Variant report

Variant	rs7331814
Chromosome Location	chr13:95222544-95222545
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1112370	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1408999	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2275647	0.99[ASN][1000 genomes]
rs2275648	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2298058	0.96[ASN][1000 genomes]
rs34350725	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34405130	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35253817	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35678857	0.99[ASN][1000 genomes]
rs3742107	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3897473	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3897474	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4473052	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4489873	0.99[ASN][1000 genomes]
rs4608209	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4773801	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6492716	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6492717	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6492718	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7321239	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7330873	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7339106	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7981788	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7991607	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7997035	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7997333	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7998025	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9301979	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9301981	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9301983	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9516434	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9516437	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9516438	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9516440	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9516441	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9516443	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9516445	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9524544	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9524545	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9524547	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9524548	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9524549	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9524550	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9524551	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9524553	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9524554	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9524555	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9524556	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9524557	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9524559	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9556402	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9556403	0.99[ASN][1000 genomes]
rs9556405	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9561638	0.99[ASN][1000 genomes]
rs9561642	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9590037	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34004	chr13:94906537-95392644	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv562756	chr13:95178317-95238154	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv832685	chr13:95179676-95279966	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv832686	chr13:95206742-95400992	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs7331814	GPR180	cis	Skin Sun Exposed Lower leg	GTEx
rs7331814	GPR180	cis	Stomach	GTEx
rs7331814	GPR180	cis	Adipose Subcutaneous	GTEx
rs7331814	GPR180	cis	Muscle Skeletal	GTEx
rs7331814	GPR180	cis	lung	GTEx
rs7331814	GPR180	cis	Nerve Tibial	GTEx
rs7331814	GPR180	cis	Artery Tibial	GTEx
rs7331814	GPR180	cis	Whole Blood	GTEx
rs7331814	GPR180	cis	Esophagus Mucosa	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95202800-95223600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:95203400-95222600	Weak transcription	A549	lung
3	chr13:95209200-95222600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr13:95209400-95225000	Weak transcription	HepG2	liver
5	chr13:95209800-95223000	Weak transcription	HUVEC	blood vessel
6	chr13:95210800-95225000	Weak transcription	K562	blood
7	chr13:95211400-95223000	Weak transcription	Small Intestine	intestine
8	chr13:95211800-95224000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr13:95212200-95223600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr13:95212400-95222800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr13:95212400-95223400	Weak transcription	HSMM	muscle
12	chr13:95212600-95223600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr13:95212800-95225000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr13:95213200-95222800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr13:95213600-95222800	Weak transcription	Right Ventricle	heart
16	chr13:95213800-95222600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr13:95215000-95235400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:95217800-95225400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr13:95218000-95223000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr13:95218000-95223200	Weak transcription	NHEK	skin
21	chr13:95218200-95223200	Weak transcription	NHLF	lung
22	chr13:95218400-95232800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr13:95218800-95222800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr13:95219000-95222600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr13:95219200-95222800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr13:95219200-95238200	Strong transcription	Primary T cells from cord blood	blood
27	chr13:95219400-95223000	Weak transcription	Brain Substantia Nigra	brain
28	chr13:95219600-95223000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr13:95219600-95237000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr13:95219600-95245600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr13:95219800-95222600	Weak transcription	Colonic Mucosa	Colon
32	chr13:95220200-95225600	Strong transcription	Primary B cells from cord blood	blood
33	chr13:95220600-95224200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr13:95220600-95227800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr13:95220800-95222600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr13:95220800-95222600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr13:95220800-95223000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr13:95220800-95223400	Weak transcription	Brain Angular Gyrus	brain
39	chr13:95220800-95225600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr13:95220800-95226200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr13:95220800-95227800	Strong transcription	Thymus	Thymus
42	chr13:95220800-95229200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr13:95220800-95231000	Strong transcription	Liver	Liver
44	chr13:95220800-95237000	Strong transcription	GM12878-XiMat	blood
45	chr13:95220800-95237600	Strong transcription	Fetal Intestine Large	intestine
46	chr13:95221000-95223000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr13:95221000-95223600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr13:95221000-95223600	Weak transcription	Stomach Mucosa	stomach
49	chr13:95221000-95226200	Strong transcription	Fetal Stomach	stomach
50	chr13:95221000-95237000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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