Variant report

Variant	rs2373091
Chromosome Location	chr3:46048027-46048028
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46035848..46038695-chr3:46046466..46052317,5	K562	blood:
2	chr3:46038853..46042411-chr3:46045896..46048992,3	K562	blood:
3	chr3:46044700..46047149-chr3:46047918..46051696,3	K562	blood:

Variant related genes	Relation type
ENSG00000163820	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs35678722	1.00[AMR][1000 genomes]
rs58248472	1.00[AMR][1000 genomes]
rs59463879	1.00[AMR][1000 genomes]
rs59551829	1.00[AMR][1000 genomes]
rs60514862	1.00[AMR][1000 genomes]
rs60663814	1.00[AMR][1000 genomes]
rs61630411	1.00[AMR][1000 genomes]
rs6798465	1.00[AMR][1000 genomes]
rs6806198	1.00[AMR][1000 genomes]
rs72884905	1.00[AMR][1000 genomes]
rs72884920	1.00[AMR][1000 genomes]
rs7619090	1.00[AMR][1000 genomes]
rs7631934	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2756987	chr3:46016464-46120400	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2759145	chr3:46016464-46120400	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv1805205	chr3:46032847-46111081	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46037600-46053000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:46037600-46064600	Weak transcription	Gastric	stomach
3	chr3:46046200-46048200	Enhancers	Placenta	Placenta
4	chr3:46046200-46050000	Enhancers	Ovary	ovary
5	chr3:46046600-46048600	Enhancers	Adipose Nuclei	Adipose
6	chr3:46047200-46049200	Enhancers	NHDF-Ad	bronchial
7	chr3:46047400-46048200	Enhancers	Left Ventricle	heart
8	chr3:46047400-46048400	Enhancers	Stomach Smooth Muscle	stomach
9	chr3:46047400-46048600	Enhancers	Fetal Muscle Leg	muscle
10	chr3:46047400-46048600	Enhancers	Psoas Muscle	Psoas
11	chr3:46047400-46048600	Enhancers	Right Ventricle	heart
12	chr3:46047400-46048600	Enhancers	HSMMtube	muscle
13	chr3:46047400-46048800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr3:46047400-46049000	Enhancers	Fetal Lung	lung
15	chr3:46047400-46049200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:46047600-46048200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr3:46047600-46048600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr3:46047600-46048600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr3:46047600-46048600	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr3:46047600-46048800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:46047600-46048800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr3:46047600-46049000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr3:46047600-46049200	Enhancers	Osteobl	bone
24	chr3:46047800-46048200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:46047800-46048200	Enhancers	Right Atrium	heart
26	chr3:46047800-46048400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr3:46047800-46048400	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr3:46047800-46048400	Enhancers	Colon Smooth Muscle	Colon
29	chr3:46047800-46048600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr3:46047800-46048600	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr3:46047800-46048600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr3:46047800-46048600	Enhancers	Liver	Liver
33	chr3:46047800-46048600	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr3:46047800-46048600	Enhancers	Fetal Stomach	stomach
35	chr3:46047800-46048600	Enhancers	Rectal Smooth Muscle	rectum
36	chr3:46047800-46048600	Enhancers	HSMM	muscle
37	chr3:46047800-46048800	Enhancers	Muscle Satellite Cultured Cells	--
38	chr3:46047800-46049200	Enhancers	H9 Cell Line	embryonic stem cell
39	chr3:46047800-46049200	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr3:46047800-46049600	Enhancers	NHLF	lung
41	chr3:46048000-46048400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr3:46048000-46048400	Flanking Active TSS	Hela-S3	cervix
43	chr3:46048000-46048600	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr3:46048000-46048600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr3:46048000-46048600	Enhancers	HMEC	breast
46	chr3:46048000-46048600	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr3:46048000-46048600	Enhancers	NHEK	skin

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