Variant report

Variant	rs7116594
Chromosome Location	chr11:72984870-72984871
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	chr11:72905564..72908217-chr11:72984750..72988310,3	MCF-7	breast:
2	chr11:72984275..72986259-chr11:72992888..72994814,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10898913	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10898914	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10898915	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235699	1.00[JPT][hapmap]
rs11235701	0.95[ASN][1000 genomes]
rs11235703	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235705	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235706	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235708	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235709	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235710	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235711	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235712	0.81[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235713	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12276627	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12363628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12787775	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12790447	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12790863	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12794405	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12801084	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12808111	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894075	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28513476	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34023835	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34385073	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35455220	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35963948	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4432047	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592517	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67897720	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7103650	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7106903	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7114877	0.95[ASN][1000 genomes]
rs7123808	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127013	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127179	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127705	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127940	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7925649	1.00[JPT][hapmap]
rs7930891	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7942649	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs882904	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9988805	1.00[JPT][hapmap]

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	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72977200-72991600	Weak transcription	Osteobl	bone
2	chr11:72978000-72986000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:72980400-72987200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr11:72980400-72998400	Weak transcription	Right Atrium	heart
5	chr11:72981200-72985600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr11:72981200-72985600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:72981200-72991000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:72982600-72986000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr11:72982800-72986000	Flanking Active TSS	A549	lung
10	chr11:72982800-72986400	Enhancers	HSMMtube	muscle
11	chr11:72983000-72985400	Flanking Active TSS	Placenta	Placenta
12	chr11:72983000-72986000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr11:72983400-72985200	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
14	chr11:72983400-72985200	Flanking Active TSS	Fetal Intestine Large	intestine
15	chr11:72983400-72986200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:72983400-72986200	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr11:72983400-72994600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:72983600-72985400	Bivalent Enhancer	HepG2	liver
19	chr11:72983600-72986000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:72983600-72986400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:72983600-72986400	Weak transcription	NHEK	skin
22	chr11:72983600-72986600	Active TSS	Duodenum Mucosa	Duodenum
23	chr11:72983600-72994200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:72983800-72985200	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr11:72983800-72985600	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr11:72983800-72985600	Weak transcription	GM12878-XiMat	blood
27	chr11:72983800-72986200	Weak transcription	Esophagus	oesophagus
28	chr11:72983800-72988600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr11:72984000-72985000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:72984000-72985800	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr11:72984000-72986000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr11:72984000-72986000	Weak transcription	Spleen	Spleen
33	chr11:72984200-72985200	Flanking Active TSS	Fetal Muscle Leg	muscle
34	chr11:72984200-72986400	Enhancers	Fetal Muscle Trunk	muscle
35	chr11:72984400-72985000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:72984400-72985000	Enhancers	Colon Smooth Muscle	Colon
37	chr11:72984400-72985000	Enhancers	Fetal Lung	lung
38	chr11:72984400-72985000	Enhancers	Stomach Smooth Muscle	stomach
39	chr11:72984600-72985000	Flanking Active TSS	Fetal Intestine Small	intestine
40	chr11:72984600-72985000	Active TSS	Fetal Thymus	thymus
41	chr11:72984600-72986800	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr11:72984600-73000000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:72984800-72985000	Enhancers	Small Intestine	intestine
44	chr11:72984800-72985600	Weak transcription	Adipose Nuclei	Adipose
45	chr11:72984800-72985800	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr11:72984800-72985800	Weak transcription	Psoas Muscle	Psoas

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