Variant report

Variant	rs7130431
Chromosome Location	chr11:113238223-113238224
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:113234115..113236597-chr11:113236900..113239444,2	K562	blood:
2	chr11:113236279..113238719-chr11:113247616..113250080,2	K562	blood:

Variant related genes	Relation type
ENSG00000149292	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1055075	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1055076	0.86[CHB][hapmap];0.91[CHD][hapmap];0.80[ASN][1000 genomes]
rs10891543	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10891546	0.82[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs11214579	0.81[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs12282356	0.81[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs12285457	0.80[ASN][1000 genomes]
rs17115439	0.82[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs1893696	0.81[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs2155464	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2282511	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2298489	0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2298490	0.85[ASN][1000 genomes]
rs2303380	0.81[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs3897584	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4601821	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4938009	0.90[YRI][hapmap]
rs4938012	0.82[CHB][hapmap];0.82[JPT][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4938013	0.82[CHB][hapmap];0.84[GIH][hapmap];0.82[JPT][hapmap];0.85[LWK][hapmap];0.91[MEX][hapmap];0.90[MKK][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs4938015	0.82[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs6589375	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7109196	0.82[JPT][hapmap]
rs7114433	0.81[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs7115082	0.85[ASN][1000 genomes]
rs7123797	0.82[CHB][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs719802	0.84[CHD][hapmap]
rs719804	0.90[YRI][hapmap]
rs7945132	0.82[CHB][hapmap];0.82[JPT][hapmap];0.90[YRI][hapmap];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs877138	1.00[ASW][hapmap];0.88[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.88[GIH][hapmap];0.82[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.82[TSI][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv556444	chr11:113234432-113383394	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs7130431	TTC12	cis	Heart Left Ventricle	GTEx
rs7130431	TTC12	cis	Esophagus Muscularis	GTEx
rs7130431	TTC12	cis	lung	GTEx
rs7130431	TTC12	cis	multi-tissue	Pritchard
rs7130431	TTC12	cis	Muscle Skeletal	GTEx
rs7130431	TTC12	cis	cerebellum	SCAN
rs7130431	TTC12	cis	parietal	SCAN

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:113195600-113240600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:113203200-113248200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:113204000-113240600	Weak transcription	Stomach Mucosa	stomach
4	chr11:113208600-113239000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:113210600-113243600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr11:113213000-113243000	Weak transcription	NHLF	lung
7	chr11:113215400-113243600	Weak transcription	Osteobl	bone
8	chr11:113222600-113238400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:113226600-113242400	Strong transcription	Stomach Smooth Muscle	stomach
10	chr11:113227000-113238600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr11:113227000-113239400	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr11:113227400-113239800	Strong transcription	Liver	Liver
13	chr11:113227400-113241200	Weak transcription	Psoas Muscle	Psoas
14	chr11:113227800-113241000	Strong transcription	Adipose Nuclei	Adipose
15	chr11:113228000-113239400	Strong transcription	Skeletal Muscle Male	skeletal muscle
16	chr11:113228200-113239600	Strong transcription	Primary B cells from peripheral blood	blood
17	chr11:113228400-113239400	Strong transcription	Left Ventricle	heart
18	chr11:113228400-113239600	Strong transcription	Fetal Muscle Leg	muscle
19	chr11:113228400-113240200	Strong transcription	Fetal Muscle Trunk	muscle
20	chr11:113228400-113240800	Strong transcription	Fetal Intestine Large	intestine
21	chr11:113228600-113239400	Strong transcription	Aorta	Aorta
22	chr11:113228600-113241600	Strong transcription	Fetal Intestine Small	intestine
23	chr11:113229000-113239400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr11:113229200-113240400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr11:113229200-113246800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr11:113229400-113246600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr11:113229800-113243800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:113230200-113238400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:113230200-113239800	Weak transcription	Primary B cells from cord blood	blood
30	chr11:113230400-113241000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:113230400-113243800	Weak transcription	HSMMtube	muscle
32	chr11:113230600-113246400	Weak transcription	Fetal Heart	heart
33	chr11:113231800-113246000	Weak transcription	Fetal Brain Male	brain
34	chr11:113232000-113243800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:113232200-113257400	Weak transcription	Small Intestine	intestine
36	chr11:113233200-113240000	Strong transcription	Brain Anterior Caudate	brain
37	chr11:113233400-113239400	Strong transcription	Lung	lung
38	chr11:113233400-113239800	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr11:113233400-113240000	Strong transcription	Brain Substantia Nigra	brain
40	chr11:113233400-113240000	Strong transcription	Gastric	stomach
41	chr11:113233400-113240200	Strong transcription	Spleen	Spleen
42	chr11:113233600-113238400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr11:113233800-113239600	Strong transcription	Fetal Stomach	stomach
44	chr11:113233800-113241400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr11:113234200-113239000	Enhancers	Fetal Thymus	thymus
46	chr11:113234800-113239600	Strong transcription	NHEK	skin
47	chr11:113235000-113240000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr11:113235000-113243600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:113235200-113239600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:113235400-113243000	Weak transcription	HSMM	muscle

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