Variant report

Variant	rs4713642
Chromosome Location	chr6:33590471-33590472
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33588748..33590902-chr6:33677628..33680104,3	K562	blood:
2	chr6:33588748..33590595-chr6:33677611..33680104,2	K562	blood:
3	chr6:33589679..33592438-chr6:33605298..33608151,2	MCF-7	breast:
4	chr17:56736454..56738602-chr6:33589465..33592275,2	MCF-7	breast:
5	chr6:33238566..33241234-chr6:33590269..33592399,2	K562	blood:
6	chr6:33586212..33588848-chr6:33589323..33592935,3	K562	blood:
7	chr12:53297626..53300477-chr6:33588925..33590822,2	MCF-7	breast:
8	chr6:33590320..33593181-chr6:33667665..33670096,2	MCF-7	breast:
9	chr6:33561576..33563352-chr6:33589353..33591952,2	K562	blood:
10	chr6:33551460..33554975-chr6:33588078..33592105,4	K562	blood:
11	chr6:33589305..33592124-chr6:33949466..33952412,2	MCF-7	breast:
12	chr6:33587667..33592228-chr6:33677016..33679936,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000204188	Chromatin interaction
ENSG00000223501	Chromatin interaction
ENSG00000096433	Chromatin interaction
ENSG00000137288	Chromatin interaction
ENSG00000231500	Chromatin interaction
ENSG00000170421	Chromatin interaction
ENSG00000202077	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10947416	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10947428	0.82[JPT][hapmap]
rs1536043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1794681	0.84[ASW][hapmap];0.91[LWK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs1794682	0.93[AFR][1000 genomes]
rs2395451	0.82[AFR][1000 genomes]
rs396746	0.82[JPT][hapmap]
rs4711332	1.00[CHB][hapmap];0.82[JPT][hapmap];0.92[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs4713641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713643	0.88[AFR][1000 genomes]
rs475982	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs494654	0.90[AFR][1000 genomes]
rs499384	0.87[ASW][hapmap];0.92[LWK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs560218	1.00[MEX][hapmap]
rs5745577	0.82[JPT][hapmap]
rs578452	0.94[AFR][1000 genomes]
rs6921216	0.85[AFR][1000 genomes]
rs6921825	0.85[AFR][1000 genomes]
rs7750812	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7752930	0.82[AFR][1000 genomes]
rs7753712	0.94[AFR][1000 genomes]
rs7753829	0.94[AFR][1000 genomes]
rs7757391	0.86[ASW][hapmap];0.82[AFR][1000 genomes]
rs7757722	0.86[ASW][hapmap];0.82[AFR][1000 genomes]
rs7768401	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7769019	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7772621	0.82[AFR][1000 genomes]
rs7772766	0.88[AFR][1000 genomes]
rs7775537	0.97[AFR][1000 genomes]
rs9348920	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs9368770	0.82[AFR][1000 genomes]
rs9394157	0.91[YRI][hapmap];0.94[AFR][1000 genomes]
rs9469529	0.87[ASW][hapmap];0.96[LWK][hapmap];1.00[YRI][hapmap];0.97[AFR][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	nsv885770	chr6:33543409-33614127	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers 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	34 gene(s)	inside rSNPs	diseases
2	nsv830638	chr6:33551202-33711346	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
3	nsv5250	chr6:33565017-33598370	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
4	esv1817557	chr6:33584788-33614127	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv1813933	chr6:33587443-33614127	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	esv3321796	chr6:33587999-33590547	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33587800-33590600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr6:33588000-33590600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:33588000-33590600	Active TSS	Lung	lung
4	chr6:33588200-33590800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:33589200-33591000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:33589400-33590800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:33589400-33590800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
8	chr6:33589400-33590800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
9	chr6:33589400-33591000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:33589600-33590600	Flanking Active TSS	Primary B cells from peripheral blood	blood
11	chr6:33589600-33590600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
12	chr6:33589600-33590600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
13	chr6:33589800-33590600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
14	chr6:33589800-33590600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr6:33589800-33590600	Flanking Bivalent TSS/Enh	HepG2	liver
16	chr6:33589800-33590600	Flanking Active TSS	HUVEC	blood vessel
17	chr6:33589800-33590800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr6:33589800-33590800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr6:33589800-33590800	Flanking Active TSS	K562	blood
20	chr6:33589800-33591000	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr6:33589800-33591000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr6:33589800-33591000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:33589800-33591000	Flanking Active TSS	Colonic Mucosa	Colon
24	chr6:33589800-33591200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:33589800-33591200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr6:33590000-33590600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
27	chr6:33590000-33590600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr6:33590000-33590800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
29	chr6:33590000-33590800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
30	chr6:33590000-33590800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
31	chr6:33590000-33590800	Flanking Active TSS	HSMM	muscle
32	chr6:33590000-33591000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr6:33590000-33591000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr6:33590000-33591000	Enhancers	Placenta Amnion	Placenta Amnion
35	chr6:33590000-33591000	Transcr. at gene 5' and 3'	Dnd41	blood
36	chr6:33590000-33591000	Flanking Active TSS	GM12878-XiMat	blood
37	chr6:33590000-33591000	Flanking Active TSS	NHDF-Ad	bronchial
38	chr6:33590000-33592000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
39	chr6:33590200-33590600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
40	chr6:33590200-33590600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr6:33590200-33590600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr6:33590200-33590600	Enhancers	Pancreas	Pancrea
43	chr6:33590200-33590600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr6:33590200-33590600	Active TSS	Osteobl	bone
45	chr6:33590200-33590800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr6:33590200-33590800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr6:33590200-33590800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr6:33590200-33590800	Flanking Active TSS	NHEK	skin
49	chr6:33590200-33591000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr6:33590200-33591000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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