Variant report

Variant	rs2922850
Chromosome Location	chr8:6456210-6456211
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2442567	1.00[CEU][hapmap]
rs2922848	1.00[CEU][hapmap]
rs2922849	1.00[CEU][hapmap]
rs2922854	1.00[CEU][hapmap]
rs2922856	1.00[CEU][hapmap]
rs2959787	1.00[CEU][hapmap]
rs2980674	0.85[AMR][1000 genomes]
rs2980676	1.00[CEU][hapmap]
rs3020248	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021175	chr8:5965453-6880364	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1027682	chr8:6018123-6920312	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv3506199	chr8:6116693-6536592	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
4	esv3506200	chr8:6116693-6536592	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1015981	chr8:6286575-6578450	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1027313	chr8:6286575-6920312	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv1021684	chr8:6350091-6809455	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	esv2422383	chr8:6362389-6781593	Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv610004	chr8:6402366-6772913	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
10	nsv1029241	chr8:6411300-6761720	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6364200-6478200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:6419000-6462400	Weak transcription	GM12878-XiMat	blood
3	chr8:6421600-6462800	Weak transcription	Primary B cells from cord blood	blood
4	chr8:6432400-6457600	Weak transcription	Gastric	stomach
5	chr8:6442600-6479000	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr8:6443400-6456400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:6450200-6478400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr8:6450800-6456400	Enhancers	Left Ventricle	heart
9	chr8:6452000-6459600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:6452400-6456400	Weak transcription	Brain Angular Gyrus	brain
11	chr8:6452400-6457600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:6452400-6459800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr8:6452400-6464000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr8:6452800-6456400	Strong transcription	Thymus	Thymus
15	chr8:6452800-6456600	Weak transcription	Fetal Lung	lung
16	chr8:6452800-6457200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr8:6453000-6456400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:6453000-6456600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:6453000-6457000	Weak transcription	HSMMtube	muscle
20	chr8:6453200-6456400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:6453200-6456400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr8:6453200-6456400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr8:6453200-6456400	Weak transcription	Brain Substantia Nigra	brain
24	chr8:6453200-6457000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:6453200-6458800	Weak transcription	Esophagus	oesophagus
26	chr8:6453200-6459000	Weak transcription	Pancreas	Pancrea
27	chr8:6453200-6462600	Weak transcription	Primary B cells from peripheral blood	blood
28	chr8:6453200-6464000	Weak transcription	Spleen	Spleen
29	chr8:6453200-6467600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr8:6453400-6456600	Weak transcription	HSMM	muscle
31	chr8:6453400-6457800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr8:6453800-6456400	Weak transcription	NHDF-Ad	bronchial
33	chr8:6453800-6457600	Weak transcription	NHLF	lung
34	chr8:6454000-6456400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr8:6454000-6456400	Weak transcription	Brain Hippocampus Middle	brain
36	chr8:6454000-6456600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:6454000-6459600	Weak transcription	Ovary	ovary
38	chr8:6454000-6459800	Weak transcription	Fetal Thymus	thymus
39	chr8:6454200-6462600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:6454400-6456400	Weak transcription	Dnd41	blood
41	chr8:6454600-6456800	Enhancers	Placenta	Placenta
42	chr8:6454800-6456800	Enhancers	Adipose Nuclei	Adipose
43	chr8:6455200-6456400	Enhancers	Lung	lung
44	chr8:6455200-6456400	Enhancers	Right Atrium	heart
45	chr8:6455200-6456800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr8:6455200-6458600	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr8:6455400-6456600	Enhancers	HUVEC	blood vessel
48	chr8:6455400-6457000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr8:6455400-6460400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr8:6455600-6456400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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