Variant report

Variant	rs72806575
Chromosome Location	chr2:47234684-47234685
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47145956..47148459-chr2:47233985..47235692,2	K562	blood:
2	chr2:47232895..47237077-chr2:47401374..47404385,4	MCF-7	breast:
3	chr2:47226708..47229516-chr2:47234175..47237170,3	K562	blood:
4	chr2:47233787..47236309-chr2:47402824..47405556,2	K562	blood:
5	chr2:47169747..47171383-chr2:47233270..47235359,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143933	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17036039	1.00[EUR][1000 genomes]
rs56179906	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58674434	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61155978	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72806576	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72806578	1.00[EUR][1000 genomes]
rs72806585	0.96[EUR][1000 genomes]
rs72806588	0.89[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	nsv517929	chr2:47217094-47243312	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv518312	chr2:47224927-47262137	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47213600-47256400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:47214000-47262000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:47214200-47235400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:47214600-47242000	Strong transcription	Thymus	Thymus
5	chr2:47214800-47237200	Strong transcription	Primary T cells from cord blood	blood
6	chr2:47214800-47239200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr2:47215200-47243800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr2:47215400-47235800	Strong transcription	Primary B cells from cord blood	blood
9	chr2:47215600-47245200	Strong transcription	Primary B cells from peripheral blood	blood
10	chr2:47216400-47241600	Strong transcription	Fetal Thymus	thymus
11	chr2:47219600-47235400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:47222000-47260600	Weak transcription	Small Intestine	intestine
13	chr2:47223200-47235800	Weak transcription	Fetal Kidney	kidney
14	chr2:47223400-47238400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr2:47223400-47239400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr2:47223600-47235600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:47223600-47239400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:47223600-47246800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:47224800-47238400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:47229200-47243000	Enhancers	Fetal Brain Male	brain
21	chr2:47229200-47248600	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr2:47229400-47235600	Enhancers	Fetal Brain Female	brain
23	chr2:47229600-47237000	Genic enhancers	Fetal Stomach	stomach
24	chr2:47230200-47234800	Strong transcription	Pancreas	Pancrea
25	chr2:47230200-47235800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:47230200-47236600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:47230200-47302800	Strong transcription	Dnd41	blood
28	chr2:47230400-47235600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr2:47230600-47235400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:47230600-47235400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr2:47230600-47235800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr2:47230600-47236600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:47230800-47243000	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr2:47231200-47235200	Strong transcription	Fetal Intestine Small	intestine
35	chr2:47231200-47235400	Strong transcription	Duodenum Mucosa	Duodenum
36	chr2:47231400-47235000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:47231400-47235400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr2:47231400-47242000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr2:47231400-47243000	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr2:47231600-47239400	Weak transcription	NHEK	skin
41	chr2:47231600-47241200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:47231600-47243000	Strong transcription	Placenta	Placenta
43	chr2:47231600-47243000	Weak transcription	HUVEC	blood vessel
44	chr2:47231800-47235400	Strong transcription	Osteobl	bone
45	chr2:47231800-47243800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:47232000-47234800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:47232000-47235400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr2:47232000-47235400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr2:47232000-47240000	Weak transcription	Hela-S3	cervix
50	chr2:47232000-47241600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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