Variant report

Variant	rs313202
Chromosome Location	chr6:86112738-86112739
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10944122	0.84[ASN][1000 genomes]
rs10944123	0.84[ASN][1000 genomes]
rs11756590	0.82[ASN][1000 genomes]
rs1665785	0.85[AFR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs172687	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs313197	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs313205	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs483009	0.84[ASN][1000 genomes]
rs532366	0.90[AFR][1000 genomes]
rs545968	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs545969	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs550763	0.90[AFR][1000 genomes]
rs560334	0.88[AFR][1000 genomes]
rs577388	0.95[YRI][hapmap];0.89[AFR][1000 genomes]
rs597623	0.95[YRI][hapmap];0.89[AFR][1000 genomes]
rs600610	0.85[AFR][1000 genomes]
rs631913	0.86[AFR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs631949	0.90[EUR][1000 genomes]
rs634511	0.85[AFR][1000 genomes]
rs645354	0.95[YRI][hapmap]
rs653241	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs692830	0.89[AFR][1000 genomes]
rs9353308	0.87[ASN][1000 genomes]
rs9444336	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9450261	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017418	chr6:85344786-86259540	Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv538347	chr6:85344786-86259540	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1022445	chr6:85972678-86392968	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv538349	chr6:85972678-86392968	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
5	nsv830721	chr6:85987644-86147414	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv3326486	chr6:86020165-86292456	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1019960	chr6:86023236-86136666	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv3435075	chr6:86052235-86271910	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer 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	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:86108400-86116600	Enhancers	Fetal Intestine Small	intestine
2	chr6:86108800-86113400	Enhancers	HepG2	liver
3	chr6:86109400-86113000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:86109600-86113000	Weak transcription	Pancreas	Pancrea
5	chr6:86110000-86112800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr6:86110000-86113000	Enhancers	HUVEC	blood vessel
7	chr6:86110200-86115800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr6:86110200-86116000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:86110400-86113000	Enhancers	A549	lung
10	chr6:86110400-86113000	Enhancers	Osteobl	bone
11	chr6:86110800-86116600	Enhancers	Fetal Intestine Large	intestine
12	chr6:86111000-86112800	Enhancers	NH-A	brain
13	chr6:86111000-86113000	Enhancers	Hela-S3	cervix
14	chr6:86111000-86113200	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr6:86111000-86113200	Enhancers	NHLF	lung
16	chr6:86111000-86113600	Enhancers	Adipose Nuclei	Adipose
17	chr6:86111000-86113800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr6:86111000-86114200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:86111000-86114600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr6:86111000-86115800	Enhancers	Primary T cells from cord blood	blood
21	chr6:86111000-86116200	Enhancers	Small Intestine	intestine
22	chr6:86111000-86116600	Enhancers	Placenta Amnion	Placenta Amnion
23	chr6:86111200-86112800	Enhancers	NHEK	skin
24	chr6:86111200-86113000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:86111200-86113000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr6:86111200-86113000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr6:86111200-86113000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:86111200-86113000	Enhancers	HMEC	breast
29	chr6:86111200-86113000	Enhancers	NHDF-Ad	bronchial
30	chr6:86111200-86113200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr6:86111200-86113200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr6:86111200-86113400	Enhancers	Ovary	ovary
33	chr6:86111200-86114600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr6:86111200-86115200	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr6:86111200-86116200	Enhancers	Stomach Mucosa	stomach
36	chr6:86111200-86116400	Enhancers	Placenta	Placenta
37	chr6:86111400-86112800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr6:86111400-86113000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:86111400-86113000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr6:86111400-86113000	Enhancers	HSMM	muscle
41	chr6:86111400-86113200	Enhancers	HSMMtube	muscle
42	chr6:86111400-86113400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr6:86111400-86113400	Weak transcription	Fetal Lung	lung
44	chr6:86111400-86113400	Enhancers	Lung	lung
45	chr6:86111400-86114200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr6:86111400-86114200	Enhancers	Colonic Mucosa	Colon
47	chr6:86111400-86115200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr6:86111400-86115600	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr6:86111600-86112800	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr6:86111600-86113200	Weak transcription	Gastric	stomach

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