Variant report

Variant	rs11820985
Chromosome Location	chr11:57200414-57200415
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57200184..57202018-chr11:57220171..57222955,2	MCF-7	breast:
2	chr11:57199504..57201298-chr11:57434003..57435774,2	K562	blood:

Variant related genes	Relation type
ENSG00000156599	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11229028	0.96[ASN][1000 genomes]
rs11822095	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11822910	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11827928	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11828218	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12422015	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12788236	0.81[ASN][1000 genomes]
rs2250887	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2439448	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2581924	0.89[ASN][1000 genomes]
rs2581928	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2584858	0.85[ASN][1000 genomes]
rs2729389	1.00[CHB][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs4477456	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4529894	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60961847	0.91[ASN][1000 genomes]
rs61886978	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7106223	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7122734	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[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	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57195000-57201800	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr11:57195000-57202400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr11:57195600-57202400	Weak transcription	Pancreas	Pancrea
4	chr11:57195800-57202000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr11:57195800-57202000	Weak transcription	NHEK	skin
6	chr11:57195800-57202400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr11:57195800-57202400	Weak transcription	Esophagus	oesophagus
8	chr11:57196000-57201800	Weak transcription	Colon Smooth Muscle	Colon
9	chr11:57197000-57203000	Enhancers	HepG2	liver
10	chr11:57197400-57201600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr11:57197600-57200800	Weak transcription	Hela-S3	cervix
12	chr11:57198200-57200600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:57198200-57201000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:57198200-57201800	Enhancers	A549	lung
15	chr11:57198200-57202800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:57198400-57200600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:57198400-57203000	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr11:57198600-57202600	Weak transcription	Right Atrium	heart
19	chr11:57199000-57200600	Enhancers	Brain Hippocampus Middle	brain
20	chr11:57199200-57200800	Enhancers	GM12878-XiMat	blood
21	chr11:57199200-57201800	Enhancers	Primary hematopoietic stem cells	blood
22	chr11:57199200-57203800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:57199400-57202800	Enhancers	Adipose Nuclei	Adipose
24	chr11:57199400-57203000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:57199400-57203000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:57199400-57203000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:57199400-57203000	Enhancers	Osteobl	bone
28	chr11:57199600-57203000	Enhancers	HMEC	breast
29	chr11:57199600-57203000	Enhancers	NHDF-Ad	bronchial
30	chr11:57199800-57200800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr11:57199800-57200800	Weak transcription	Liver	Liver
32	chr11:57199800-57203000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:57199800-57203000	Enhancers	NHLF	lung
34	chr11:57200000-57200600	Enhancers	HSMM	muscle
35	chr11:57200000-57200800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:57200000-57202000	Enhancers	NH-A	brain
37	chr11:57200000-57205600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr11:57200200-57200600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:57200200-57200600	Enhancers	Placenta	Placenta
40	chr11:57200200-57200800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:57200200-57201400	Weak transcription	Fetal Lung	lung
42	chr11:57200400-57201200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:57200400-57201600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr11:57200400-57201800	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr11:57200400-57202400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr11:57200400-57202600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr11:57200400-57202800	Enhancers	K562	blood
48	chr11:57200400-57203000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:57200400-57203000	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr11:57200400-57203000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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