Variant report

Variant	rs2570511
Chromosome Location	chr2:47292381-47292382
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47288795..47291567-chr2:47291902..47294947,3	K562	blood:
2	chr2:47271461..47273944-chr2:47289960..47292872,2	K562	blood:
3	chr2:47292091..47294356-chr2:47400826..47402359,2	K562	blood:
4	chr2:47287750..47290295-chr2:47291902..47294626,3	K562	blood:

Variant related genes	Relation type
ENSG00000068724	Chromatin interaction
ENSG00000143933	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11125114	0.97[ASN][1000 genomes]
rs13393256	0.84[ASN][1000 genomes]
rs1573958	0.86[EUR][1000 genomes]
rs1807327	0.97[ASN][1000 genomes]
rs1807328	0.97[ASN][1000 genomes]
rs2436768	0.90[ASN][1000 genomes]
rs2436772	0.83[EUR][1000 genomes]
rs2462590	0.82[EUR][1000 genomes]
rs2570513	0.85[ASN][1000 genomes]
rs2692216	0.90[ASN][1000 genomes]
rs2692219	0.90[ASN][1000 genomes]
rs2916261	0.84[ASN][1000 genomes]
rs6544954	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs736147	0.97[ASN][1000 genomes]
rs736148	0.97[ASN][1000 genomes]
rs940737	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9973596	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv525197	chr2:47210747-47297973	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	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
9	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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47230200-47302800	Strong transcription	Dnd41	blood
2	chr2:47259600-47295000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:47270800-47296600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:47274800-47292800	Weak transcription	Hela-S3	cervix
5	chr2:47282000-47293400	Enhancers	Brain Substantia Nigra	brain
6	chr2:47284400-47296400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:47284400-47296400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr2:47284600-47296000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:47284600-47298400	Strong transcription	Thymus	Thymus
10	chr2:47284800-47292600	Weak transcription	Small Intestine	intestine
11	chr2:47285000-47292800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:47285000-47295000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr2:47285000-47295200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr2:47285000-47295400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr2:47285200-47295800	Strong transcription	Primary T cells from cord blood	blood
16	chr2:47285400-47292400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:47285400-47292600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr2:47285600-47292400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr2:47285800-47292600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr2:47286000-47292400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr2:47286000-47292800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:47286400-47295400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr2:47286600-47295000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:47286800-47292600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr2:47286800-47296000	Strong transcription	Primary B cells from peripheral blood	blood
26	chr2:47286800-47296600	Strong transcription	Fetal Thymus	thymus
27	chr2:47287400-47296200	Strong transcription	Primary B cells from cord blood	blood
28	chr2:47287600-47293400	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr2:47287800-47292400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:47287800-47292800	Genic enhancers	NHDF-Ad	bronchial
31	chr2:47287800-47294600	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr2:47287800-47296600	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr2:47288000-47293800	Enhancers	Stomach Mucosa	stomach
34	chr2:47288000-47295000	Genic enhancers	Fetal Muscle Trunk	muscle
35	chr2:47288000-47300400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:47288400-47292400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr2:47288400-47292400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:47288400-47293800	Enhancers	HSMMtube	muscle
39	chr2:47288400-47296400	Enhancers	Fetal Heart	heart
40	chr2:47288800-47293200	Enhancers	Brain Angular Gyrus	brain
41	chr2:47289200-47293400	Enhancers	Brain Cingulate Gyrus	brain
42	chr2:47289200-47293400	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr2:47289400-47293200	Weak transcription	Liver	Liver
44	chr2:47289400-47293600	Enhancers	Brain Anterior Caudate	brain
45	chr2:47289400-47294600	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr2:47289600-47293200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:47289600-47295000	Weak transcription	Gastric	stomach
48	chr2:47290200-47295800	Genic enhancers	HepG2	liver
49	chr2:47290400-47292800	Weak transcription	Ovary	ovary
50	chr2:47290400-47299000	Genic enhancers	Fetal Muscle Leg	muscle

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