Variant report

Variant	rs10850968
Chromosome Location	chr12:118855072-118855073
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:118843686..118846621-chr12:118854145..118856022,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10850969	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10850970	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11068880	0.94[CHB][hapmap]
rs11068891	0.88[CHB][hapmap];0.88[CHD][hapmap];0.87[JPT][hapmap]
rs11068893	0.94[CHB][hapmap]
rs11068898	0.94[CHB][hapmap];0.94[CHD][hapmap];0.92[GIH][hapmap]
rs11068900	0.94[CHB][hapmap]
rs11068901	0.94[CHB][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap]
rs11068904	0.88[CHB][hapmap]
rs11068908	0.88[CHB][hapmap];0.94[CHD][hapmap];0.87[JPT][hapmap]
rs11068909	0.94[CHB][hapmap];0.91[CHD][hapmap];0.92[GIH][hapmap]
rs11068915	0.94[CHB][hapmap]
rs11068916	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs11068917	0.88[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap]
rs11068919	0.94[CHB][hapmap];0.93[JPT][hapmap]
rs11068923	1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs11068924	0.81[ASN][1000 genomes]
rs11068930	0.84[ASN][1000 genomes]
rs11068933	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11068937	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11068940	0.93[ASN][1000 genomes]
rs11068941	0.93[ASN][1000 genomes]
rs11068943	0.91[ASN][1000 genomes]
rs11068945	0.93[ASN][1000 genomes]
rs12227411	0.88[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap]
rs12227974	0.94[CHB][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap]
rs12228425	0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap]
rs12230104	0.84[ASN][1000 genomes]
rs16948250	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs17586582	0.94[CHB][hapmap]
rs17619702	0.93[CHB][hapmap]
rs17619805	0.94[CHB][hapmap]
rs17619932	0.88[CHB][hapmap];0.97[CHD][hapmap];0.93[JPT][hapmap]
rs2062519	0.80[LWK][hapmap]
rs2062520	0.81[ASN][1000 genomes]
rs2271007	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4766899	0.80[LWK][hapmap]
rs56080343	0.90[ASN][1000 genomes]
rs61943370	0.80[ASN][1000 genomes]
rs61943371	0.80[ASN][1000 genomes]
rs7968371	0.84[AFR][1000 genomes]
rs7974718	0.88[CHB][hapmap];0.87[JPT][hapmap]
rs9888447	0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv899547	chr12:118791441-118896304	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10850968	SUDS3	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118815800-118855200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:118816000-118862000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:118816200-118863400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr12:118816400-118855400	Strong transcription	Fetal Muscle Trunk	muscle
5	chr12:118816800-118855200	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr12:118816800-118855400	Strong transcription	Primary T cells from cord blood	blood
7	chr12:118816800-118856600	Strong transcription	Placenta	Placenta
8	chr12:118817000-118855600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:118817000-118856000	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr12:118817200-118855400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr12:118817200-118856600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:118817200-118856600	Strong transcription	Fetal Intestine Large	intestine
13	chr12:118817400-118855200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:118817400-118855400	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr12:118822000-118856200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:118830000-118856800	Strong transcription	Adipose Nuclei	Adipose
17	chr12:118830800-118857400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr12:118836200-118856800	Strong transcription	Fetal Muscle Leg	muscle
19	chr12:118840400-118856000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr12:118841000-118856200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:118843400-118855200	Strong transcription	Fetal Stomach	stomach
22	chr12:118843600-118855200	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr12:118846000-118855800	Strong transcription	Primary B cells from peripheral blood	blood
24	chr12:118846600-118856000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:118847200-118855200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:118847200-118855200	Strong transcription	Placenta Amnion	Placenta Amnion
27	chr12:118847200-118856400	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr12:118847400-118857000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr12:118847600-118855200	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr12:118847600-118855200	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr12:118847600-118855800	Strong transcription	A549	lung
32	chr12:118848400-118856000	Strong transcription	Primary hematopoietic stem cells	blood
33	chr12:118848800-118857400	Strong transcription	Duodenum Mucosa	Duodenum
34	chr12:118849200-118855600	Weak transcription	Hela-S3	cervix
35	chr12:118850400-118860400	Weak transcription	Fetal Brain Male	brain
36	chr12:118850800-118855200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:118850800-118855200	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr12:118850800-118856400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr12:118850800-118856600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:118850800-118856600	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr12:118851000-118855200	Strong transcription	Brain Hippocampus Middle	brain
42	chr12:118851400-118857200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr12:118851600-118855800	Weak transcription	Stomach Mucosa	stomach
44	chr12:118851800-118856400	Strong transcription	Fetal Lung	lung
45	chr12:118852200-118860200	Weak transcription	NHDF-Ad	bronchial
46	chr12:118852600-118864600	Weak transcription	HSMMtube	muscle
47	chr12:118852800-118857000	Weak transcription	K562	blood
48	chr12:118853200-118855200	Strong transcription	Rectal Smooth Muscle	rectum
49	chr12:118853200-118865400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr12:118853400-118855600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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