Variant report

Variant	rs1196810
Chromosome Location	chr12:105532811-105532812
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105532349..105534370-chr12:105534531..105536816,2	K562	blood:
2	chr12:105520638..105523143-chr12:105531748..105534535,2	K562	blood:
3	chr12:105530759..105533680-chr12:105536719..105539215,3	K562	blood:

Variant related genes	Relation type
ENSG00000136051	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11610656	0.85[ASN][1000 genomes]
rs1196750	0.85[ASN][1000 genomes]
rs1196766	0.83[ASN][1000 genomes]
rs1196767	0.83[ASN][1000 genomes]
rs1196803	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1196804	0.98[ASN][1000 genomes]
rs1196809	0.99[ASN][1000 genomes]
rs1196812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1196814	0.99[ASN][1000 genomes]
rs1196816	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1196821	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1196822	0.98[ASN][1000 genomes]
rs1196826	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1196827	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1196828	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1196829	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1196835	0.94[ASN][1000 genomes]
rs1196836	0.96[ASN][1000 genomes]
rs1196837	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1196838	0.96[ASN][1000 genomes]
rs1196840	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1196843	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1196846	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1196850	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1196854	0.94[ASN][1000 genomes]
rs1196855	0.88[AFR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1196856	0.94[ASN][1000 genomes]
rs1196858	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1196860	0.94[ASN][1000 genomes]
rs1196865	0.96[ASN][1000 genomes]
rs1196866	0.96[ASN][1000 genomes]
rs1196867	0.96[ASN][1000 genomes]
rs1196868	0.96[ASN][1000 genomes]
rs1196870	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1196876	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1196877	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1196878	0.98[ASN][1000 genomes]
rs1201657	0.93[ASN][1000 genomes]
rs1201658	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1732371	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1732378	0.92[ASN][1000 genomes]
rs1732379	0.93[ASN][1000 genomes]
rs1732384	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2264066	0.94[ASN][1000 genomes]
rs2440713	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2440717	0.98[ASN][1000 genomes]
rs2440719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9143	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832506	chr12:105461274-105637561	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	esv1826054	chr12:105505809-105568176	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1049296	chr12:105518764-105566079	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	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	chr12:105503800-105544200	Weak transcription	Aorta	Aorta
2	chr12:105505200-105542600	Strong transcription	Fetal Thymus	thymus
3	chr12:105505200-105559800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:105505200-105564000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr12:105505200-105567400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:105505200-105573000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:105505600-105535200	Strong transcription	Muscle Satellite Cultured Cells	--
8	chr12:105505600-105537200	Strong transcription	Osteobl	bone
9	chr12:105505600-105550000	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr12:105505600-105573200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:105505800-105571400	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr12:105506000-105536800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:105506000-105537200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr12:105506400-105544600	Strong transcription	NHDF-Ad	bronchial
15	chr12:105506400-105573000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:105506600-105549200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr12:105506800-105568800	Strong transcription	Dnd41	blood
18	chr12:105506800-105572400	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr12:105507000-105573200	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr12:105507200-105571400	Strong transcription	Primary B cells from peripheral blood	blood
21	chr12:105507400-105565600	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr12:105507600-105571400	Strong transcription	HUVEC	blood vessel
23	chr12:105507600-105572800	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr12:105507800-105563800	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr12:105507800-105573200	Strong transcription	Placenta	Placenta
26	chr12:105508000-105549200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr12:105508000-105550400	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr12:105508000-105565400	Strong transcription	Adipose Nuclei	Adipose
29	chr12:105508200-105572800	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr12:105508400-105562000	Strong transcription	Primary B cells from cord blood	blood
31	chr12:105508600-105536600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:105508600-105573000	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr12:105508800-105565000	Strong transcription	Liver	Liver
34	chr12:105510000-105565200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:105513800-105567800	Weak transcription	Pancreas	Pancrea
36	chr12:105514800-105533400	Weak transcription	NHEK	skin
37	chr12:105515200-105557600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr12:105517600-105540600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr12:105517800-105555200	Weak transcription	Small Intestine	intestine
40	chr12:105518600-105573200	Strong transcription	HSMM	muscle
41	chr12:105519400-105558400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr12:105520000-105550000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr12:105521800-105536000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr12:105522600-105534600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr12:105522600-105557600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr12:105522600-105586000	Weak transcription	Stomach Mucosa	stomach
47	chr12:105522800-105538000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr12:105522800-105548200	Weak transcription	Brain Angular Gyrus	brain
49	chr12:105523000-105534600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr12:105523800-105534400	Weak transcription	Brain Inferior Temporal Lobe	brain

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