Variant report

Variant	rs4594010
Chromosome Location	chr11:120935558-120935559
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120933457..120936231-chr11:120943886..120945409,2	MCF-7	breast:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10502245	0.94[ASN][1000 genomes]
rs10892662	0.88[ASN][1000 genomes]
rs10892663	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10892664	0.88[ASN][1000 genomes]
rs10892665	0.94[ASN][1000 genomes]
rs10892666	0.96[ASN][1000 genomes]
rs10892667	0.95[ASN][1000 genomes]
rs10892668	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10892669	0.96[ASN][1000 genomes]
rs10892670	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11218115	0.85[ASN][1000 genomes]
rs11218118	0.88[ASN][1000 genomes]
rs11218120	0.88[ASN][1000 genomes]
rs11218121	0.88[ASN][1000 genomes]
rs11218122	0.89[ASN][1000 genomes]
rs11218123	0.89[ASN][1000 genomes]
rs11218125	0.91[ASN][1000 genomes]
rs11218126	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11218127	0.94[ASN][1000 genomes]
rs11218128	0.93[ASN][1000 genomes]
rs11218135	0.94[ASN][1000 genomes]
rs11218137	0.94[ASN][1000 genomes]
rs11218139	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11218140	0.91[ASN][1000 genomes]
rs12225989	0.95[ASN][1000 genomes]
rs12226639	0.93[ASN][1000 genomes]
rs12274032	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12274094	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12283211	0.88[ASN][1000 genomes]
rs12576572	0.90[ASN][1000 genomes]
rs12576574	0.88[ASN][1000 genomes]
rs12576758	0.88[ASN][1000 genomes]
rs12576759	0.88[ASN][1000 genomes]
rs12577611	0.88[ASN][1000 genomes]
rs17124739	0.94[ASN][1000 genomes]
rs17124764	0.93[ASN][1000 genomes]
rs1939004	0.91[ASN][1000 genomes]
rs2000525	0.89[ASN][1000 genomes]
rs2000526	0.89[ASN][1000 genomes]
rs2000527	0.90[ASN][1000 genomes]
rs2000528	0.90[ASN][1000 genomes]
rs2186601	0.93[ASN][1000 genomes]
rs2298491	0.93[ASN][1000 genomes]
rs34929374	0.81[ASN][1000 genomes]
rs3758891	0.93[ASN][1000 genomes]
rs3824976	0.86[ASN][1000 genomes]
rs4396299	0.96[ASN][1000 genomes]
rs56675723	0.96[ASN][1000 genomes]
rs57401958	0.94[ASN][1000 genomes]
rs57826163	0.95[ASN][1000 genomes]
rs58204590	0.94[ASN][1000 genomes]
rs61903185	0.90[ASN][1000 genomes]
rs6589854	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6589855	0.92[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6589856	0.93[ASN][1000 genomes]
rs67932968	0.95[ASN][1000 genomes]
rs68097814	0.88[ASN][1000 genomes]
rs7122879	0.89[ASN][1000 genomes]
rs7478744	0.93[ASN][1000 genomes]
rs7927356	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7928550	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7931603	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7940619	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7947565	0.93[ASN][1000 genomes]
rs7952619	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[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	nsv1046688	chr11:120894391-120956305	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1039908	chr11:120904893-120936907	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120896000-120938600	Weak transcription	Lung	lung
2	chr11:120896200-120959600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr11:120896600-120938200	Weak transcription	Fetal Stomach	stomach
4	chr11:120898800-120938400	Weak transcription	Aorta	Aorta
5	chr11:120900800-120949800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr11:120905800-120941600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr11:120909000-120956400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:120910000-120966600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr11:120910200-120938200	Weak transcription	Small Intestine	intestine
10	chr11:120910200-120939600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:120911200-120939600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:120911200-120957400	Weak transcription	Thymus	Thymus
13	chr11:120911200-120961200	Weak transcription	Spleen	Spleen
14	chr11:120914000-120948400	Weak transcription	Fetal Heart	heart
15	chr11:120915400-120950200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr11:120915600-120941200	Strong transcription	Primary T cells from cord blood	blood
17	chr11:120915800-120940000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:120916200-120939400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:120916400-120940600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:120916600-120940200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:120916800-120941000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr11:120916800-120942400	Weak transcription	Esophagus	oesophagus
23	chr11:120918000-120938200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:120918400-120942600	Weak transcription	Gastric	stomach
25	chr11:120919800-120936000	Weak transcription	Fetal Intestine Small	intestine
26	chr11:120920000-120942000	Weak transcription	Stomach Mucosa	stomach
27	chr11:120920400-120942400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr11:120922200-120937000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr11:120922200-120937000	Strong transcription	HSMM	muscle
30	chr11:120922200-120937400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:120922200-120940600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:120922200-120940600	Strong transcription	Adipose Nuclei	Adipose
33	chr11:120922200-120940800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:120922400-120936800	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr11:120922600-120940600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:120922800-120938800	Weak transcription	Colonic Mucosa	Colon
37	chr11:120923800-120937000	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr11:120924600-120942600	Weak transcription	Pancreas	Pancrea
39	chr11:120924600-120942800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr11:120925200-120957400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr11:120925200-120960000	Weak transcription	Right Ventricle	heart
42	chr11:120925200-120962400	Weak transcription	Psoas Muscle	Psoas
43	chr11:120925400-120953400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr11:120926000-120942200	Weak transcription	Colon Smooth Muscle	Colon
45	chr11:120926000-120949400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr11:120926000-120956600	Weak transcription	NHLF	lung
47	chr11:120926200-120942000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:120926200-120942200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr11:120926200-120950200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr11:120926200-120966200	Weak transcription	NHEK	skin

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