Variant report

Variant	rs2252227
Chromosome Location	chr11:120419020-120419021
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120416706..120419405-chr11:120427869..120430423,2	K562	blood:
2	chr11:120381768..120382394-chr11:120418781..120419873,3	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2248558	0.87[AMR][1000 genomes]
rs2252233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2252249	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2252373	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2266102	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2510879	0.81[AMR][1000 genomes]
rs60832118	0.87[AMR][1000 genomes]
rs6589815	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1051115	chr11:120376808-120446434	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1036388	chr11:120395104-120427135	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1054301	chr11:120396485-120465800	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1035499	chr11:120398643-120446434	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1049494	chr11:120400115-120453381	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1052932	chr11:120406628-120442955	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120414600-120419200	Enhancers	Primary B cells from peripheral blood	blood
2	chr11:120415400-120419200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr11:120415800-120420800	Enhancers	Fetal Lung	lung
4	chr11:120416400-120421600	Enhancers	Ovary	ovary
5	chr11:120416400-120422200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr11:120416600-120419200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:120416600-120419800	Enhancers	Spleen	Spleen
8	chr11:120416600-120420400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:120416600-120421000	Enhancers	NHLF	lung
10	chr11:120416600-120421400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:120416600-120422200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr11:120416800-120419400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr11:120416800-120419600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:120416800-120419800	Enhancers	Left Ventricle	heart
15	chr11:120416800-120419800	Enhancers	NH-A	brain
16	chr11:120416800-120419800	Enhancers	NHDF-Ad	bronchial
17	chr11:120416800-120426200	Enhancers	Placenta	Placenta
18	chr11:120417000-120419400	Enhancers	Fetal Heart	heart
19	chr11:120417000-120419800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:120417000-120419800	Enhancers	Pancreas	Pancrea
21	chr11:120417000-120419800	Enhancers	HMEC	breast
22	chr11:120417200-120419200	Enhancers	Esophagus	oesophagus
23	chr11:120417200-120419200	Enhancers	Fetal Kidney	kidney
24	chr11:120417200-120419400	Enhancers	Brain Germinal Matrix	brain
25	chr11:120417200-120419800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:120417200-120419800	Enhancers	Right Ventricle	heart
27	chr11:120417200-120421000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:120417200-120421600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:120417200-120422200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:120417200-120422200	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr11:120417400-120419600	Enhancers	HUVEC	blood vessel
32	chr11:120417400-120419800	Enhancers	Brain Substantia Nigra	brain
33	chr11:120417400-120419800	Enhancers	Fetal Stomach	stomach
34	chr11:120417400-120421000	Enhancers	Brain Cingulate Gyrus	brain
35	chr11:120417400-120425600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:120417600-120419200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr11:120417600-120419200	Enhancers	Gastric	stomach
38	chr11:120417600-120419400	Enhancers	Placenta Amnion	Placenta Amnion
39	chr11:120417600-120419600	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr11:120417600-120419800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr11:120417600-120420400	Enhancers	Brain Anterior Caudate	brain
42	chr11:120417600-120420600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr11:120417600-120425600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr11:120417800-120419600	Enhancers	Adipose Nuclei	Adipose
45	chr11:120417800-120419600	Enhancers	Fetal Brain Female	brain
46	chr11:120417800-120419800	Enhancers	Fetal Intestine Small	intestine
47	chr11:120417800-120419800	Enhancers	Hela-S3	cervix
48	chr11:120417800-120420000	Enhancers	Brain Angular Gyrus	brain
49	chr11:120417800-120420600	Enhancers	Fetal Intestine Large	intestine
50	chr11:120418000-120419200	Flanking Active TSS	Stomach Smooth Muscle	stomach

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