Variant report

Variant	rs11996861
Chromosome Location	chr8:67627906-67627907
allele	A/C
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:67623840..67628206-chr8:67684536..67689963,10	MCF-7	breast:
2	chr8:67625790..67629580-chr8:67694202..67697997,3	MCF-7	breast:
3	chr8:67379259..67381817-chr8:67625879..67628203,2	MCF-7	breast:
4	chr8:67625194..67627994-chr8:67835989..67838898,3	MCF-7	breast:
5	chr8:67341652..67343934-chr8:67627370..67629854,3	MCF-7	breast:
6	chr8:67574105..67581178-chr8:67622567..67628099,10	MCF-7	breast:
7	chr8:67578457..67580462-chr8:67626751..67628464,2	MCF-7	breast:
8	chr8:67624145..67628067-chr8:67684003..67690579,11	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000147576	Chromatin interaction
ENSG00000175073	Chromatin interaction
ENSG00000270024	Chromatin interaction
ENSG00000213865	Chromatin interaction
ENSG00000245910	Chromatin interaction
ENSG00000104205	Chromatin interaction

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10504393	1.00[CEU][hapmap]
rs11985572	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11986831	1.00[CEU][hapmap]
rs11987280	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11987310	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11987311	1.00[CEU][hapmap]
rs11988213	1.00[CEU][hapmap]
rs11990322	1.00[CEU][hapmap]
rs11990331	1.00[CEU][hapmap]
rs11990461	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs11990636	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11992069	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11992252	1.00[CEU][hapmap]
rs11993306	1.00[CEU][hapmap]
rs11993354	1.00[CEU][hapmap]
rs11995256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995814	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11997260	1.00[CEU][hapmap]
rs11997967	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11998194	1.00[CEU][hapmap]
rs11998301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12114734	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs16932983	1.00[CEU][hapmap]
rs16932985	1.00[CEU][hapmap]
rs16932996	1.00[CEU][hapmap]
rs16933013	1.00[CEU][hapmap]
rs16933026	1.00[CEU][hapmap]
rs16933032	1.00[CEU][hapmap]
rs16933034	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];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933036	1.00[CEU][hapmap]
rs16933039	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933060	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933065	1.00[CEU][hapmap]
rs16933071	1.00[CEU][hapmap]
rs16933079	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs16933080	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs16933092	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16933094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs16933097	1.00[CEU][hapmap]
rs2357998	1.00[CEU][hapmap]
rs2358000	1.00[CEU][hapmap]
rs28547325	0.84[ASN][1000 genomes]
rs35517376	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35809374	0.85[EUR][1000 genomes]
rs3779995	0.85[EUR][1000 genomes]
rs3808602	1.00[CEU][hapmap]
rs3824258	1.00[CEU][hapmap]
rs3857962	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3913346	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3929419	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073730	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4345540	1.00[CEU][hapmap]
rs4534119	1.00[CEU][hapmap]
rs4613982	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55893527	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56056216	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56215867	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56345609	0.95[EUR][1000 genomes]
rs57894537	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58434561	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58653469	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58991268	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59226286	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59469156	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60666237	0.85[EUR][1000 genomes]
rs60741740	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60773515	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61080934	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61085456	0.87[EUR][1000 genomes]
rs6472285	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472289	0.90[EUR][1000 genomes]
rs6651278	0.90[EUR][1000 genomes]
rs6981761	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982137	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982202	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6982699	0.85[EUR][1000 genomes]
rs6983632	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984447	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs6984650	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6985273	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs6986940	1.00[CEU][hapmap]
rs6987665	1.00[CEU][hapmap]
rs6998252	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998505	1.00[CEU][hapmap]
rs6998777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7002183	0.82[ASN][1000 genomes]
rs7002479	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7003548	1.00[CEU][hapmap]
rs7008740	1.00[CEU][hapmap]
rs7015619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7017471	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691557	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691562	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691565	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691571	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691572	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691578	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691579	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691582	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691586	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691595	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693615	0.85[EUR][1000 genomes]
rs73693631	0.90[EUR][1000 genomes]
rs73693632	0.90[EUR][1000 genomes]
rs7815142	0.90[EUR][1000 genomes]
rs7815863	0.85[EUR][1000 genomes]
rs7820403	0.90[EUR][1000 genomes]
rs7820420	1.00[JPT][hapmap]
rs7840192	1.00[CEU][hapmap]
rs7842770	0.85[EUR][1000 genomes]
rs979679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs9918866	1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes]
rs9918869	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv831346	chr8:67486555-67675324	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67625600-67640600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:67625600-67643600	Weak transcription	Gastric	stomach
3	chr8:67625800-67628800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:67625800-67650600	Weak transcription	Aorta	Aorta
5	chr8:67626200-67628000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr8:67626200-67628400	Weak transcription	K562	blood
7	chr8:67626200-67651200	Weak transcription	Right Ventricle	heart
8	chr8:67626200-67657600	Weak transcription	Lung	lung
9	chr8:67626200-67664400	Weak transcription	Ovary	ovary
10	chr8:67626200-67665200	Weak transcription	Fetal Stomach	stomach
11	chr8:67626400-67628000	Weak transcription	Primary B cells from peripheral blood	blood
12	chr8:67626400-67628000	Weak transcription	Brain Germinal Matrix	brain
13	chr8:67626400-67628200	Weak transcription	Dnd41	blood
14	chr8:67626400-67628400	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr8:67626400-67628400	Weak transcription	Thymus	Thymus
16	chr8:67626400-67628600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:67626400-67628600	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr8:67626400-67628600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:67626400-67628600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:67626400-67628600	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr8:67626400-67628800	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr8:67626400-67628800	Enhancers	HMEC	breast
23	chr8:67626400-67633200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr8:67626400-67633400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr8:67626400-67633600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr8:67626400-67639800	Weak transcription	Right Atrium	heart
27	chr8:67626600-67628800	Enhancers	NHEK	skin
28	chr8:67626600-67643800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr8:67626800-67628200	Enhancers	Brain Hippocampus Middle	brain
30	chr8:67626800-67628400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr8:67626800-67628600	Enhancers	Brain Cingulate Gyrus	brain
32	chr8:67626800-67629000	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr8:67626800-67632000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr8:67626800-67639400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr8:67626800-67660600	Weak transcription	HSMMtube	muscle
36	chr8:67627000-67628000	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr8:67627000-67628000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:67627000-67628000	Enhancers	Pancreas	Pancrea
39	chr8:67627000-67628000	Weak transcription	GM12878-XiMat	blood
40	chr8:67627000-67628000	Weak transcription	Osteobl	bone
41	chr8:67627000-67629000	Enhancers	Brain Anterior Caudate	brain
42	chr8:67627000-67632000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr8:67627000-67632600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr8:67627000-67638000	Weak transcription	Fetal Intestine Small	intestine
45	chr8:67627200-67628000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr8:67627200-67628000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr8:67627200-67628000	Weak transcription	Brain Angular Gyrus	brain
48	chr8:67627200-67628000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr8:67627200-67628000	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr8:67627200-67628400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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