Variant report

Variant	rs2980631
Chromosome Location	chr8:110317735-110317736
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 159 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:156)

rs_ID	r²[population]
rs10091155	0.86[EUR][1000 genomes]
rs10100690	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10464819	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10464848	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10464849	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10955511	0.87[EUR][1000 genomes]
rs10955513	0.87[EUR][1000 genomes]
rs10955514	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11995419	0.87[EUR][1000 genomes]
rs12546169	0.81[EUR][1000 genomes]
rs12546985	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12674513	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12674533	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12679958	0.87[EUR][1000 genomes]
rs12680451	0.87[EUR][1000 genomes]
rs12682610	0.86[EUR][1000 genomes]
rs13251321	0.87[EUR][1000 genomes]
rs13251597	0.87[EUR][1000 genomes]
rs1380096	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1380097	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1380098	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1380099	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1458915	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1458916	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1458917	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1458921	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1458922	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1458924	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1458925	0.84[ASN][1000 genomes]
rs1458926	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1458927	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1548082	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1548083	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1585295	0.87[EUR][1000 genomes]
rs1585296	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1585297	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17364037	0.84[ASN][1000 genomes]
rs1947630	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1947631	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2007179	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2054255	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2067780	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2085628	0.90[EUR][1000 genomes]
rs2085629	0.90[EUR][1000 genomes]
rs2125512	0.89[EUR][1000 genomes]
rs2168965	0.89[EUR][1000 genomes]
rs2199122	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28407429	0.87[EUR][1000 genomes]
rs2882176	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28870477	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2926191	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2926192	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2926198	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2926199	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2926202	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2926203	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2926204	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2926209	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2926213	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2926216	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2926217	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2926218	0.83[ASN][1000 genomes]
rs2926220	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2926222	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2926223	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2926245	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2926246	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2926247	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2926249	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2926250	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2926251	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2926254	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2926255	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2926256	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2926257	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2926258	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2926260	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2926261	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2926264	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2926268	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2926270	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2926271	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2926273	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2926275	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2926276	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2926283	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2980565	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2980587	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2980588	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2980590	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2980592	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2980595	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2980596	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2980598	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2980599	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2980601	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2980603	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2980604	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2980605	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2980608	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2980609	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2980610	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2980612	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2980613	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2980615	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2980616	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2980617	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2980618	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2980622	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2980624	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2980629	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2980633	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2980634	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2980635	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2980638	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34049275	0.87[EUR][1000 genomes]
rs34979579	0.84[ASN][1000 genomes]
rs35850605	0.86[EUR][1000 genomes]
rs3890699	0.87[EUR][1000 genomes]
rs4034230	0.88[EUR][1000 genomes]
rs4130640	0.87[EUR][1000 genomes]
rs4236803	0.87[EUR][1000 genomes]
rs4236804	0.87[EUR][1000 genomes]
rs4257986	0.87[EUR][1000 genomes]
rs4265160	0.87[EUR][1000 genomes]
rs4273834	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4288351	0.87[EUR][1000 genomes]
rs4291240	0.87[EUR][1000 genomes]
rs4311632	0.87[EUR][1000 genomes]
rs4332104	0.87[EUR][1000 genomes]
rs4339614	0.87[EUR][1000 genomes]
rs4389900	0.86[EUR][1000 genomes]
rs4454252	0.87[EUR][1000 genomes]
rs4570131	0.87[EUR][1000 genomes]
rs4604407	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4734203	0.87[EUR][1000 genomes]
rs4734204	0.87[EUR][1000 genomes]
rs4734205	0.87[EUR][1000 genomes]
rs4734209	0.80[ASN][1000 genomes]
rs4734210	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4735114	0.87[EUR][1000 genomes]
rs4735116	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4735118	0.88[EUR][1000 genomes]
rs4735121	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4735122	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55765942	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62511091	0.86[EUR][1000 genomes]
rs6469245	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6988041	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6998731	0.87[EUR][1000 genomes]
rs6998883	0.87[EUR][1000 genomes]
rs7008174	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs720574	0.85[ASN][1000 genomes]
rs7817746	0.86[EUR][1000 genomes]
rs7817909	0.87[EUR][1000 genomes]
rs922044	0.86[EUR][1000 genomes];0.80[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	nsv891273	chr8:110219735-110475874	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv891275	chr8:110224047-110319234	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv891279	chr8:110268104-110450092	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2980631	PKHD1L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110236600-110344200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:110284400-110344400	Weak transcription	Fetal Lung	lung
3	chr8:110288600-110344200	Weak transcription	Ovary	ovary
4	chr8:110292000-110333200	Weak transcription	HepG2	liver
5	chr8:110293000-110343600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:110305200-110318200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:110305600-110317800	Weak transcription	Osteobl	bone
8	chr8:110305600-110318200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:110306600-110324800	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr8:110307600-110333000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:110309200-110321200	Weak transcription	Thymus	Thymus
12	chr8:110312000-110344000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:110312200-110317800	Weak transcription	Psoas Muscle	Psoas
14	chr8:110312200-110342800	Weak transcription	Left Ventricle	heart
15	chr8:110312400-110317800	Weak transcription	HMEC	breast
16	chr8:110312400-110327200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr8:110312400-110344200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr8:110314000-110318000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:110315000-110324200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:110315000-110324600	Weak transcription	Fetal Heart	heart
21	chr8:110315200-110318600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:110316800-110318000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr8:110317000-110317800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:110317400-110318800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:110317600-110317800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
26	chr8:110317600-110318600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:110317600-110318800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr8:110317600-110324800	Weak transcription	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links