Variant report

Variant	rs3020212
Chromosome Location	chr8:6368980-6368981
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:6366887..6369432-chr8:6372035..6375805,3	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10102851	0.83[YRI][hapmap]
rs11776519	0.83[CEU][hapmap]
rs11779674	0.80[AMR][1000 genomes]
rs11779676	0.81[EUR][1000 genomes]
rs13277236	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13278243	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13281117	0.95[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17077317	0.86[CEU][hapmap];0.81[JPT][hapmap];0.81[AMR][1000 genomes]
rs1870	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.83[EUR][1000 genomes]
rs1961222	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs1975616	0.95[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap]
rs2167071	0.95[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes]
rs2408342	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2442629	0.81[ASN][1000 genomes]
rs2442631	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2442632	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2442633	0.90[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs2442634	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2442635	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2442636	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2515420	0.91[ASN][1000 genomes]
rs2515421	0.97[ASN][1000 genomes]
rs2515422	0.95[ASN][1000 genomes]
rs2515424	0.97[ASN][1000 genomes]
rs2515435	0.91[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs2515441	0.86[ASN][1000 genomes]
rs2916702	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2916715	0.82[CEU][hapmap]
rs2916725	0.96[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2916726	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2916729	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2916731	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2916735	0.87[CEU][hapmap];0.86[EUR][1000 genomes]
rs2916736	1.00[CEU][hapmap];0.83[CHB][hapmap];0.87[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2916755	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2916756	0.83[CEU][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2922804	0.95[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];0.83[EUR][1000 genomes]
rs2922895	0.83[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs2922897	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2922900	0.84[EUR][1000 genomes]
rs2922901	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2922903	0.81[JPT][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2922905	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2922906	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2922907	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2959790	0.95[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2959791	0.96[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2959793	1.00[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2979671	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2979672	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2979673	0.87[CEU][hapmap];0.84[EUR][1000 genomes]
rs3020210	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs3020213	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3020214	0.95[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3020215	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3020216	0.93[JPT][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3020217	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3020218	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3020219	0.96[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3020221	0.95[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35473795	0.84[EUR][1000 genomes]
rs3958765	0.83[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	nsv890034	chr8:5926632-6427868	Enhancers Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	nsv933282	chr8:6261036-6440592	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	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
8	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
9	nsv890057	chr8:6317165-6427868	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	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
11	nsv1022895	chr8:6355213-6414874	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv933260	chr8:6357124-6410013	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	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

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6308000-6372600	Weak transcription	HMEC	breast
2	chr8:6317800-6380200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr8:6325800-6374400	Weak transcription	K562	blood
4	chr8:6336800-6377600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr8:6338800-6369600	Weak transcription	Spleen	Spleen
6	chr8:6338800-6389600	Weak transcription	HSMMtube	muscle
7	chr8:6340400-6371600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr8:6340800-6371800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr8:6341000-6372000	Weak transcription	A549	lung
10	chr8:6341000-6375000	Weak transcription	Brain Angular Gyrus	brain
11	chr8:6341200-6369400	Weak transcription	Primary B cells from cord blood	blood
12	chr8:6341200-6371200	Weak transcription	Fetal Brain Female	brain
13	chr8:6342400-6369600	Weak transcription	NHEK	skin
14	chr8:6342400-6421400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr8:6345800-6402400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:6346200-6386000	Weak transcription	NH-A	brain
17	chr8:6350600-6369600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr8:6352000-6375600	Weak transcription	Aorta	Aorta
19	chr8:6352400-6391400	Weak transcription	Ovary	ovary
20	chr8:6352600-6372800	Weak transcription	Brain Substantia Nigra	brain
21	chr8:6354600-6370600	Weak transcription	Small Intestine	intestine
22	chr8:6355600-6372800	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr8:6355800-6373000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr8:6357800-6391400	Weak transcription	Colonic Mucosa	Colon
25	chr8:6358800-6369800	Weak transcription	Brain Hippocampus Middle	brain
26	chr8:6359000-6374800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr8:6359200-6374000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr8:6359200-6389200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:6360400-6386200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:6360600-6373800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:6360800-6371800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr8:6360800-6383800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:6361200-6369600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:6361200-6369600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr8:6361200-6369600	Weak transcription	Left Ventricle	heart
36	chr8:6361200-6369600	Weak transcription	Osteobl	bone
37	chr8:6361200-6369800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr8:6361200-6369800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:6361200-6369800	Weak transcription	Lung	lung
40	chr8:6361200-6372000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr8:6361200-6372800	Weak transcription	Primary hematopoietic stem cells	blood
42	chr8:6361200-6372800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr8:6361200-6375200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr8:6361200-6375800	Weak transcription	Right Ventricle	heart
45	chr8:6361200-6378000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr8:6361200-6380800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr8:6361200-6386000	Weak transcription	Fetal Intestine Large	intestine
48	chr8:6361400-6369600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr8:6361400-6369600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr8:6361400-6369600	Weak transcription	Esophagus	oesophagus

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