Variant report

Variant	rs9385056
Chromosome Location	chr6:119065365-119065366
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:119060047..119062597-chr6:119065156..119068895,3	K562	blood:
2	chr6:118970885..118973094-chr6:119064943..119066835,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111860	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12197292	0.81[ASN][1000 genomes]
rs12202235	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12207709	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1688610	0.85[CEU][hapmap]
rs1688617	0.90[ASN][1000 genomes]
rs17080557	0.92[ASN][1000 genomes]
rs17080570	0.86[YRI][hapmap]
rs1977803	0.89[ASN][1000 genomes]
rs2145568	1.00[JPT][hapmap]
rs284921	1.00[JPT][hapmap]
rs65685	1.00[JPT][hapmap]
rs6932749	0.90[ASN][1000 genomes]
rs706972	1.00[JPT][hapmap]
rs7746114	1.00[JPT][hapmap]
rs7766260	1.00[JPT][hapmap]
rs794602	1.00[JPT][hapmap]
rs794609	1.00[JPT][hapmap]
rs794610	1.00[JPT][hapmap]
rs794613	1.00[JPT][hapmap]
rs794615	1.00[JPT][hapmap]
rs9374745	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9374750	1.00[JPT][hapmap]
rs9374758	1.00[JPT][hapmap]
rs9401082	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[MEX][hapmap]
rs9401084	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9401108	1.00[JPT][hapmap]
rs9489514	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020463	chr6:118593028-119146363	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats 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	10 gene(s)	inside rSNPs	diseases
2	nsv1025403	chr6:118635123-119122551	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1027444	chr6:118687556-119121660	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv538428	chr6:118687556-119121660	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv949321	chr6:118692304-119137658	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv604556	chr6:118722589-119065365	Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv948980	chr6:118772508-119137658	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv604559	chr6:118786486-119113317	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv1020405	chr6:118786586-119241006	ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv830788	chr6:119014021-119143652	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1023826	chr6:119026481-119221408	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv464030	chr6:119043898-119080379	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv470855	chr6:119043898-119080379	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv604560	chr6:119043898-119080379	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv886568	chr6:119044453-119132164	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv886569	chr6:119055873-119132164	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	esv3388519	chr6:119063709-119065607	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119056600-119067400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr6:119056600-119069000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr6:119056800-119065400	Weak transcription	Fetal Thymus	thymus
4	chr6:119056800-119069800	Weak transcription	Pancreas	Pancrea
5	chr6:119058200-119068800	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr6:119060200-119067400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr6:119060200-119069800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:119060600-119065600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr6:119061400-119069200	Weak transcription	Brain Substantia Nigra	brain
10	chr6:119061800-119067000	Weak transcription	Dnd41	blood
11	chr6:119062000-119065400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:119062000-119066000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr6:119062000-119066200	Weak transcription	K562	blood
14	chr6:119062000-119066200	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr6:119062000-119067400	Weak transcription	Fetal Brain Male	brain
16	chr6:119062000-119070200	Weak transcription	Fetal Brain Female	brain
17	chr6:119062200-119067000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:119062400-119066200	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr6:119062400-119066400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:119064000-119066400	Weak transcription	GM12878-XiMat	blood
21	chr6:119064000-119068400	Enhancers	Fetal Muscle Leg	muscle
22	chr6:119064200-119066000	Enhancers	Ovary	ovary
23	chr6:119064600-119066400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:119064600-119068200	Enhancers	HSMM	muscle
25	chr6:119064800-119065800	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr6:119064800-119065800	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr6:119064800-119066000	Enhancers	HSMMtube	muscle
28	chr6:119064800-119066200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr6:119064800-119066400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:119064800-119066400	Enhancers	Fetal Lung	lung
31	chr6:119064800-119066400	Enhancers	HMEC	breast
32	chr6:119064800-119066600	Enhancers	NH-A	brain
33	chr6:119064800-119066600	Enhancers	NHDF-Ad	bronchial
34	chr6:119064800-119068600	Enhancers	Fetal Stomach	stomach
35	chr6:119065000-119065400	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr6:119065000-119065400	Active TSS	NHLF	lung
37	chr6:119065000-119066200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr6:119065000-119066200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr6:119065000-119066400	Enhancers	Osteobl	bone
40	chr6:119065000-119066800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:119065200-119065400	Enhancers	Stomach Mucosa	stomach
42	chr6:119065200-119066000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:119065200-119069000	Weak transcription	Rectal Mucosa Donor 31	rectum

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