Variant report

Variant	rs2235287
Chromosome Location	chr6:166877532-166877533
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	chr6:166867376..166869497-chr6:166875533..166878478,2	K562	blood:
2	chr6:166873172..166875809-chr6:166876336..166878720,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1004699	0.93[YRI][hapmap];0.83[AFR][1000 genomes]
rs1004700	0.81[CEU][hapmap];0.88[CHD][hapmap];0.87[LWK][hapmap];0.94[MEX][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10946168	0.92[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs12202788	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs2235284	0.93[CEU][hapmap];0.92[CHB][hapmap];0.87[JPT][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2281046	0.85[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];0.87[JPT][hapmap];0.94[MEX][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3817790	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3817791	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3817794	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3817795	0.92[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4710053	0.92[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs9295349	1.00[CEU][hapmap];0.87[GIH][hapmap];0.94[TSI][hapmap];0.96[EUR][1000 genomes]
rs9459677	0.92[CEU][hapmap];0.99[EUR][1000 genomes]
rs9459678	0.96[CHD][hapmap];0.87[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	nsv886937	chr6:166830696-166922813	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv886938	chr6:166859725-166904398	Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv886939	chr6:166859725-166922813	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr6:166808200-166911800	Weak transcription	Psoas Muscle	Psoas
2	chr6:166824000-166901400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr6:166833200-166879000	Weak transcription	NH-A	brain
4	chr6:166833400-166879000	Weak transcription	HSMM	muscle
5	chr6:166834200-166879400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:166846000-166881000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:166862400-166900600	Weak transcription	Primary T cells from cord blood	blood
8	chr6:166862400-166920600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:166862600-166878800	Weak transcription	Brain Substantia Nigra	brain
10	chr6:166862600-166879400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr6:166862600-166883000	Weak transcription	Aorta	Aorta
12	chr6:166862600-166883000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr6:166862800-166878000	Weak transcription	HSMMtube	muscle
14	chr6:166863600-166900200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:166863600-166902000	Weak transcription	Small Intestine	intestine
16	chr6:166864600-166883000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:166864800-166899800	Weak transcription	Esophagus	oesophagus
18	chr6:166867400-166879200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:166867400-166892800	Weak transcription	Fetal Brain Male	brain
20	chr6:166867600-166900000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr6:166870400-166898400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:166870600-166881000	Weak transcription	Fetal Kidney	kidney
23	chr6:166871000-166901400	Weak transcription	Stomach Mucosa	stomach
24	chr6:166871200-166879000	Weak transcription	Right Atrium	heart
25	chr6:166871800-166879400	Weak transcription	Fetal Lung	lung
26	chr6:166872000-166900400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr6:166872200-166900400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr6:166872400-166877600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:166872400-166878000	Weak transcription	Fetal Intestine Small	intestine
30	chr6:166872800-166879000	Weak transcription	Brain Hippocampus Middle	brain
31	chr6:166872800-166879000	Weak transcription	NHDF-Ad	bronchial
32	chr6:166873000-166902800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr6:166873600-166879000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:166873800-166878400	Enhancers	Primary B cells from peripheral blood	blood
35	chr6:166873800-166879000	Enhancers	Primary B cells from cord blood	blood
36	chr6:166874200-166878400	Enhancers	Primary hematopoietic stem cells	blood
37	chr6:166874200-166885200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr6:166874600-166879200	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr6:166874800-166880600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr6:166874800-166903000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr6:166875000-166877800	Weak transcription	HUVEC	blood vessel
42	chr6:166875000-166881000	Weak transcription	NHEK	skin
43	chr6:166875000-166900800	Weak transcription	Fetal Heart	heart
44	chr6:166875200-166879000	Strong transcription	NHLF	lung
45	chr6:166875400-166879400	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr6:166875400-166881200	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr6:166875400-166885400	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr6:166875600-166879200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:166875600-166879200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr6:166875600-166879400	Strong transcription	Left Ventricle	heart

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