Variant report

Variant	rs584953
Chromosome Location	chr11:86185977-86185978
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86185108..86187955-chr11:86510499..86513131,2	MCF-7	breast:
2	chr11:86178752..86182800-chr11:86185085..86187353,3	MCF-7	breast:
3	chr11:86177770..86180382-chr11:86184781..86186333,2	K562	blood:
4	chr11:86185920..86188742-chr11:86196179..86198154,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150687	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10898483	0.80[CHB][hapmap]
rs1458383	0.84[ASN][1000 genomes]
rs2446224	0.95[CHB][hapmap];0.88[ASN][1000 genomes]
rs2446225	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2446230	0.92[CEU][hapmap];0.90[CHB][hapmap]
rs2511082	0.95[CHB][hapmap];0.87[ASN][1000 genomes]
rs2511083	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs579719	0.90[CHB][hapmap]
rs582282	0.90[CHB][hapmap]
rs583594	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs587362	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs601646	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs610476	0.88[ASN][1000 genomes]
rs610790	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs611730	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs614995	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];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs616794	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs621653	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs630454	0.87[ASN][1000 genomes]
rs631082	0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs632873	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs638492	0.90[CHB][hapmap]
rs641541	0.88[CEU][hapmap];0.90[CHB][hapmap]
rs643414	0.83[ASN][1000 genomes]
rs647561	0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs653715	0.95[CHB][hapmap];0.85[ASN][1000 genomes]
rs658324	0.90[CHB][hapmap]
rs660372	0.92[CEU][hapmap];0.90[CHB][hapmap]
rs661163	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs661328	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs663208	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs664613	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs669325	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs675775	0.95[CHB][hapmap];0.86[ASN][1000 genomes]
rs676106	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs677301	0.90[CHB][hapmap]
rs677643	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs679977	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs681333	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs683899	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86153200-86187000	Weak transcription	Fetal Kidney	kidney
2	chr11:86158600-86187200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr11:86159600-86196800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr11:86160200-86221000	Weak transcription	Primary T cells from cord blood	blood
5	chr11:86170200-86187200	Weak transcription	Stomach Mucosa	stomach
6	chr11:86171200-86197800	Weak transcription	Esophagus	oesophagus
7	chr11:86171800-86187200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr11:86171800-86188800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:86172200-86208200	Weak transcription	Pancreas	Pancrea
10	chr11:86172400-86192800	Weak transcription	Brain Anterior Caudate	brain
11	chr11:86172400-86208400	Weak transcription	Brain Angular Gyrus	brain
12	chr11:86172400-86227000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr11:86172600-86187200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr11:86172600-86194800	Weak transcription	Brain Hippocampus Middle	brain
15	chr11:86172800-86188800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:86174600-86187200	Weak transcription	Fetal Intestine Small	intestine
17	chr11:86174600-86187200	Weak transcription	Fetal Stomach	stomach
18	chr11:86174600-86188800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:86175400-86195400	Weak transcription	Brain Germinal Matrix	brain
20	chr11:86176200-86187200	Weak transcription	Fetal Brain Female	brain
21	chr11:86176600-86197000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:86176800-86187200	Weak transcription	Aorta	Aorta
23	chr11:86176800-86188600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr11:86178800-86187200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:86181000-86187200	Weak transcription	Psoas Muscle	Psoas
26	chr11:86181200-86186400	Weak transcription	Fetal Muscle Leg	muscle
27	chr11:86181600-86187000	Weak transcription	Fetal Lung	lung
28	chr11:86181800-86208800	Weak transcription	Gastric	stomach
29	chr11:86183000-86186600	Weak transcription	HepG2	liver
30	chr11:86183600-86186400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:86183800-86189600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr11:86184000-86186400	Enhancers	Left Ventricle	heart
33	chr11:86184000-86188200	Enhancers	Right Atrium	heart
34	chr11:86184400-86187600	Weak transcription	Fetal Heart	heart
35	chr11:86184400-86190000	Enhancers	Stomach Smooth Muscle	stomach
36	chr11:86184800-86186000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:86184800-86186000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:86184800-86186000	Enhancers	HMEC	breast
39	chr11:86184800-86186400	Enhancers	Right Ventricle	heart
40	chr11:86184800-86188600	Enhancers	HUVEC	blood vessel
41	chr11:86184800-86189600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:86184800-86190600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:86185000-86186400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:86185000-86186400	Enhancers	Ovary	ovary
45	chr11:86185000-86188600	Weak transcription	K562	blood
46	chr11:86185200-86186000	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr11:86185200-86186200	Genic enhancers	A549	lung
48	chr11:86185200-86187200	Weak transcription	HSMMtube	muscle
49	chr11:86185200-86191600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr11:86185400-86186800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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