchial
29	chr6:106649000-106663200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:106649200-106654600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr6:106649200-106654800	Weak transcription	Ovary	ovary
32	chr6:106649200-106695200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:106649200-106695400	Weak transcription	HMEC	breast
34	chr6:106649400-106656800	Weak transcription	Primary B cells from cord blood	blood
35	chr6:106649400-106657200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr6:106649400-106664200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr6:106649400-106682400	Weak transcription	Primary T cells from cord blood	blood
38	chr6:106649600-106663000	Weak transcription	NH-A	brain
39	chr6:106649600-106683000	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr6:106650000-106654600	Weak transcription	Liver	Liver
41	chr6:106650000-106656200	Weak transcription	HSMM	muscle
42	chr6:106650000-106657200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr6:106650000-106660200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr6:106650000-106661400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr6:106650000-106663800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:106650000-106674200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr6:106650000-106674600	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr6:106650000-106695200	Weak transcription	NHEK	skin
49	chr6:106650400-106660600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr6:106650400-106674800	Weak transcription	Monocytes-CD14+_RO01746	blood

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