Variant report

Variant	rs2270331
Chromosome Location	chr2:37572350-37572351
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37558808..37561496-chr2:37570984..37573398,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000207364	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2372998	0.93[EUR][1000 genomes]
rs2372999	0.92[EUR][1000 genomes]
rs3770755	0.92[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs3770756	0.91[EUR][1000 genomes]
rs3821142	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4444500	0.96[ASN][1000 genomes]
rs4670692	0.92[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs6544068	0.92[ASN][1000 genomes]
rs6708524	0.94[EUR][1000 genomes]
rs7600995	0.86[AFR][1000 genomes];0.87[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	nsv430724	chr2:37546820-37628704	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv2685	chr2:37550096-37594923	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37571000-37572800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:37571000-37572800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr2:37571400-37572400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr2:37571400-37572400	Active TSS	Brain Anterior Caudate	brain
5	chr2:37571400-37572400	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr2:37571400-37572400	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr2:37571400-37572400	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr2:37571400-37572600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
9	chr2:37571400-37572600	Active TSS	H9 Cell Line	embryonic stem cell
10	chr2:37571400-37572600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:37571400-37572600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr2:37571400-37572600	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr2:37571400-37572600	Active TSS	Brain Substantia Nigra	brain
14	chr2:37571400-37572600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
15	chr2:37571400-37572600	Active TSS	Fetal Kidney	kidney
16	chr2:37571400-37572600	Active TSS	Fetal Lung	lung
17	chr2:37571400-37572600	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr2:37571400-37572600	Active TSS	NHLF	lung
19	chr2:37571400-37572800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr2:37571400-37572800	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr2:37571400-37572800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr2:37571400-37572800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:37571400-37572800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:37571400-37572800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr2:37571400-37572800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:37571400-37572800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:37571400-37572800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
28	chr2:37571600-37572400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr2:37571600-37572400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:37571600-37572400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:37571600-37572400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:37571600-37572400	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr2:37571600-37572400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr2:37571600-37572400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr2:37571600-37572400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr2:37571600-37572400	Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr2:37571600-37572400	Active TSS	Colon Smooth Muscle	Colon
38	chr2:37571600-37572400	Active TSS	Duodenum Mucosa	Duodenum
39	chr2:37571600-37572400	Active TSS	Fetal Intestine Large	intestine
40	chr2:37571600-37572400	Active TSS	Fetal Intestine Small	intestine
41	chr2:37571600-37572400	Bivalent/Poised TSS	Fetal Stomach	stomach
42	chr2:37571600-37572400	Active TSS	Lung	lung
43	chr2:37571600-37572400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr2:37571600-37572600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:37571600-37572600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
46	chr2:37571600-37572600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
47	chr2:37571600-37572600	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr2:37571600-37572600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
49	chr2:37571600-37572600	Active TSS	Aorta	Aorta
50	chr2:37571600-37572600	Flanking Active TSS	Liver	Liver

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