Variant report

Variant	rs73231460
Chromosome Location	chr2:20422118-20422119
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20299695..20307724-chr2:20421846..20426859,15	MCF-7	breast:
2	chr2:20249637..20253449-chr2:20421472..20424385,3	MCF-7	breast:
3	chr2:20157887..20159473-chr2:20420201..20422160,2	MCF-7	breast:
4	chr2:20306020..20309024-chr2:20421635..20424090,4	MCF-7	breast:
5	chr2:20249888..20254017-chr2:20419396..20423263,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234378	Chromatin interaction
ENSG00000223734	Chromatin interaction
ENSG00000068697	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs13383113	0.89[AMR][1000 genomes]
rs34057700	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56021041	0.89[AMR][1000 genomes]
rs56175611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57753286	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61039314	0.89[AMR][1000 genomes]
rs73214387	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73216297	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73216299	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73218109	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73218119	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73218120	0.86[AFR][1000 genomes]
rs73231458	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1846803	chr2:20409322-20427189	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20391800-20423200	Weak transcription	Right Atrium	heart
2	chr2:20404000-20422400	Weak transcription	Brain Germinal Matrix	brain
3	chr2:20413200-20423000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:20414200-20423000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:20415600-20422200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:20415800-20423200	Weak transcription	Small Intestine	intestine
7	chr2:20416000-20423800	Transcr. at gene 5' and 3'	NHEK	skin
8	chr2:20416200-20423200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:20417800-20422800	Transcr. at gene 5' and 3'	HMEC	breast
10	chr2:20418400-20422400	Genic enhancers	HepG2	liver
11	chr2:20418600-20422600	Weak transcription	Fetal Kidney	kidney
12	chr2:20418800-20423000	Flanking Active TSS	Liver	Liver
13	chr2:20419200-20422600	Enhancers	Fetal Intestine Large	intestine
14	chr2:20419400-20422600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:20420000-20422600	Genic enhancers	Fetal Intestine Small	intestine
16	chr2:20420200-20422200	Weak transcription	Fetal Stomach	stomach
17	chr2:20420200-20422400	Weak transcription	Pancreas	Pancrea
18	chr2:20420200-20422400	Weak transcription	Spleen	Spleen
19	chr2:20420200-20422800	Weak transcription	Gastric	stomach
20	chr2:20420200-20422800	Enhancers	Placenta Amnion	Placenta Amnion
21	chr2:20420400-20423200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:20420600-20422200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:20420600-20422400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:20420600-20422400	Genic enhancers	A549	lung
25	chr2:20420600-20422600	Enhancers	NH-A	brain
26	chr2:20420600-20422600	Enhancers	NHDF-Ad	bronchial
27	chr2:20420600-20422800	Enhancers	NHLF	lung
28	chr2:20420800-20422200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:20420800-20422600	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr2:20420800-20422800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:20420800-20422800	Enhancers	Osteobl	bone
32	chr2:20420800-20423000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:20421000-20422200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr2:20421000-20422400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:20421000-20422400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr2:20421000-20422400	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr2:20421000-20422400	Enhancers	Stomach Mucosa	stomach
38	chr2:20421000-20422600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr2:20421000-20422600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:20421000-20422800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:20421000-20422800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr2:20421000-20422800	Weak transcription	Lung	lung
43	chr2:20421200-20422400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:20421200-20422600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:20421200-20422600	Enhancers	Fetal Lung	lung
46	chr2:20421400-20422600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:20421400-20423200	Weak transcription	HSMMtube	muscle
48	chr2:20421600-20422200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:20421600-20422400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:20421600-20422400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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