Variant report

Variant	rs17036033
Chromosome Location	chr2:47227768-47227769
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47225653..47227816-chr2:47235641..47238681,3	MCF-7	breast:
2	chr2:47226708..47229516-chr2:47234175..47237170,3	K562	blood:
3	chr2:47202754..47204715-chr2:47226558..47228586,2	K562	blood:
4	chr2:47226060..47229055-chr2:47402454..47404695,2	K562	blood:
5	chr2:47226109..47228656-chr2:47403165..47405238,2	K562	blood:
6	chr2:47227228..47229377-chr2:47229384..47232229,2	K562	blood:

Variant related genes	Relation type
ENSG00000143933	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs13399571	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13425630	1.00[JPT][hapmap]
rs17036022	1.00[ASW][hapmap];0.82[CEU][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17036073	1.00[JPT][hapmap]
rs17480869	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17480988	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17481037	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17481209	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17540157	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17540219	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17540462	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3814035	1.00[CEU][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55641002	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55805005	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55824224	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56186415	0.87[ASN][1000 genomes]
rs58637066	1.00[ASN][1000 genomes]
rs58674434	1.00[ASN][1000 genomes]
rs59785154	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60732316	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6726941	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6727430	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6727529	1.00[ASN][1000 genomes]
rs6751599	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6751621	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6754795	1.00[ASN][1000 genomes]
rs6755001	1.00[ASN][1000 genomes]
rs72806525	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72806536	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72806537	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72806538	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72806541	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72806558	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72806562	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72806571	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7564728	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7576915	1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv581750	chr2:47207665-47229953	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47196600-47227800	Strong transcription	Dnd41	blood
2	chr2:47213600-47256400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:47214000-47262000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:47214200-47231000	Weak transcription	K562	blood
5	chr2:47214200-47235400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:47214600-47242000	Strong transcription	Thymus	Thymus
7	chr2:47214800-47228600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr2:47214800-47229000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr2:47214800-47229400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr2:47214800-47229600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:47214800-47230400	Strong transcription	Osteobl	bone
12	chr2:47214800-47231200	Weak transcription	HUVEC	blood vessel
13	chr2:47214800-47233400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:47214800-47237200	Strong transcription	Primary T cells from cord blood	blood
15	chr2:47214800-47239200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr2:47215200-47227800	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr2:47215200-47243800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr2:47215400-47235800	Strong transcription	Primary B cells from cord blood	blood
19	chr2:47215600-47245200	Strong transcription	Primary B cells from peripheral blood	blood
20	chr2:47216400-47228800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr2:47216400-47241600	Strong transcription	Fetal Thymus	thymus
22	chr2:47216600-47229000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:47216600-47229400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:47216800-47228600	Strong transcription	Fetal Intestine Small	intestine
25	chr2:47217000-47228000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr2:47217400-47228000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:47217400-47228200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:47217800-47227800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:47217800-47228200	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr2:47218000-47229000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:47218400-47228400	Strong transcription	Duodenum Mucosa	Duodenum
32	chr2:47218400-47229400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr2:47218600-47228600	Strong transcription	NHLF	lung
34	chr2:47218800-47228600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:47219000-47228200	Strong transcription	Primary hematopoietic stem cells	blood
36	chr2:47219000-47229600	Strong transcription	Spleen	Spleen
37	chr2:47219600-47235400	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr2:47221600-47229600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr2:47222000-47260600	Weak transcription	Small Intestine	intestine
40	chr2:47222200-47228400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:47222600-47229800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr2:47223200-47229600	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr2:47223200-47235800	Weak transcription	Fetal Kidney	kidney
44	chr2:47223400-47227800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:47223400-47229000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:47223400-47229200	Weak transcription	Fetal Brain Male	brain
47	chr2:47223400-47229800	Weak transcription	Hela-S3	cervix
48	chr2:47223400-47238400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr2:47223400-47239400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr2:47223600-47235600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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