Variant report

Variant	rs2113632
Chromosome Location	chr2:36587513-36587514
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:36586047..36587747-chr2:36587978..36589584,2	MCF-7	breast:
2	chr2:36587314..36589813-chr2:36643724..36646171,2	MCF-7	breast:
3	chr2:36586071..36588141-chr2:36602497..36605299,2	MCF-7	breast:
4	chr2:36581144..36585281-chr2:36586722..36590613,9	MCF-7	breast:
5	chr2:36585288..36588127-chr2:36593960..36595657,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260025	Chromatin interaction
ENSG00000150938	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10167098	0.82[EUR][1000 genomes]
rs1159133	0.80[EUR][1000 genomes]
rs12465282	0.81[EUR][1000 genomes]
rs12465297	0.81[EUR][1000 genomes]
rs2113631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2161904	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2888338	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3770947	0.88[EUR][1000 genomes]
rs3770955	0.84[EUR][1000 genomes]
rs3770963	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4670548	0.95[EUR][1000 genomes]
rs6708545	0.90[EUR][1000 genomes]
rs6711707	0.82[EUR][1000 genomes]
rs6721505	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6728742	0.84[EUR][1000 genomes]
rs7589917	0.81[EUR][1000 genomes]
rs888076	0.88[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	esv2757792	chr2:36243452-36590658	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv2759040	chr2:36243452-36590658	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36585200-36589600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:36585200-36589600	Weak transcription	Esophagus	oesophagus
3	chr2:36585200-36596400	Weak transcription	Pancreas	Pancrea
4	chr2:36585400-36590000	Transcr. at gene 5' and 3'	A549	lung
5	chr2:36585400-36590400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:36585800-36587800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:36585800-36587800	Enhancers	Fetal Intestine Small	intestine
8	chr2:36585800-36588800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:36585800-36589200	Enhancers	Duodenum Mucosa	Duodenum
10	chr2:36585800-36589400	Weak transcription	Fetal Intestine Large	intestine
11	chr2:36585800-36589600	Weak transcription	Lung	lung
12	chr2:36585800-36589800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr2:36585800-36590600	Weak transcription	Colonic Mucosa	Colon
14	chr2:36585800-36596400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:36586000-36587800	Weak transcription	Brain Substantia Nigra	brain
16	chr2:36586000-36588000	Enhancers	Fetal Kidney	kidney
17	chr2:36586000-36588000	Transcr. at gene 5' and 3'	HSMM	muscle
18	chr2:36586000-36588800	Enhancers	Rectal Smooth Muscle	rectum
19	chr2:36586000-36589000	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr2:36586000-36590200	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr2:36586000-36590400	Enhancers	Fetal Lung	lung
22	chr2:36586000-36591800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr2:36586000-36593000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr2:36586000-36593600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr2:36586200-36588200	Enhancers	Fetal Brain Male	brain
26	chr2:36586200-36588800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:36586200-36589400	Enhancers	Fetal Brain Female	brain
28	chr2:36586200-36589800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:36586200-36589800	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr2:36586200-36603600	Weak transcription	Brain Germinal Matrix	brain
31	chr2:36586200-36626600	Weak transcription	Primary B cells from cord blood	blood
32	chr2:36586400-36588000	Flanking Active TSS	HepG2	liver
33	chr2:36586400-36588400	Weak transcription	Brain Hippocampus Middle	brain
34	chr2:36586400-36588800	Weak transcription	Right Atrium	heart
35	chr2:36586400-36589000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:36586400-36589200	Transcr. at gene 5' and 3'	Osteobl	bone
37	chr2:36586400-36589400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr2:36586400-36591800	Enhancers	Placenta	Placenta
39	chr2:36586600-36587600	Weak transcription	Brain Anterior Caudate	brain
40	chr2:36586600-36587800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr2:36586600-36588000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr2:36586600-36588000	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr2:36586600-36588000	Transcr. at gene 5' and 3'	HMEC	breast
44	chr2:36586600-36588800	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr2:36586600-36589000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:36586600-36589200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:36586600-36589600	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr2:36586600-36589600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr2:36586600-36590000	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
50	chr2:36586600-36596400	Weak transcription	Brain Inferior Temporal Lobe	brain

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