Variant report

Variant	rs3771228
Chromosome Location	chr2:20421786-20421787
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20301244..20303124-chr2:20419816..20421979,2	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	chr2:20313583..20314286-chr2:20421022..20421966,2	MCF-7	breast:
5	chr2:20306020..20309024-chr2:20421635..20424090,4	MCF-7	breast:
6	chr2:20249888..20254017-chr2:20419396..20423263,3	MCF-7	breast:

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

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11096655	0.95[CEU][hapmap];0.81[AMR][1000 genomes]
rs11679966	0.81[AMR][1000 genomes]
rs11686919	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2110409	0.95[CEU][hapmap];0.82[CHB][hapmap]
rs2160072	0.83[CEU][hapmap]
rs343164	0.95[CEU][hapmap]
rs4666299	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4666382	0.95[CEU][hapmap];0.82[CHB][hapmap]
rs6531232	0.96[CEU][hapmap];0.83[CHB][hapmap]

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:70 , 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	chr2:20415200-20422000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:20415600-20422200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:20415800-20423200	Weak transcription	Small Intestine	intestine
8	chr2:20416000-20423800	Transcr. at gene 5' and 3'	NHEK	skin
9	chr2:20416200-20423200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:20417200-20422000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr2:20417800-20422800	Transcr. at gene 5' and 3'	HMEC	breast
12	chr2:20418000-20422000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:20418400-20422400	Genic enhancers	HepG2	liver
14	chr2:20418600-20422000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:20418600-20422600	Weak transcription	Fetal Kidney	kidney
16	chr2:20418800-20421800	Weak transcription	Fetal Brain Male	brain
17	chr2:20418800-20423000	Flanking Active TSS	Liver	Liver
18	chr2:20419200-20422600	Enhancers	Fetal Intestine Large	intestine
19	chr2:20419400-20422600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:20420000-20422000	Weak transcription	Colonic Mucosa	Colon
21	chr2:20420000-20422600	Genic enhancers	Fetal Intestine Small	intestine
22	chr2:20420200-20422200	Weak transcription	Fetal Stomach	stomach
23	chr2:20420200-20422400	Weak transcription	Pancreas	Pancrea
24	chr2:20420200-20422400	Weak transcription	Spleen	Spleen
25	chr2:20420200-20422800	Weak transcription	Gastric	stomach
26	chr2:20420200-20422800	Enhancers	Placenta Amnion	Placenta Amnion
27	chr2:20420400-20422000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr2:20420400-20423200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:20420600-20422000	Weak transcription	Esophagus	oesophagus
30	chr2:20420600-20422200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:20420600-20422400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:20420600-20422400	Genic enhancers	A549	lung
33	chr2:20420600-20422600	Enhancers	NH-A	brain
34	chr2:20420600-20422600	Enhancers	NHDF-Ad	bronchial
35	chr2:20420600-20422800	Enhancers	NHLF	lung
36	chr2:20420800-20422000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr2:20420800-20422200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:20420800-20422600	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr2:20420800-20422800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:20420800-20422800	Enhancers	Osteobl	bone
41	chr2:20420800-20423000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:20421000-20422000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr2:20421000-20422200	Enhancers	Muscle Satellite Cultured Cells	--
44	chr2:20421000-20422400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:20421000-20422400	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr2:20421000-20422400	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr2:20421000-20422400	Enhancers	Stomach Mucosa	stomach
48	chr2:20421000-20422600	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr2:20421000-20422600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:20421000-20422800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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