Variant report

Variant	rs11988518
Chromosome Location	chr8:107730711-107730712
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	chr8:107727853..107731882-chr8:107733080..107735284,3	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11996457	0.95[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11996466	0.83[YRI][hapmap]
rs12056528	0.83[ASN][1000 genomes]
rs12675956	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs12676199	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12681427	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12681916	0.87[ASN][1000 genomes]
rs1542644	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1954790	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2126579	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2881423	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3101531	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs3101532	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3101533	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3101534	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3101538	0.94[ASW][hapmap];0.86[CEU][hapmap];0.84[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.83[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3101539	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3102431	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3102432	0.83[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3102434	0.89[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3110429	0.84[ASN][1000 genomes]
rs3132806	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3132807	0.95[CEU][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3134127	0.89[ASN][1000 genomes]
rs3134129	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6469077	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6983111	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6983210	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs7000202	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7817274	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831419	chr8:107624709-107827801	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107679200-107738200	Weak transcription	Right Ventricle	heart
2	chr8:107692000-107738400	Weak transcription	Colon Smooth Muscle	Colon
3	chr8:107694600-107738000	Weak transcription	Fetal Heart	heart
4	chr8:107696000-107737200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:107698200-107731000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr8:107707800-107737800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr8:107710400-107735600	Weak transcription	Fetal Intestine Small	intestine
8	chr8:107710400-107738200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:107710400-107755400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:107711800-107738200	Weak transcription	Brain Angular Gyrus	brain
11	chr8:107717200-107737200	Weak transcription	Brain Hippocampus Middle	brain
12	chr8:107719000-107738200	Weak transcription	NHEK	skin
13	chr8:107719200-107742400	Weak transcription	Stomach Mucosa	stomach
14	chr8:107719600-107731000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr8:107719600-107732400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:107719600-107737000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr8:107719600-107737400	Weak transcription	Psoas Muscle	Psoas
18	chr8:107719600-107738000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:107719600-107738200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:107719600-107738400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr8:107719600-107739600	Weak transcription	Left Ventricle	heart
22	chr8:107719600-107762400	Weak transcription	Lung	lung
23	chr8:107719600-107765600	Weak transcription	Colonic Mucosa	Colon
24	chr8:107719600-107775200	Weak transcription	Gastric	stomach
25	chr8:107719600-107777800	Weak transcription	Esophagus	oesophagus
26	chr8:107719800-107731200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr8:107719800-107738200	Weak transcription	Ovary	ovary
28	chr8:107719800-107753800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr8:107720000-107732400	Weak transcription	HepG2	liver
30	chr8:107720000-107738200	Weak transcription	HMEC	breast
31	chr8:107720600-107738200	Weak transcription	Aorta	Aorta
32	chr8:107720600-107738200	Weak transcription	Fetal Stomach	stomach
33	chr8:107720600-107738400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr8:107720800-107736000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr8:107721200-107738200	Weak transcription	Fetal Muscle Trunk	muscle
36	chr8:107723200-107738000	Weak transcription	K562	blood
37	chr8:107724000-107732600	Weak transcription	Osteobl	bone
38	chr8:107724000-107737200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:107724000-107738000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr8:107724200-107731000	Weak transcription	Primary T cells from cord blood	blood
41	chr8:107724200-107731000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr8:107724200-107731000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr8:107724200-107731000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr8:107724200-107732400	Weak transcription	Fetal Kidney	kidney
45	chr8:107724200-107736000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr8:107724200-107736800	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr8:107724200-107738200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr8:107724200-107738200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr8:107724200-107738200	Weak transcription	Fetal Thymus	thymus
50	chr8:107724200-107738200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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