Variant report

Variant	rs3020219
Chromosome Location	chr8:6372975-6372976
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:61)

rs_ID	r²[population]
rs10087345	0.81[EUR][1000 genomes]
rs10102851	0.91[YRI][hapmap];0.85[AFR][1000 genomes]
rs13250387	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13277236	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13278243	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13281117	1.00[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17077317	0.91[CEU][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1870	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs1961222	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs1975616	0.91[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap]
rs2167071	0.90[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap]
rs2442629	0.82[ASN][1000 genomes]
rs2442631	0.90[CHB][hapmap];0.87[JPT][hapmap];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2442632	0.90[CHB][hapmap];0.87[JPT][hapmap];0.93[ASN][1000 genomes]
rs2442633	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs2442634	0.90[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs2442635	0.90[CHB][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs2442636	0.90[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs2515420	0.92[ASN][1000 genomes]
rs2515421	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2515422	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2515424	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2515435	1.00[CHB][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2515441	0.91[ASN][1000 genomes]
rs2515446	0.82[ASN][1000 genomes]
rs2916702	0.94[CEU][hapmap]
rs2916725	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2916726	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2916729	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2916731	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2916735	0.82[CEU][hapmap]
rs2916736	1.00[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2916755	0.96[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap];0.81[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2922804	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs2922895	0.90[CHB][hapmap];0.87[JPT][hapmap];0.91[ASN][1000 genomes]
rs2922897	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2922900	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs2922901	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2922903	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2922905	0.90[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs2922906	0.96[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2922907	0.90[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs2959789	0.83[EUR][1000 genomes]
rs2959790	1.00[CEU][hapmap];0.89[CHB][hapmap];0.86[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2959791	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959793	0.96[CEU][hapmap];1.00[CHB][hapmap]
rs2979671	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2979672	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2979673	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs3020210	0.82[CEU][hapmap]
rs3020212	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]
rs3020213	0.95[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3020214	0.91[CEU][hapmap];0.90[CHB][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3020216	0.85[JPT][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3020217	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3020218	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3020221	1.00[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35473795	0.80[EUR][1000 genomes]
rs35948012	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71525733	0.81[EUR][1000 genomes]
rs71525734	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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
14	nsv522043	chr8:6371476-6374353	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6317800-6380200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr8:6325800-6374400	Weak transcription	K562	blood
3	chr8:6336800-6377600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr8:6338800-6389600	Weak transcription	HSMMtube	muscle
5	chr8:6341000-6375000	Weak transcription	Brain Angular Gyrus	brain
6	chr8:6342400-6421400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr8:6345800-6402400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:6346200-6386000	Weak transcription	NH-A	brain
9	chr8:6352000-6375600	Weak transcription	Aorta	Aorta
10	chr8:6352400-6391400	Weak transcription	Ovary	ovary
11	chr8:6355800-6373000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr8:6357800-6391400	Weak transcription	Colonic Mucosa	Colon
13	chr8:6359000-6374800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr8:6359200-6374000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr8:6359200-6389200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:6360400-6386200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:6360600-6373800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:6360800-6383800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:6361200-6375200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr8:6361200-6375800	Weak transcription	Right Ventricle	heart
21	chr8:6361200-6378000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr8:6361200-6380800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr8:6361200-6386000	Weak transcription	Fetal Intestine Large	intestine
24	chr8:6361400-6380000	Weak transcription	Colon Smooth Muscle	Colon
25	chr8:6362600-6378200	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr8:6364200-6377200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:6364200-6417200	Weak transcription	Fetal Kidney	kidney
28	chr8:6364200-6478200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr8:6364800-6373000	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr8:6366600-6376600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:6366800-6389800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr8:6367200-6417000	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr8:6367400-6389200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr8:6367600-6379200	Weak transcription	HSMM	muscle
35	chr8:6368400-6375200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr8:6368800-6392200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr8:6369600-6373600	Strong transcription	Primary T cells from cord blood	blood
38	chr8:6370200-6373400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr8:6370200-6381400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:6370200-6383400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr8:6370200-6400800	Weak transcription	Fetal Intestine Small	intestine
42	chr8:6370400-6373200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:6370400-6373400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:6370400-6373800	Weak transcription	Fetal Lung	lung
45	chr8:6370400-6376400	Weak transcription	Gastric	stomach
46	chr8:6370400-6376400	Weak transcription	Spleen	Spleen
47	chr8:6370400-6376600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr8:6370400-6376600	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr8:6370400-6382600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr8:6370400-6383800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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