Variant report

Variant	rs11996871
Chromosome Location	chr8:102593462-102593463
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:102592230..102595916-chr8:103666218..103670162,3	MCF-7	breast:
2	chr8:102590095..102591654-chr8:102593333..102595255,2	MCF-7	breast:
3	chr8:102593460..102597757-chr8:102598202..102602881,7	MCF-7	breast:
4	chr8:102588119..102597900-chr8:102614552..102624670,18	MCF-7	breast:
5	chr8:102590604..102593500-chr8:102619061..102620861,2	MCF-7	breast:
6	chr8:102574170..102577190-chr8:102593117..102596726,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253153	Chromatin interaction
ENSG00000155090	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10955258	0.80[MKK][hapmap];0.82[YRI][hapmap]
rs11996495	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16867834	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16867848	0.85[JPT][hapmap]
rs35333368	0.95[ASN][1000 genomes]
rs57874832	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73701931	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73701932	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[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	nsv891230	chr8:102569309-102604306	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102552200-102620600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:102583800-102596800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr8:102585600-102595800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:102587000-102594600	Weak transcription	Fetal Stomach	stomach
5	chr8:102587000-102597000	Weak transcription	Colonic Mucosa	Colon
6	chr8:102587400-102597000	Weak transcription	Lung	lung
7	chr8:102588400-102594000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr8:102588600-102595400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr8:102588800-102595800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:102589000-102595800	Strong transcription	NHEK	skin
11	chr8:102589200-102599400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:102589400-102594000	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr8:102589400-102594600	Strong transcription	Placenta	Placenta
14	chr8:102589600-102599800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:102590000-102595600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr8:102590400-102594800	Weak transcription	Pancreas	Pancrea
17	chr8:102590400-102597000	Weak transcription	Fetal Brain Male	brain
18	chr8:102590400-102603400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr8:102590600-102594600	Weak transcription	Esophagus	oesophagus
20	chr8:102590600-102598600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr8:102590600-102631600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr8:102590600-102635200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr8:102590800-102593600	Weak transcription	HMEC	breast
24	chr8:102590800-102595400	Weak transcription	Gastric	stomach
25	chr8:102590800-102596000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr8:102591200-102595200	Weak transcription	Liver	Liver
27	chr8:102591800-102593800	Weak transcription	Stomach Mucosa	stomach
28	chr8:102592000-102595000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:102592000-102595200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr8:102592000-102611000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr8:102592200-102593600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr8:102592200-102596800	Weak transcription	Left Ventricle	heart
33	chr8:102592200-102597800	Weak transcription	Fetal Heart	heart
34	chr8:102592600-102594000	Strong transcription	Fetal Intestine Large	intestine
35	chr8:102593000-102598800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr8:102593200-102593800	Enhancers	Colon Smooth Muscle	Colon
37	chr8:102593400-102594000	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr8:102593400-102594200	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr8:102593400-102594200	Strong transcription	Duodenum Mucosa	Duodenum
40	chr8:102593400-102597000	Weak transcription	Fetal Intestine Small	intestine

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