Variant report

Variant	rs616794
Chromosome Location	chr11:86196361-86196362
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:86193819..86197796-chr11:86209149..86211774,3	MCF-7	breast:
2	chr11:86196082..86198176-chr11:86220436..86222457,2	MCF-7	breast:
3	chr11:86194012..86196929-chr11:86208427..86212816,4	K562	blood:
4	chr11:86195419..86198314-chr11:86202318..86204209,2	K562	blood:
5	chr11:45825345..45827365-chr11:86195201..86197810,2	MCF-7	breast:
6	chr11:86185920..86188742-chr11:86196179..86198154,2	MCF-7	breast:
7	chr11:86169610..86171633-chr11:86195084..86198492,3	MCF-7	breast:
8	chr11:86195503..86197449-chr11:86509855..86511588,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000181830	Chromatin interaction
ENSG00000151376	Chromatin interaction
ENSG00000150687	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10792854	0.80[YRI][hapmap]
rs11234691	0.95[JPT][hapmap]
rs2446224	0.95[CHB][hapmap]
rs2446225	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2446230	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2511082	0.95[CHB][hapmap]
rs2511083	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3741004	0.80[YRI][hapmap]
rs4412777	0.80[YRI][hapmap]
rs4944588	0.86[ASN][1000 genomes]
rs579719	0.95[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs582282	0.95[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs583594	1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs584953	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs587362	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs590750	0.86[ASN][1000 genomes]
rs601646	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs610790	0.92[CEU][hapmap];0.95[CHB][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs611730	0.92[CEU][hapmap];0.95[CHB][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs614995	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs620054	0.83[ASN][1000 genomes]
rs621653	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs630454	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs631082	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs632873	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs633708	0.86[ASN][1000 genomes]
rs638492	0.95[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs641541	0.92[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs643414	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs647561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs653715	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs658324	0.95[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs6592295	0.83[YRI][hapmap]
rs660372	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs661163	0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs661328	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs663208	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs664613	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs669325	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.97[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs675775	0.95[CHB][hapmap]
rs676106	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs677301	0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs677643	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs679977	0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs681333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs683899	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[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	chr11:86159600-86196800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr11:86160200-86221000	Weak transcription	Primary T cells from cord blood	blood
3	chr11:86171200-86197800	Weak transcription	Esophagus	oesophagus
4	chr11:86172200-86208200	Weak transcription	Pancreas	Pancrea
5	chr11:86172400-86208400	Weak transcription	Brain Angular Gyrus	brain
6	chr11:86172400-86227000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr11:86176600-86197000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:86181800-86208800	Weak transcription	Gastric	stomach
9	chr11:86186400-86197000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:86187600-86201200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:86187600-86218600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr11:86187800-86203200	Weak transcription	Fetal Heart	heart
13	chr11:86188000-86210400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr11:86189200-86197400	Weak transcription	Fetal Lung	lung
15	chr11:86189200-86222600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:86189400-86206400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:86189600-86221600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr11:86191200-86197200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:86191600-86196600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:86191600-86196600	Enhancers	HSMMtube	muscle
21	chr11:86191600-86198000	Enhancers	HUVEC	blood vessel
22	chr11:86191800-86197000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:86191800-86197600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:86191800-86198400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:86192000-86198200	Enhancers	Fetal Muscle Leg	muscle
26	chr11:86192200-86196400	Enhancers	NHLF	lung
27	chr11:86192200-86197000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr11:86192200-86198600	Enhancers	NHDF-Ad	bronchial
29	chr11:86192200-86208400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr11:86192400-86197000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:86192400-86198400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:86192600-86196800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:86193400-86208600	Weak transcription	Brain Anterior Caudate	brain
34	chr11:86193600-86196600	Enhancers	Fetal Stomach	stomach
35	chr11:86194200-86196400	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr11:86194200-86196400	Enhancers	NHEK	skin
37	chr11:86194200-86196800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr11:86194200-86196800	Enhancers	NH-A	brain
39	chr11:86194400-86196400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr11:86194600-86196600	Enhancers	Osteobl	bone
41	chr11:86194800-86196400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr11:86194800-86196600	Enhancers	Adipose Nuclei	Adipose
43	chr11:86194800-86196600	Enhancers	Ovary	ovary
44	chr11:86194800-86196600	Enhancers	Stomach Smooth Muscle	stomach
45	chr11:86194800-86196600	Enhancers	HMEC	breast
46	chr11:86194800-86198000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr11:86195000-86197000	Enhancers	HepG2	liver
48	chr11:86195000-86203200	Enhancers	Fetal Brain Male	brain
49	chr11:86195200-86196600	Enhancers	HSMM	muscle
50	chr11:86195200-86196800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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