Variant report

Variant	rs681333
Chromosome Location	chr11:86195013-86195014
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86194046..86196274-chr11:86514380..86517149,2	MCF-7	breast:
2	chr11:86193819..86197796-chr11:86209149..86211774,3	MCF-7	breast:
3	chr11:86194012..86196929-chr11:86208427..86212816,4	K562	blood:
4	chr11:86193697..86195389-chr11:86211197..86213851,2	MCF-7	breast:
5	chr11:86180136..86183089-chr11:86192134..86195122,2	MCF-7	breast:
6	chr11:86187209..86189140-chr11:86192637..86195160,2	MCF-7	breast:
7	chr11:86179427..86181701-chr11:86193017..86195846,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151376	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs2446225	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2446230	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2511083	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4944588	0.86[ASN][1000 genomes]
rs579719	0.85[ASN][1000 genomes]
rs582282	0.86[ASN][1000 genomes]
rs583594	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs584953	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs587362	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs590750	0.86[ASN][1000 genomes]
rs601646	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs610790	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs611730	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs614995	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs616794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs620054	0.84[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];0.90[ASN][1000 genomes]
rs631082	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs632873	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs633708	0.88[ASN][1000 genomes]
rs638492	0.91[ASN][1000 genomes]
rs641541	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs643414	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs647561	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs653715	0.93[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs658324	0.86[ASN][1000 genomes]
rs660372	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs661163	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs661328	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs663208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs664613	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs669325	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs676106	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs677301	0.87[ASN][1000 genomes]
rs677643	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs679977	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[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:76 , 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	chr11:86175400-86195400	Weak transcription	Brain Germinal Matrix	brain
8	chr11:86176600-86197000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:86181800-86208800	Weak transcription	Gastric	stomach
10	chr11:86186400-86197000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:86187600-86201200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:86187600-86218600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr11:86187800-86196000	Weak transcription	Fetal Brain Female	brain
14	chr11:86187800-86203200	Weak transcription	Fetal Heart	heart
15	chr11:86188000-86195800	Weak transcription	Fetal Intestine Large	intestine
16	chr11:86188000-86210400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr11:86188200-86195400	Weak transcription	Fetal Intestine Small	intestine
18	chr11:86189200-86197400	Weak transcription	Fetal Lung	lung
19	chr11:86189200-86222600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:86189400-86195600	Weak transcription	Fetal Kidney	kidney
21	chr11:86189400-86206400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:86189600-86195400	Weak transcription	Psoas Muscle	Psoas
23	chr11:86189600-86221600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr11:86191200-86197200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:86191600-86196600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:86191600-86196600	Enhancers	HSMMtube	muscle
27	chr11:86191600-86198000	Enhancers	HUVEC	blood vessel
28	chr11:86191800-86197000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:86191800-86197600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:86191800-86198400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:86192000-86198200	Enhancers	Fetal Muscle Leg	muscle
32	chr11:86192200-86196400	Enhancers	NHLF	lung
33	chr11:86192200-86197000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr11:86192200-86198600	Enhancers	NHDF-Ad	bronchial
35	chr11:86192200-86208400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr11:86192400-86197000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:86192400-86198400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:86192600-86196800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:86193400-86208600	Weak transcription	Brain Anterior Caudate	brain
40	chr11:86193600-86196600	Enhancers	Fetal Stomach	stomach
41	chr11:86194000-86196000	Enhancers	Colon Smooth Muscle	Colon
42	chr11:86194200-86195200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:86194200-86195200	Enhancers	Right Atrium	heart
44	chr11:86194200-86196400	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr11:86194200-86196400	Enhancers	NHEK	skin
46	chr11:86194200-86196800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:86194200-86196800	Enhancers	NH-A	brain
48	chr11:86194400-86195800	Enhancers	Fetal Muscle Trunk	muscle
49	chr11:86194400-86196400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr11:86194600-86196200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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