Variant report

Variant	rs2252494
Chromosome Location	chr11:120416923-120416924
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: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11217913	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12278730	0.87[EUR][1000 genomes]
rs12278740	0.88[EUR][1000 genomes]
rs2252634	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2252648	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2253023	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2266100	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2266101	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2266132	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2266134	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2510876	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2510877	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4936519	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61900898	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv1053749	chr11:120398643-120417586	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	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
8	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
9	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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120398600-120417200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:120403800-120417000	Weak transcription	Right Atrium	heart
3	chr11:120403800-120418800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:120403800-120418800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:120411800-120417200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:120412400-120418600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:120412600-120417800	Weak transcription	Fetal Intestine Large	intestine
8	chr11:120412600-120417800	Weak transcription	Fetal Intestine Small	intestine
9	chr11:120413800-120417600	Enhancers	HSMMtube	muscle
10	chr11:120414600-120419200	Enhancers	Primary B cells from peripheral blood	blood
11	chr11:120415400-120419200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:120415600-120417000	Weak transcription	Fetal Heart	heart
13	chr11:120415600-120417600	Enhancers	Primary B cells from cord blood	blood
14	chr11:120415800-120417200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:120415800-120420800	Enhancers	Fetal Lung	lung
16	chr11:120416000-120417200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr11:120416000-120417400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:120416400-120418600	Enhancers	Fetal Muscle Trunk	muscle
19	chr11:120416400-120421600	Enhancers	Ovary	ovary
20	chr11:120416400-120422200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr11:120416600-120417000	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr11:120416600-120417200	Enhancers	HSMM	muscle
23	chr11:120416600-120417400	Bivalent Enhancer	Fetal Stomach	stomach
24	chr11:120416600-120418600	Enhancers	Brain Hippocampus Middle	brain
25	chr11:120416600-120419200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:120416600-120419800	Enhancers	Spleen	Spleen
27	chr11:120416600-120420400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:120416600-120421000	Enhancers	NHLF	lung
29	chr11:120416600-120421400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:120416600-120422200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr11:120416800-120417000	Enhancers	Lung	lung
32	chr11:120416800-120417200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr11:120416800-120417400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:120416800-120417400	Enhancers	GM12878-XiMat	blood
35	chr11:120416800-120417600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr11:120416800-120417600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:120416800-120418000	Enhancers	H1 Cell Line	embryonic stem cell
38	chr11:120416800-120418600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr11:120416800-120418800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr11:120416800-120419400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr11:120416800-120419600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr11:120416800-120419800	Enhancers	Left Ventricle	heart
43	chr11:120416800-120419800	Enhancers	NH-A	brain
44	chr11:120416800-120419800	Enhancers	NHDF-Ad	bronchial
45	chr11:120416800-120426200	Enhancers	Placenta	Placenta

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