Variant report

Variant	rs2812712
Chromosome Location	chr6:80376092-80376093
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	chr6:80375563..80378458-chr6:80382282..80385126,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1009742	0.85[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1883878	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2235880	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.85[MEX][hapmap];0.93[ASN][1000 genomes]
rs2473826	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2746314	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2746316	0.89[EUR][1000 genomes]
rs2746317	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2812701	0.87[ASN][1000 genomes]
rs2812703	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2812708	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2812713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6927296	0.86[JPT][hapmap]
rs980225	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1018318	chr6:80241029-80465282	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1032347	chr6:80284809-80694778	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh 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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80358400-80377800	Weak transcription	Spleen	Spleen
2	chr6:80360000-80377800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr6:80360000-80378000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:80365400-80378000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr6:80366200-80384000	Weak transcription	Brain Germinal Matrix	brain
6	chr6:80366400-80380600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:80372600-80378800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr6:80372600-80382600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr6:80373400-80412400	Weak transcription	Fetal Brain Male	brain
10	chr6:80373800-80377800	Weak transcription	Small Intestine	intestine
11	chr6:80373800-80378000	Weak transcription	Esophagus	oesophagus
12	chr6:80374000-80378000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:80374000-80379800	Weak transcription	Colonic Mucosa	Colon
14	chr6:80374000-80381200	Weak transcription	Brain Anterior Caudate	brain
15	chr6:80374000-80381600	Weak transcription	Fetal Brain Female	brain
16	chr6:80374400-80377800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr6:80374400-80380600	Weak transcription	K562	blood
18	chr6:80374400-80381400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:80374400-80381400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr6:80374400-80381400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr6:80374400-80383600	Weak transcription	Right Ventricle	heart
22	chr6:80374400-80386800	Weak transcription	Right Atrium	heart
23	chr6:80375200-80376200	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr6:80375200-80377400	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr6:80375400-80376200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr6:80375400-80376400	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr6:80375400-80376600	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr6:80375600-80376200	Enhancers	H1 Cell Line	embryonic stem cell
29	chr6:80375600-80376200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr6:80375600-80376200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:80375600-80376200	Enhancers	Fetal Lung	lung
32	chr6:80375600-80376200	Enhancers	Left Ventricle	heart
33	chr6:80375600-80376200	Enhancers	Lung	lung
34	chr6:80375600-80376200	Enhancers	Pancreas	Pancrea
35	chr6:80375600-80376400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr6:80375600-80376400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr6:80375600-80376400	Enhancers	Brain Substantia Nigra	brain
38	chr6:80375600-80376400	Enhancers	Placenta Amnion	Placenta Amnion
39	chr6:80375600-80376600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:80375600-80376800	Enhancers	Fetal Intestine Small	intestine
41	chr6:80375600-80377000	Enhancers	HepG2	liver
42	chr6:80375600-80377200	Enhancers	Primary T cells from cord blood	blood
43	chr6:80375600-80378400	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr6:80375600-80378400	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr6:80375600-80378800	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr6:80375800-80376200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr6:80375800-80376200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:80375800-80376200	Enhancers	H9 Cell Line	embryonic stem cell
49	chr6:80375800-80376200	Enhancers	Primary T cells fromperipheralblood	blood
50	chr6:80375800-80376200	Enhancers	Brain Angular Gyrus	brain

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