Variant report

Variant	rs6993049
Chromosome Location	chr8:121798339-121798340
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10100219	1.00[CEU][hapmap]
rs13259820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13266005	1.00[CEU][hapmap]
rs13267880	1.00[CEU][hapmap]
rs13269664	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13274524	1.00[CEU][hapmap]
rs34072257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34255801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34385297	0.95[EUR][1000 genomes]
rs34473121	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34632392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35201684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35803869	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4327892	1.00[CEU][hapmap]
rs4345604	1.00[CEU][hapmap]
rs4509376	1.00[CEU][hapmap]
rs57849838	0.91[AFR][1000 genomes]
rs59370568	0.91[AFR][1000 genomes]
rs59536599	0.91[AFR][1000 genomes]
rs59760493	0.91[AFR][1000 genomes]
rs61168588	0.91[AFR][1000 genomes]
rs6988816	1.00[CEU][hapmap]
rs7010152	1.00[CEU][hapmap]
rs7010935	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7011039	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71514722	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7463542	0.91[YRI][hapmap];0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016172	chr8:121679590-121929916	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv891422	chr8:121680857-121819478	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2757289	chr8:121765701-121828919	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2759640	chr8:121765701-121828919	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats 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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121770200-121798600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:121793800-121799000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr8:121794200-121798600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:121795000-121799200	Enhancers	Liver	Liver
5	chr8:121795800-121799200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:121795800-121799200	Enhancers	Psoas Muscle	Psoas
7	chr8:121795800-121805200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:121796400-121798600	Enhancers	NHLF	lung
9	chr8:121796600-121798800	Enhancers	Fetal Muscle Leg	muscle
10	chr8:121796600-121799000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr8:121796600-121799000	Enhancers	Fetal Muscle Trunk	muscle
12	chr8:121796600-121799000	Enhancers	HSMMtube	muscle
13	chr8:121796600-121799200	Enhancers	Primary T cells fromperipheralblood	blood
14	chr8:121796600-121799200	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr8:121796600-121799400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
16	chr8:121796600-121799400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:121796600-121799400	Enhancers	NHDF-Ad	bronchial
18	chr8:121796800-121799200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:121796800-121799200	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr8:121796800-121799200	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr8:121796800-121799400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr8:121797000-121798600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr8:121797000-121798800	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr8:121797000-121798800	Enhancers	HSMM	muscle
25	chr8:121797000-121799000	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr8:121797000-121799200	Enhancers	Adipose Nuclei	Adipose
27	chr8:121797200-121798400	Enhancers	Hela-S3	cervix
28	chr8:121797200-121798600	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr8:121797200-121798600	Enhancers	Right Ventricle	heart
30	chr8:121797200-121798800	Enhancers	Right Atrium	heart
31	chr8:121797200-121799000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:121797200-121799000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr8:121797200-121799000	Enhancers	Placenta	Placenta
34	chr8:121797200-121799000	Enhancers	Left Ventricle	heart
35	chr8:121797200-121799200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr8:121797200-121799400	Enhancers	H1 Cell Line	embryonic stem cell
37	chr8:121797200-121799400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr8:121797200-121799400	ZNF genes & repeats	Fetal Intestine Small	intestine
39	chr8:121797400-121798600	Enhancers	Primary B cells from cord blood	blood
40	chr8:121797400-121798800	Enhancers	Brain Anterior Caudate	brain
41	chr8:121797400-121799000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:121797400-121799000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:121797400-121799000	Enhancers	Spleen	Spleen
44	chr8:121797400-121799000	Enhancers	NH-A	brain
45	chr8:121797400-121799200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr8:121797400-121799200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr8:121797400-121799200	Enhancers	Lung	lung
48	chr8:121797400-121799400	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr8:121797400-121799400	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr8:121797600-121798400	Enhancers	Gastric	stomach

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