Variant report

Variant	rs949351
Chromosome Location	chr11:86290278-86290279
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:86288370..86290389-chr11:86296721..86299519,2	MCF-7	breast:
2	chr11:86288660..86290609-chr11:86318150..86319919,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11234699	0.81[EUR][1000 genomes]
rs11234700	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11234701	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11234702	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1945137	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1945138	0.81[AMR][1000 genomes]
rs1945139	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1945144	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1945145	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7117143	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7117702	0.96[CEU][hapmap];0.83[CHB][hapmap];0.85[CHD][hapmap];0.86[GIH][hapmap];0.98[MKK][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7938505	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv898056	chr11:86156848-86304402	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv555665	chr11:86230898-86417553	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv1808984	chr11:86282680-86301717	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv555677	chr11:86285994-86291818	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv555678	chr11:86285994-86305977	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv555684	chr11:86286341-86291818	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86271000-86291200	Weak transcription	Gastric	stomach
2	chr11:86275400-86299400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr11:86276400-86299800	Weak transcription	Fetal Brain Male	brain
4	chr11:86285600-86290600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr11:86286000-86299400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:86286400-86298200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr11:86287200-86292000	Enhancers	Right Ventricle	heart
8	chr11:86287400-86291400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:86287400-86291400	Enhancers	Left Ventricle	heart
10	chr11:86287400-86292000	Enhancers	Ovary	ovary
11	chr11:86287600-86291200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:86287600-86291800	Enhancers	Colon Smooth Muscle	Colon
13	chr11:86287600-86293400	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr11:86288000-86291400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr11:86288200-86290800	Enhancers	Fetal Muscle Leg	muscle
16	chr11:86288400-86290800	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr11:86288600-86293400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:86288600-86293800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:86288800-86290600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr11:86288800-86290600	Enhancers	NHLF	lung
21	chr11:86289000-86290600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:86289000-86290600	Enhancers	HSMMtube	muscle
23	chr11:86289000-86290800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:86289000-86290800	Enhancers	HMEC	breast
25	chr11:86289000-86290800	Enhancers	NHEK	skin
26	chr11:86289200-86290400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr11:86289200-86290600	Enhancers	Colonic Mucosa	Colon
28	chr11:86289200-86290600	Enhancers	Lung	lung
29	chr11:86289200-86290800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:86289200-86292000	Enhancers	Pancreas	Pancrea
31	chr11:86289200-86292000	Enhancers	Right Atrium	heart
32	chr11:86289200-86292200	Enhancers	Fetal Intestine Large	intestine
33	chr11:86289400-86290400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:86289400-86290400	Enhancers	Aorta	Aorta
35	chr11:86289400-86290600	Enhancers	Brain Angular Gyrus	brain
36	chr11:86289400-86290600	Enhancers	Esophagus	oesophagus
37	chr11:86289400-86290600	Enhancers	Psoas Muscle	Psoas
38	chr11:86289400-86290800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:86289600-86290400	Weak transcription	Fetal Intestine Small	intestine
40	chr11:86289600-86290600	Enhancers	Muscle Satellite Cultured Cells	--
41	chr11:86289600-86290800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:86289600-86291000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:86289600-86291200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:86289600-86291400	Enhancers	HUVEC	blood vessel
45	chr11:86289800-86290600	Enhancers	HSMM	muscle
46	chr11:86289800-86290600	Enhancers	NHDF-Ad	bronchial
47	chr11:86289800-86291000	Weak transcription	Fetal Kidney	kidney
48	chr11:86289800-86291200	Weak transcription	Fetal Lung	lung
49	chr11:86289800-86291200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr11:86289800-86291600	Weak transcription	Fetal Stomach	stomach

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