Variant report

Variant	rs56239196
Chromosome Location	chr2:11521300-11521301
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11484399..11488714-chr2:11519087..11522715,4	MCF-7	breast:
2	chr2:11514491..11518486-chr2:11518719..11524773,5	K562	blood:
3	chr2:11520154..11521911-chr2:11530185..11533022,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231403	Chromatin interaction
ENSG00000134318	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10803734	1.00[EUR][1000 genomes]
rs4668728	1.00[EUR][1000 genomes]
rs4669732	1.00[EUR][1000 genomes]
rs4669734	1.00[EUR][1000 genomes]
rs56252168	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	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:3 , 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
3	esv3366290	chr2:11519851-11521849	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11515400-11526000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:11516000-11526000	Weak transcription	Aorta	Aorta
3	chr2:11516200-11522400	Weak transcription	Hela-S3	cervix
4	chr2:11516200-11528400	Weak transcription	Pancreas	Pancrea
5	chr2:11517600-11536400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:11518600-11525800	Weak transcription	HSMM	muscle
7	chr2:11519000-11537400	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:11519200-11523800	Weak transcription	Fetal Intestine Large	intestine
9	chr2:11519200-11525200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:11519200-11530800	Weak transcription	Brain Anterior Caudate	brain
11	chr2:11519600-11521800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:11519600-11524000	Weak transcription	Fetal Intestine Small	intestine
13	chr2:11519600-11525800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr2:11520000-11526000	Weak transcription	Lung	lung
15	chr2:11520000-11526200	Weak transcription	Right Atrium	heart
16	chr2:11520000-11529400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:11520200-11522400	Weak transcription	NHDF-Ad	bronchial
18	chr2:11520200-11522800	Enhancers	HepG2	liver
19	chr2:11520200-11526000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr2:11520200-11526200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:11520200-11526200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:11520200-11527800	Weak transcription	Small Intestine	intestine
23	chr2:11520200-11531600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:11520400-11521400	Weak transcription	Fetal Lung	lung
25	chr2:11520400-11525400	Weak transcription	Liver	Liver
26	chr2:11520400-11525600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:11520400-11525800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:11520400-11525800	Weak transcription	Fetal Heart	heart
29	chr2:11520400-11525800	Weak transcription	Osteobl	bone
30	chr2:11520800-11521600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr2:11521000-11521600	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr2:11521000-11521800	Enhancers	A549	lung
33	chr2:11521000-11521800	Enhancers	HUVEC	blood vessel
34	chr2:11521200-11521600	Enhancers	Monocytes-CD14+_RO01746	blood

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