Variant report

Variant	rs56252168
Chromosome Location	chr2:11515430-11515431
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11511350..11513048-chr2:11514615..11516700,2	K562	blood:
2	chr2:11508308..11513224-chr2:11514143..11518077,7	MCF-7	breast:
3	chr2:11503472..11505641-chr2:11513994..11516819,2	K562	blood:
4	chr2:11503850..11507049-chr2:11513264..11516627,3	MCF-7	breast:
5	chr2:11514491..11518486-chr2:11518719..11524773,5	K562	blood:

Variant related genes	Relation type
ENSG00000230952	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10803734	1.00[EUR][1000 genomes]
rs13410951	0.85[AFR][1000 genomes]
rs4668728	1.00[EUR][1000 genomes]
rs4669732	1.00[EUR][1000 genomes]
rs4669734	1.00[EUR][1000 genomes]
rs56239196	1.00[EUR][1000 genomes]
rs56273175	1.00[EUR][1000 genomes]
rs57251854	1.00[EUR][1000 genomes]
rs58477298	1.00[EUR][1000 genomes]
rs58819315	1.00[EUR][1000 genomes]
rs59554925	1.00[EUR][1000 genomes]
rs60798771	1.00[EUR][1000 genomes]
rs61091666	1.00[EUR][1000 genomes]
rs61358269	1.00[EUR][1000 genomes]
rs6432204	1.00[EUR][1000 genomes]
rs6432205	1.00[EUR][1000 genomes]
rs6432206	1.00[EUR][1000 genomes]
rs6710070	1.00[EUR][1000 genomes]
rs6712902	1.00[EUR][1000 genomes]
rs6739988	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73180141	1.00[EUR][1000 genomes]
rs73915200	1.00[EUR][1000 genomes]
rs73915202	1.00[EUR][1000 genomes]
rs73917203	1.00[EUR][1000 genomes]
rs73917206	1.00[EUR][1000 genomes]
rs73917207	1.00[EUR][1000 genomes]
rs7559230	1.00[EUR][1000 genomes]
rs7565382	1.00[EUR][1000 genomes]
rs7598673	1.00[EUR][1000 genomes]
rs7608777	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11507400-11516200	Enhancers	Stomach Mucosa	stomach
2	chr2:11512200-11518400	Enhancers	Fetal Intestine Small	intestine
3	chr2:11512800-11516200	Enhancers	Fetal Stomach	stomach
4	chr2:11513000-11515600	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr2:11513200-11515600	Enhancers	Primary B cells from peripheral blood	blood
6	chr2:11513200-11518200	Enhancers	Fetal Lung	lung
7	chr2:11513800-11515600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:11513800-11516000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr2:11513800-11516600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:11513800-11517600	Enhancers	Placenta	Placenta
11	chr2:11514200-11515600	Enhancers	Liver	Liver
12	chr2:11514400-11515600	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr2:11514400-11515600	Flanking Active TSS	Hela-S3	cervix
14	chr2:11514400-11515800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:11514400-11515800	Enhancers	Fetal Heart	heart
16	chr2:11514400-11516000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:11514400-11516200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:11514400-11516200	Enhancers	Psoas Muscle	Psoas
19	chr2:11514600-11515600	Enhancers	Esophagus	oesophagus
20	chr2:11514600-11515600	Enhancers	Right Ventricle	heart
21	chr2:11514600-11515800	Enhancers	Fetal Thymus	thymus
22	chr2:11514600-11516000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:11514600-11516000	Enhancers	Left Ventricle	heart
24	chr2:11514600-11516000	Enhancers	Right Atrium	heart
25	chr2:11514600-11516200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:11514600-11516200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:11514600-11516200	Enhancers	Pancreas	Pancrea
28	chr2:11514600-11517200	Enhancers	Spleen	Spleen
29	chr2:11514800-11516000	Flanking Active TSS	Colon Smooth Muscle	Colon
30	chr2:11514800-11516200	Enhancers	Small Intestine	intestine
31	chr2:11514800-11518000	Weak transcription	Primary B cells from cord blood	blood
32	chr2:11514800-11519200	Enhancers	Fetal Intestine Large	intestine
33	chr2:11515000-11515600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:11515000-11515800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:11515000-11516000	Enhancers	Aorta	Aorta
36	chr2:11515000-11516000	Enhancers	Lung	lung
37	chr2:11515000-11516400	Enhancers	NHDF-Ad	bronchial
38	chr2:11515000-11517200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:11515000-11517200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:11515000-11517400	Enhancers	Fetal Muscle Leg	muscle
41	chr2:11515000-11518400	Weak transcription	K562	blood
42	chr2:11515200-11515600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:11515200-11515600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:11515200-11515600	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr2:11515200-11515800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr2:11515200-11516000	Enhancers	Brain Anterior Caudate	brain
47	chr2:11515200-11516200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr2:11515200-11516200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:11515200-11516200	Enhancers	Adipose Nuclei	Adipose
50	chr2:11515200-11516200	Enhancers	Colonic Mucosa	Colon

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