Variant report

Variant	rs12056051
Chromosome Location	chr7:38220564-38220565
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:38218320..38221053-chr7:38246020..38247686,2	K562	blood:
2	chr7:38219568..38221988-chr7:38224913..38228070,4	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11561858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12154578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12155282	0.84[AMR][1000 genomes]
rs12155480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12701609	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12701610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12701612	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12701619	0.84[AMR][1000 genomes]
rs13224408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13228253	0.83[EUR][1000 genomes]
rs13228385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13230963	0.84[AMR][1000 genomes]
rs13235913	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13241002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13244147	0.84[AMR][1000 genomes]
rs13244639	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17171309	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17171318	0.84[AMR][1000 genomes]
rs17171319	0.84[AMR][1000 genomes]
rs2075008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2270166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2270170	0.84[AMR][1000 genomes]
rs34053049	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34362539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34367511	0.84[AMR][1000 genomes]
rs34385844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34723472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34809818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34854936	0.84[EUR][1000 genomes]
rs34928238	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34938473	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34954380	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35130602	0.84[AMR][1000 genomes]
rs35268837	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35505895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs35506556	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35849318	0.84[EUR][1000 genomes]
rs35899177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71546629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71546630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71546632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71546635	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71546636	0.88[EUR][1000 genomes]
rs71548605	0.84[AMR][1000 genomes]
rs7349990	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7795457	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9638936	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016355	chr7:38168232-38372719	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv830963	chr7:38172988-38344779	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv2762664	chr7:38201814-38228480	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	esv2758112	chr7:38218703-38523455	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	esv2759524	chr7:38218703-38523455	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv427776	chr7:38218703-38523455	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv830964	chr7:38218708-38390518	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38217200-38220600	Flanking Active TSS	Primary hematopoietic stem cells	blood
2	chr7:38218400-38220800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr7:38218400-38223400	Weak transcription	Small Intestine	intestine
4	chr7:38218400-38225000	Weak transcription	Gastric	stomach
5	chr7:38218600-38220600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr7:38218600-38221000	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr7:38218600-38221200	Flanking Active TSS	HUVEC	blood vessel
8	chr7:38218600-38221600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:38218600-38222400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:38218600-38224000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:38218600-38226200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr7:38218600-38226600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:38218600-38259200	Weak transcription	Colonic Mucosa	Colon
14	chr7:38218800-38220600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:38218800-38220600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr7:38218800-38221600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr7:38218800-38223000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr7:38218800-38227400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr7:38218800-38227800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:38218800-38227800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr7:38219000-38220600	Enhancers	Primary B cells from cord blood	blood
22	chr7:38219000-38220800	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr7:38219000-38221000	Enhancers	Primary T cells from cord blood	blood
24	chr7:38219200-38225000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr7:38219200-38225000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:38219200-38226200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr7:38219200-38226600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr7:38219400-38224800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr7:38219600-38221400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr7:38219600-38221400	Enhancers	Brain Germinal Matrix	brain
31	chr7:38219600-38222000	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr7:38219600-38222200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr7:38219600-38225000	Weak transcription	Primary B cells from peripheral blood	blood
34	chr7:38219600-38225000	Weak transcription	Right Atrium	heart
35	chr7:38219600-38225600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr7:38219600-38226200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr7:38219600-38241400	Weak transcription	Fetal Intestine Large	intestine
38	chr7:38219800-38220600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr7:38219800-38220800	Enhancers	Fetal Brain Female	brain
40	chr7:38219800-38221600	Enhancers	Adipose Nuclei	Adipose
41	chr7:38219800-38222200	Weak transcription	Fetal Muscle Leg	muscle
42	chr7:38219800-38223000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:38219800-38224600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr7:38219800-38225000	Weak transcription	Pancreas	Pancrea
45	chr7:38219800-38225400	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr7:38219800-38226200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr7:38219800-38227800	Weak transcription	Lung	lung
48	chr7:38219800-38234600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr7:38220000-38220600	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr7:38220000-38220800	Enhancers	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links