Variant report

Variant	rs12785381
Chromosome Location	chr11:36419929-36419930
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	UBTF	chr11:36419915-36420178	K562	blood:	n/a	n/a
2	MAZ	chr11:36419886-36420275	K562	blood:	n/a	chr11:36420132-36420141
3	MAFK	chr11:36419757-36420326	K562	blood:	n/a	n/a

Variant related genes	Relation type
PRR5L	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10836550	0.84[CEU][hapmap];0.85[GIH][hapmap]
rs10836552	0.84[CEU][hapmap]
rs10836553	0.84[CEU][hapmap];0.85[CHB][hapmap]
rs11033596	0.84[CEU][hapmap];0.85[GIH][hapmap]
rs11033597	0.84[CEU][hapmap];0.85[GIH][hapmap]
rs12274403	0.84[CEU][hapmap]
rs12801831	0.84[CEU][hapmap]
rs12802487	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1895838	0.83[CEU][hapmap]
rs1895840	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2592557	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs330261	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs330262	0.95[EUR][1000 genomes]
rs330264	0.84[CEU][hapmap];0.85[GIH][hapmap]
rs34123410	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34567008	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34967145	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756309	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56898445	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6484844	0.83[CEU][hapmap]
rs6484846	0.84[CEU][hapmap]
rs6484848	0.84[CEU][hapmap]
rs6484850	0.84[CEU][hapmap];0.85[CHB][hapmap]
rs68181316	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7112360	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7112523	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7112712	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7112777	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7112877	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7113083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7116884	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7120381	0.85[CEU][hapmap];0.82[CHB][hapmap]
rs71481974	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs734902	0.84[CEU][hapmap];0.85[GIH][hapmap]
rs734903	0.84[CEU][hapmap]
rs734904	0.84[CEU][hapmap];1.00[CHB][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	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12785381	SNX7	trans	lymphoblastoid	seeQTL

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36400000-36425200	Weak transcription	Fetal Kidney	kidney
2	chr11:36400000-36425600	Weak transcription	HUVEC	blood vessel
3	chr11:36400200-36475400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:36400600-36431200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr11:36400800-36443600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr11:36401000-36420200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr11:36402000-36424200	Weak transcription	Left Ventricle	heart
8	chr11:36402000-36431800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr11:36403000-36438200	Weak transcription	Ovary	ovary
10	chr11:36407200-36441800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr11:36407400-36425800	Weak transcription	Small Intestine	intestine
12	chr11:36408400-36433000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:36409800-36430000	Weak transcription	Liver	Liver
14	chr11:36412000-36427600	Weak transcription	Placenta	Placenta
15	chr11:36413000-36420000	Weak transcription	Esophagus	oesophagus
16	chr11:36413000-36420800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:36413000-36471000	Weak transcription	Aorta	Aorta
18	chr11:36413200-36441600	Weak transcription	HSMMtube	muscle
19	chr11:36413400-36430000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr11:36413800-36428400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr11:36414200-36426000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr11:36414800-36421000	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr11:36414800-36428800	Weak transcription	Stomach Mucosa	stomach
24	chr11:36414800-36475600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr11:36415000-36429800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:36415200-36421000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr11:36415400-36429400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:36416000-36422600	Weak transcription	Thymus	Thymus
29	chr11:36416200-36420400	Weak transcription	Primary B cells from peripheral blood	blood
30	chr11:36416200-36421000	Weak transcription	GM12878-XiMat	blood
31	chr11:36416200-36421200	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr11:36416400-36420000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr11:36416400-36421000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr11:36416600-36420200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr11:36416600-36420200	Weak transcription	Fetal Thymus	thymus
36	chr11:36416600-36422800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:36416600-36431600	Weak transcription	Stomach Smooth Muscle	stomach
38	chr11:36416800-36421000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr11:36416800-36422200	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr11:36417000-36421400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr11:36417200-36422400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr11:36417400-36424400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:36417600-36429000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:36417800-36420000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr11:36418000-36420000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr11:36418200-36425000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:36418200-36436800	Weak transcription	Pancreas	Pancrea
48	chr11:36418400-36420000	Weak transcription	Adipose Nuclei	Adipose
49	chr11:36418400-36420000	Enhancers	Brain Substantia Nigra	brain
50	chr11:36418400-36420800	Weak transcription	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links