Variant report

Variant	rs4709143
Chromosome Location	chr6:167454679-167454680
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:167454169..167455868-chr6:167473255..167476211,2	K562	blood:
2	chr6:167446559..167451164-chr6:167453044..167456262,4	K562	blood:
3	chr6:167453011..167457183-chr6:167458189..167461851,4	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11754776	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11758496	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11965188	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12175077	0.85[CEU][hapmap];0.81[CHB][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs149887	0.83[EUR][1000 genomes]
rs150111	0.83[EUR][1000 genomes]
rs150113	0.83[EUR][1000 genomes]
rs150115	0.83[EUR][1000 genomes]
rs2093415	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap]
rs4709142	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4710155	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4710180	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6928890	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs743911	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs86757	0.83[EUR][1000 genomes]
rs9347171	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9348223	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9366079	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9366081	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9366082	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9366090	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv605260	chr6:166984094-167455139	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1019381	chr6:167090236-167558598	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv538541	chr6:167090236-167558598	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv948634	chr6:167200671-167838993	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
5	nsv482507	chr6:167282376-167474915	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking 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	11 gene(s)	inside rSNPs	diseases
6	nsv532074	chr6:167320656-167781977	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1031039	chr6:167324021-167741439	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
8	nsv538543	chr6:167324021-167741439	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
9	nsv1026972	chr6:167335031-167671042	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
10	nsv464140	chr6:167426681-167492552	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv886943	chr6:167440244-167502638	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	esv2752099	chr6:167448181-167579102	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv519550	chr6:167450609-167473685	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167415400-167456600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:167417200-167455400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:167417600-167454800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr6:167417800-167455200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:167423000-167457600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:167438000-167456200	Strong transcription	Adipose Nuclei	Adipose
7	chr6:167440400-167459400	Weak transcription	Colon Smooth Muscle	Colon
8	chr6:167441000-167461800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr6:167441200-167456600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:167441400-167455400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr6:167441400-167456200	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr6:167441400-167473400	Weak transcription	Psoas Muscle	Psoas
13	chr6:167441600-167455600	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr6:167441800-167456000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:167444800-167456200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:167445600-167460200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr6:167447200-167456200	Strong transcription	HepG2	liver
18	chr6:167447400-167455200	Strong transcription	Liver	Liver
19	chr6:167448000-167458400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr6:167448200-167456000	Weak transcription	Right Ventricle	heart
21	chr6:167448200-167458200	Weak transcription	Colonic Mucosa	Colon
22	chr6:167448200-167459000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr6:167448200-167459800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr6:167448200-167467200	Weak transcription	HMEC	breast
25	chr6:167448400-167455200	Weak transcription	Brain Angular Gyrus	brain
26	chr6:167448400-167456400	Weak transcription	Hela-S3	cervix
27	chr6:167448400-167467200	Weak transcription	NHEK	skin
28	chr6:167448800-167460000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr6:167449000-167456000	Weak transcription	Lung	lung
30	chr6:167449000-167456000	Weak transcription	Spleen	Spleen
31	chr6:167449000-167457600	Weak transcription	NHLF	lung
32	chr6:167449000-167458000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr6:167449000-167459400	Weak transcription	Fetal Kidney	kidney
34	chr6:167449000-167467800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr6:167449000-167470400	Weak transcription	Brain Anterior Caudate	brain
36	chr6:167449200-167456000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr6:167449200-167457800	Weak transcription	Pancreas	Pancrea
38	chr6:167449800-167459600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr6:167449800-167462800	Weak transcription	Brain Hippocampus Middle	brain
40	chr6:167450000-167456600	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr6:167450000-167457800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr6:167450000-167458200	Weak transcription	Gastric	stomach
43	chr6:167450000-167459200	Weak transcription	Small Intestine	intestine
44	chr6:167450000-167460800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr6:167450000-167467400	Weak transcription	Ovary	ovary
46	chr6:167450200-167463000	Weak transcription	Brain Germinal Matrix	brain
47	chr6:167450600-167460600	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr6:167450600-167463000	Weak transcription	Fetal Brain Female	brain
49	chr6:167451200-167460200	Weak transcription	Placenta	Placenta
50	chr6:167451400-167454800	Weak transcription	Primary monocytes fromperipheralblood	blood

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