Variant report

Variant	rs57590657
Chromosome Location	chr2:47298478-47298479
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47296882..47300780-chr2:47402133..47404640,4	K562	blood:
2	chr2:47295023..47298657-chr2:47300855..47310213,9	MCF-7	breast:
3	chr2:47293721..47296795-chr2:47297396..47301843,4	K562	blood:
4	chr2:47296939..47299679-chr2:47400831..47403571,2	MCF-7	breast:
5	chr2:47297108..47300673-chr2:47304396..47307131,4	K562	blood:
6	chr2:47298364..47306534-chr2:47399903..47404660,8	K562	blood:

Variant related genes	Relation type
ENSG00000225187	Chromatin interaction
ENSG00000143933	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17036223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17036229	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57047194	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57558077	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58098113	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58579003	1.00[EUR][1000 genomes]
rs59510879	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6708855	1.00[EUR][1000 genomes]
rs72875111	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72875114	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72877003	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
5	nsv524970	chr2:47162739-47302095	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1000377	chr2:47189386-47344029	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv984437	chr2:47270533-47307361	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv873998	chr2:47273732-47313624	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47230200-47302800	Strong transcription	Dnd41	blood
2	chr2:47288000-47300400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:47290400-47299000	Genic enhancers	Fetal Muscle Leg	muscle
4	chr2:47291600-47300800	Weak transcription	Brain Germinal Matrix	brain
5	chr2:47291800-47301200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr2:47292000-47298800	Enhancers	Placenta	Placenta
7	chr2:47292400-47299600	Enhancers	HUVEC	blood vessel
8	chr2:47292600-47302200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:47292800-47300000	Enhancers	NHDF-Ad	bronchial
10	chr2:47293000-47300600	Enhancers	Right Ventricle	heart
11	chr2:47293000-47301400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr2:47293200-47299200	Enhancers	Liver	Liver
13	chr2:47294400-47298600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:47294400-47301000	Enhancers	Right Atrium	heart
15	chr2:47294600-47300000	Enhancers	Brain Substantia Nigra	brain
16	chr2:47295000-47299200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:47295000-47299200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr2:47295000-47299200	Enhancers	Psoas Muscle	Psoas
19	chr2:47295000-47299200	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr2:47295000-47300000	Enhancers	Fetal Muscle Trunk	muscle
21	chr2:47295000-47300600	Enhancers	Primary hematopoietic stem cells	blood
22	chr2:47295000-47300600	Genic enhancers	Fetal Stomach	stomach
23	chr2:47295000-47300600	Enhancers	Ovary	ovary
24	chr2:47295000-47300600	Enhancers	NH-A	brain
25	chr2:47295000-47301200	Enhancers	Left Ventricle	heart
26	chr2:47295000-47301400	Genic enhancers	Esophagus	oesophagus
27	chr2:47295200-47298800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr2:47295200-47299200	Enhancers	Brain Cingulate Gyrus	brain
29	chr2:47295400-47298800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr2:47295400-47299000	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr2:47295400-47299200	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr2:47295400-47299600	Enhancers	Placenta Amnion	Placenta Amnion
33	chr2:47295400-47300200	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr2:47295400-47301000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:47295600-47299000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr2:47295600-47299200	Enhancers	Fetal Lung	lung
37	chr2:47295800-47300200	Genic enhancers	Fetal Intestine Small	intestine
38	chr2:47295800-47300200	Enhancers	Lung	lung
39	chr2:47295800-47301200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:47295800-47301200	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr2:47296000-47298800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:47296000-47299000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:47296000-47299000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr2:47296000-47299000	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr2:47296000-47299400	Enhancers	HMEC	breast
46	chr2:47296000-47299600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:47296000-47300400	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr2:47296000-47300600	Enhancers	Brain Angular Gyrus	brain
49	chr2:47296000-47302000	Genic enhancers	Primary B cells from peripheral blood	blood
50	chr2:47296200-47298600	Enhancers	Gastric	stomach

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