Variant report

Variant	rs11997426
Chromosome Location	chr8:99046985-99046986
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:99044015..99047319-chr8:99128831..99131004,3	MCF-7	breast:
2	chr8:99045231..99047027-chr8:99117010..99119612,2	MCF-7	breast:
3	chr8:98919911..98922247-chr8:99046173..99048489,2	MCF-7	breast:
4	chr8:98884431..98886188-chr8:99045640..99048054,2	MCF-7	breast:
5	chr8:99032274..99033861-chr8:99045862..99047865,2	MCF-7	breast:
6	chr8:99038891..99041151-chr8:99046803..99048335,2	MCF-7	breast:
7	chr8:98850183..98852716-chr8:99046783..99048608,2	MCF-7	breast:
8	chr8:99046565..99048917-chr8:99089595..99092065,2	MCF-7	breast:
9	chr8:99045803..99047373-chr8:99047761..99049281,2	K562	blood:
10	chr8:98845847..98848474-chr8:99046760..99048415,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000104356	Chromatin interaction
ENSG00000132541	Chromatin interaction
ENSG00000132561	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10098159	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10955141	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10955142	1.00[ASN][1000 genomes]
rs10955145	0.92[ASN][1000 genomes]
rs10955146	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10955147	0.86[ASN][1000 genomes]
rs11559201	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11559202	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776602	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11777189	1.00[ASN][1000 genomes]
rs11784449	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11785807	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11990341	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11991161	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11996042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12544193	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12549802	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12549967	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12550104	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13248865	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13254615	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13254737	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13255477	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13265127	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13268951	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13274382	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13279197	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13439743	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16896517	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17829645	1.00[JPT][hapmap]
rs2279120	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290467	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290469	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3088121	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34139241	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34276726	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34899856	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35417638	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3758031	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs55779959	1.00[ASN][1000 genomes]
rs56137923	1.00[ASN][1000 genomes]
rs57866232	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60324498	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68116021	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs68131553	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6985709	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986891	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6987112	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7004993	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7012838	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7016999	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71514975	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72678742	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs812	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99021200-99053600	Weak transcription	A549	lung
2	chr8:99022400-99055200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:99024000-99054800	Weak transcription	Right Ventricle	heart
4	chr8:99024200-99055000	Weak transcription	Fetal Brain Male	brain
5	chr8:99024200-99056000	Weak transcription	Spleen	Spleen
6	chr8:99025000-99052800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:99029000-99053600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr8:99030600-99053400	Weak transcription	Pancreas	Pancrea
9	chr8:99030600-99056800	Weak transcription	Aorta	Aorta
10	chr8:99031000-99055400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:99033800-99054800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:99033800-99055200	Weak transcription	Small Intestine	intestine
13	chr8:99033800-99055600	Weak transcription	Left Ventricle	heart
14	chr8:99034200-99050800	Weak transcription	Colon Smooth Muscle	Colon
15	chr8:99034200-99054200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:99034200-99054800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr8:99035400-99047200	Strong transcription	Fetal Muscle Trunk	muscle
18	chr8:99036000-99047400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr8:99036400-99048600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr8:99036800-99053200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:99037200-99049200	Weak transcription	Brain Anterior Caudate	brain
22	chr8:99037200-99053200	Weak transcription	Fetal Intestine Small	intestine
23	chr8:99037600-99052400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr8:99037600-99054800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr8:99037600-99056400	Weak transcription	Lung	lung
26	chr8:99038000-99047200	Strong transcription	Placenta Amnion	Placenta Amnion
27	chr8:99039000-99048800	Strong transcription	Duodenum Mucosa	Duodenum
28	chr8:99039200-99053000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr8:99040200-99048600	Weak transcription	NHLF	lung
30	chr8:99040400-99047000	Strong transcription	Primary T cells from cord blood	blood
31	chr8:99041200-99048800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:99041400-99053600	Weak transcription	Psoas Muscle	Psoas
33	chr8:99041600-99051400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr8:99042400-99053000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:99042600-99047200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr8:99042600-99048800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr8:99043200-99047000	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr8:99043200-99047000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:99043200-99047200	Strong transcription	Dnd41	blood
40	chr8:99043400-99047000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr8:99043400-99048600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr8:99043600-99047200	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr8:99043600-99055400	Weak transcription	Esophagus	oesophagus
44	chr8:99043800-99047000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:99043800-99047000	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr8:99043800-99047200	Strong transcription	Fetal Intestine Large	intestine
47	chr8:99043800-99047200	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr8:99043800-99052400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr8:99044000-99047000	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr8:99044000-99047000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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