Variant report

Variant	rs2252356
Chromosome Location	chr11:120418072-120418073
allele	A/G
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	chr11:120415952..120418206-chr11:120428187..120430423,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2252244	0.97[ASN][1000 genomes]
rs2252385	0.94[ASN][1000 genomes]
rs2266133	0.87[ASN][1000 genomes]
rs3901366	0.80[ASN][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:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120403800-120418800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:120403800-120418800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:120412400-120418600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:120414600-120419200	Enhancers	Primary B cells from peripheral blood	blood
5	chr11:120415400-120419200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr11:120415800-120420800	Enhancers	Fetal Lung	lung
7	chr11:120416400-120418600	Enhancers	Fetal Muscle Trunk	muscle
8	chr11:120416400-120421600	Enhancers	Ovary	ovary
9	chr11:120416400-120422200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr11:120416600-120418600	Enhancers	Brain Hippocampus Middle	brain
11	chr11:120416600-120419200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:120416600-120419800	Enhancers	Spleen	Spleen
13	chr11:120416600-120420400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:120416600-120421000	Enhancers	NHLF	lung
15	chr11:120416600-120421400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:120416600-120422200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr11:120416800-120418600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr11:120416800-120418800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:120416800-120419400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr11:120416800-120419600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:120416800-120419800	Enhancers	Left Ventricle	heart
22	chr11:120416800-120419800	Enhancers	NH-A	brain
23	chr11:120416800-120419800	Enhancers	NHDF-Ad	bronchial
24	chr11:120416800-120426200	Enhancers	Placenta	Placenta
25	chr11:120417000-120419000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:120417000-120419400	Enhancers	Fetal Heart	heart
27	chr11:120417000-120419800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:120417000-120419800	Enhancers	Pancreas	Pancrea
29	chr11:120417000-120419800	Enhancers	HMEC	breast
30	chr11:120417200-120418200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr11:120417200-120418400	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr11:120417200-120419000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:120417200-120419200	Enhancers	Esophagus	oesophagus
34	chr11:120417200-120419200	Enhancers	Fetal Kidney	kidney
35	chr11:120417200-120419400	Enhancers	Brain Germinal Matrix	brain
36	chr11:120417200-120419800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:120417200-120419800	Enhancers	Right Ventricle	heart
38	chr11:120417200-120421000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:120417200-120421600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:120417200-120422200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:120417200-120422200	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr11:120417400-120418600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr11:120417400-120419600	Enhancers	HUVEC	blood vessel
44	chr11:120417400-120419800	Enhancers	Brain Substantia Nigra	brain
45	chr11:120417400-120419800	Enhancers	Fetal Stomach	stomach
46	chr11:120417400-120421000	Enhancers	Brain Cingulate Gyrus	brain
47	chr11:120417400-120425600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:120417600-120418200	Flanking Active TSS	HSMM	muscle
49	chr11:120417600-120418200	Bivalent Enhancer	NHEK	skin
50	chr11:120417600-120418200	Flanking Active TSS	Osteobl	bone

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