Variant report

Variant	rs2959790
Chromosome Location	chr8:6375704-6375705
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	chr8:6366887..6369432-chr8:6372035..6375805,3	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10087345	0.83[ASN][1000 genomes]
rs10102851	0.83[YRI][hapmap]
rs13250387	0.83[EUR][1000 genomes]
rs13277236	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13278243	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13281117	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17077317	0.90[CEU][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1870	0.91[CEU][hapmap];0.90[CHB][hapmap]
rs1961222	0.86[CEU][hapmap]
rs1975616	0.91[CEU][hapmap];0.86[JPT][hapmap]
rs2167071	0.90[CEU][hapmap]
rs2442618	0.83[ASN][1000 genomes]
rs2442631	0.81[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs2442632	0.81[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs2442633	0.90[CHB][hapmap];0.80[ASN][1000 genomes]
rs2442634	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs2442635	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs2442636	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs2515420	0.81[ASN][1000 genomes]
rs2515421	0.86[ASN][1000 genomes]
rs2515422	0.88[ASN][1000 genomes]
rs2515424	0.86[ASN][1000 genomes]
rs2515435	0.90[CHB][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2515441	0.97[ASN][1000 genomes]
rs2515446	0.88[ASN][1000 genomes]
rs2916702	0.94[CEU][hapmap]
rs2916724	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs2916725	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2916726	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2916729	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2916731	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2916735	0.81[CEU][hapmap]
rs2916736	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2916747	0.96[YRI][hapmap];0.82[AFR][1000 genomes]
rs2916755	0.95[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2922804	0.91[CEU][hapmap];0.81[CHB][hapmap]
rs2922895	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2922897	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2922900	0.81[CEU][hapmap];0.80[EUR][1000 genomes]
rs2922901	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2922903	0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2922905	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs2922906	0.96[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.80[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2922907	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs2959789	0.81[EUR][1000 genomes]
rs2959791	1.00[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2959793	0.95[CEU][hapmap];0.81[CHB][hapmap]
rs2979671	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2979672	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2979673	0.86[CEU][hapmap];0.80[EUR][1000 genomes]
rs3020210	0.81[CEU][hapmap]
rs3020212	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]
rs3020213	0.95[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3020214	0.90[CEU][hapmap];0.81[CHB][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3020216	0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3020217	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3020218	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3020219	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]
rs3020221	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35948012	0.84[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:88 , 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	chr8:6336800-6377600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr8:6338800-6389600	Weak transcription	HSMMtube	muscle
4	chr8:6342400-6421400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr8:6345800-6402400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:6346200-6386000	Weak transcription	NH-A	brain
7	chr8:6352400-6391400	Weak transcription	Ovary	ovary
8	chr8:6357800-6391400	Weak transcription	Colonic Mucosa	Colon
9	chr8:6359200-6389200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:6360400-6386200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:6360800-6383800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:6361200-6375800	Weak transcription	Right Ventricle	heart
13	chr8:6361200-6378000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr8:6361200-6380800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr8:6361200-6386000	Weak transcription	Fetal Intestine Large	intestine
16	chr8:6361400-6380000	Weak transcription	Colon Smooth Muscle	Colon
17	chr8:6362600-6378200	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr8:6364200-6377200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:6364200-6417200	Weak transcription	Fetal Kidney	kidney
20	chr8:6364200-6478200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr8:6366600-6376600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:6366800-6389800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr8:6367200-6417000	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr8:6367400-6389200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:6367600-6379200	Weak transcription	HSMM	muscle
26	chr8:6368800-6392200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:6370200-6381400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:6370200-6383400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr8:6370200-6400800	Weak transcription	Fetal Intestine Small	intestine
30	chr8:6370400-6376400	Weak transcription	Gastric	stomach
31	chr8:6370400-6376400	Weak transcription	Spleen	Spleen
32	chr8:6370400-6376600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:6370400-6376600	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr8:6370400-6382600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr8:6370400-6383800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr8:6370400-6386000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr8:6370400-6389200	Weak transcription	Osteobl	bone
38	chr8:6370400-6391200	Weak transcription	Primary B cells from peripheral blood	blood
39	chr8:6370400-6400200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr8:6370400-6402600	Weak transcription	GM12878-XiMat	blood
41	chr8:6370400-6403000	Weak transcription	Primary B cells from cord blood	blood
42	chr8:6370400-6405000	Weak transcription	Duodenum Mucosa	Duodenum
43	chr8:6372600-6375800	Enhancers	Brain Hippocampus Middle	brain
44	chr8:6372800-6376800	Enhancers	Primary hematopoietic stem cells	blood
45	chr8:6372800-6377600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr8:6373000-6376400	Weak transcription	Fetal Stomach	stomach
47	chr8:6373000-6376400	Weak transcription	Left Ventricle	heart
48	chr8:6373200-6390200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr8:6373600-6375800	Weak transcription	Lung	lung
50	chr8:6373600-6376400	Weak transcription	Pancreas	Pancrea

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