Variant report

Variant	rs7394448
Chromosome Location	chr11:16940134-16940135
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:16938600..16942869-chr11:16945668..16948073,6	MCF-7	breast:
2	chr11:16939336..16941584-chr11:16944195..16948360,3	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10832700	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11024083	1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs11824348	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12418493	1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs12708338	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12785711	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12787236	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12793275	0.88[ASN][1000 genomes]
rs12795133	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12802357	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12806040	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs34441025	0.88[ASN][1000 genomes]
rs34670733	1.00[ASN][1000 genomes]
rs34760218	1.00[ASN][1000 genomes]
rs35677666	1.00[ASN][1000 genomes]
rs35865759	0.88[ASN][1000 genomes]
rs6486322	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];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486323	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486324	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486325	1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs7123174	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs71484734	0.81[ASN][1000 genomes]
rs71484736	1.00[ASN][1000 genomes]
rs7394466	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7394865	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7395923	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7396550	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7926072	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7931313	0.88[ASN][1000 genomes]
rs7933299	1.00[JPT][hapmap]
rs7943517	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];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7944146	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7947201	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[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	nsv832077	chr11:16834545-17059176	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16927800-16944400	Weak transcription	A549	lung
2	chr11:16931400-16944200	Weak transcription	Esophagus	oesophagus
3	chr11:16934600-16941400	Weak transcription	Liver	Liver
4	chr11:16934600-16942200	Weak transcription	Ovary	ovary
5	chr11:16935200-16942200	Weak transcription	Left Ventricle	heart
6	chr11:16936800-16944400	Weak transcription	Right Atrium	heart
7	chr11:16936800-16944400	Weak transcription	Right Ventricle	heart
8	chr11:16938400-16943400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:16939000-16940800	Enhancers	Pancreas	Pancrea
10	chr11:16939000-16941000	Enhancers	NHEK	skin
11	chr11:16939000-16941200	Enhancers	Placenta	Placenta
12	chr11:16939000-16941400	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr11:16939000-16941600	Enhancers	Fetal Heart	heart
14	chr11:16939000-16941800	Enhancers	HMEC	breast
15	chr11:16939200-16940400	Enhancers	Fetal Intestine Small	intestine
16	chr11:16939200-16941000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:16939200-16941600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:16939200-16945000	Enhancers	Stomach Mucosa	stomach
19	chr11:16939200-16945400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr11:16939400-16940200	Enhancers	Fetal Intestine Large	intestine
21	chr11:16939400-16940800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:16939400-16941000	Enhancers	Placenta Amnion	Placenta Amnion
23	chr11:16939400-16944800	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr11:16939600-16940800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:16939800-16940200	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr11:16939800-16940200	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr11:16939800-16940600	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr11:16939800-16940600	Enhancers	Duodenum Mucosa	Duodenum
29	chr11:16939800-16941000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr11:16940000-16940400	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr11:16940000-16940600	Weak transcription	Colonic Mucosa	Colon
32	chr11:16940000-16941600	Weak transcription	Small Intestine	intestine
33	chr11:16940000-16944400	Weak transcription	Gastric	stomach

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