Variant report

Variant	rs941250
Chromosome Location	chr11:73730169-73730170
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73725519..73728147-chr11:73728778..73731606,2	MCF-7	breast:
2	chr11:73717415..73720390-chr11:73729515..73731625,2	MCF-7	breast:
3	chr11:73722854..73725770-chr11:73729182..73731305,3	K562	blood:
4	chr11:73721549..73725219-chr11:73728115..73731399,4	MCF-7	breast:
5	chr11:73692496..73695523-chr11:73726930..73730981,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175564	Chromatin interaction
ENSG00000175567	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1095419	1.00[EUR][1000 genomes]
rs1095420	1.00[EUR][1000 genomes]
rs1095428	1.00[EUR][1000 genomes]
rs12275089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12280063	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12287317	1.00[EUR][1000 genomes]
rs12291461	1.00[EUR][1000 genomes]
rs1320428	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1320429	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1612071	0.86[AMR][1000 genomes]
rs1617256	1.00[EUR][1000 genomes]
rs1618253	1.00[EUR][1000 genomes]
rs1618727	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1622307	1.00[EUR][1000 genomes]
rs1685337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1685343	1.00[EUR][1000 genomes]
rs1726753	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1726754	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1726757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1726758	1.00[EUR][1000 genomes]
rs1726760	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1726761	1.00[EUR][1000 genomes]
rs1726765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1726767	0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1726768	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36207715	1.00[EUR][1000 genomes]
rs699140	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs699141	1.00[EUR][1000 genomes]
rs7123549	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs826032	1.00[EUR][1000 genomes]
rs826034	1.00[EUR][1000 genomes]
rs826036	1.00[EUR][1000 genomes]
rs826037	1.00[EUR][1000 genomes]
rs826040	1.00[EUR][1000 genomes]
rs826041	1.00[EUR][1000 genomes]
rs826043	1.00[EUR][1000 genomes]
rs826045	1.00[EUR][1000 genomes]
rs826047	1.00[EUR][1000 genomes]
rs826052	1.00[EUR][1000 genomes]
rs826063	1.00[EUR][1000 genomes]
rs826065	1.00[EUR][1000 genomes]
rs826070	1.00[EUR][1000 genomes]
rs826080	0.95[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs826086	1.00[EUR][1000 genomes]
rs826088	1.00[EUR][1000 genomes]
rs826091	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs861144	1.00[EUR][1000 genomes]
rs941253	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][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	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv976527	chr11:73728292-73738902	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73710600-73741800	Weak transcription	Fetal Kidney	kidney
2	chr11:73710600-73748800	Weak transcription	Fetal Brain Male	brain
3	chr11:73712200-73743600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:73712200-73743800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr11:73712800-73743400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr11:73720000-73743400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:73721200-73731600	Strong transcription	Fetal Brain Female	brain
8	chr11:73721600-73731400	Strong transcription	Brain Germinal Matrix	brain
9	chr11:73721800-73730400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:73721800-73743000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr11:73722000-73744000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr11:73722200-73767200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr11:73722400-73731600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:73724800-73746800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:73725200-73736400	Weak transcription	NHEK	skin
16	chr11:73725400-73740200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr11:73726200-73731400	Strong transcription	Thymus	Thymus
18	chr11:73727200-73732200	Enhancers	Stomach Mucosa	stomach
19	chr11:73727400-73730600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:73727400-73731800	Enhancers	Right Atrium	heart
21	chr11:73727800-73730400	Weak transcription	HSMM	muscle
22	chr11:73728000-73732200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr11:73728000-73741200	Weak transcription	Aorta	Aorta
24	chr11:73728000-73755000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:73728200-73731800	Enhancers	Right Ventricle	heart
26	chr11:73728400-73731400	Enhancers	Colon Smooth Muscle	Colon
27	chr11:73728400-73738400	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr11:73728600-73730800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr11:73728600-73730800	Enhancers	Fetal Heart	heart
30	chr11:73728600-73731400	Enhancers	Pancreas	Pancrea
31	chr11:73728600-73731600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:73728600-73731800	Enhancers	Psoas Muscle	Psoas
33	chr11:73728600-73738600	Weak transcription	Dnd41	blood
34	chr11:73728800-73731200	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr11:73728800-73731400	Enhancers	Brain Substantia Nigra	brain
36	chr11:73728800-73731600	Enhancers	Liver	Liver
37	chr11:73728800-73731800	Enhancers	Left Ventricle	heart
38	chr11:73728800-73732000	Enhancers	Small Intestine	intestine
39	chr11:73728800-73734600	Genic enhancers	Placenta	Placenta
40	chr11:73728800-73736800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:73729000-73730200	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr11:73729000-73730400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr11:73729000-73730600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr11:73729000-73730800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:73729000-73731000	Enhancers	Gastric	stomach
46	chr11:73729000-73731200	Enhancers	Brain Anterior Caudate	brain
47	chr11:73729000-73731200	Enhancers	Fetal Intestine Large	intestine
48	chr11:73729000-73731400	Enhancers	Brain Angular Gyrus	brain
49	chr11:73729000-73731400	Genic enhancers	Fetal Muscle Leg	muscle
50	chr11:73729000-73731600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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