Variant report

Variant	rs10253131
Chromosome Location	chr7:128249463-128249464
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10085435	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10224862	0.84[EUR][1000 genomes]
rs10227608	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10231136	0.82[AFR][1000 genomes]
rs10233059	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10241185	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10242806	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10250369	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10259359	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10261037	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10269844	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10270431	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10270985	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10272840	0.84[AFR][1000 genomes]
rs10274878	0.83[AMR][1000 genomes]
rs10276810	0.82[EUR][1000 genomes]
rs10954205	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11760285	0.89[ASN][1000 genomes]
rs11761312	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11761662	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11766319	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11768485	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11769546	0.89[ASN][1000 genomes]
rs11770604	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11771884	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12333625	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12530672	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12535238	0.84[EUR][1000 genomes]
rs12537208	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13224613	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13233377	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13235219	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13237593	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13246302	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28496126	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28521260	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28521711	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs339070	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs339079	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs339093	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs34120723	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34125589	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34490491	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34751214	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34757247	0.87[AFR][1000 genomes]
rs34887739	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34942906	0.94[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs34960471	0.86[AFR][1000 genomes]
rs35247963	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35603038	0.91[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs35825132	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35871589	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3816421	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4289745	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55953818	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60029447	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6467181	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6467184	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6467201	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467205	0.84[EUR][1000 genomes]
rs6943737	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6946179	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6958343	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6960296	0.91[EUR][1000 genomes]
rs6961754	1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs6963982	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6967393	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6969343	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6971819	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6972787	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6976879	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs6977126	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs71546785	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71546786	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71546790	0.92[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs71548762	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71578280	0.89[ASN][1000 genomes]
rs7776915	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7777625	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7778169	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7778731	0.83[EUR][1000 genomes]
rs7786772	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7787764	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7790478	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7790839	0.80[AFR][1000 genomes]
rs7794447	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs7798172	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7804472	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs7810047	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs7811083	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9690225	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9690934	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9692416	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9768808	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9769753	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]

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	nsv427806	chr7:128179989-128428182	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv966885	chr7:128212815-128256300	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs10253131	CICP14	cis	Thyroid	GTEx
rs10253131	METTL2B	cis	Skin Sun Exposed Lower leg	GTEx
rs10253131	RP11-274B21.10	cis	Thyroid	GTEx
rs10253131	RP11-274B21.10	cis	Esophagus Muscularis	GTEx
rs10253131	CICP14	cis	lung	GTEx
rs10253131	CICP14	cis	Muscle Skeletal	GTEx
rs10253131	METTL2B	cis	Artery Tibial	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128200000-128258800	Weak transcription	Right Ventricle	heart
2	chr7:128204800-128258800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:128223800-128258800	Weak transcription	Lung	lung
4	chr7:128226400-128258800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:128233200-128258800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:128233200-128258800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:128233400-128258400	Weak transcription	Thymus	Thymus
8	chr7:128233400-128258600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:128233400-128258800	Weak transcription	Aorta	Aorta
10	chr7:128233400-128258800	Weak transcription	Esophagus	oesophagus
11	chr7:128233400-128258800	Weak transcription	Spleen	Spleen
12	chr7:128233400-128259000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr7:128233400-128259000	Weak transcription	Colon Smooth Muscle	Colon
14	chr7:128233400-128259600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr7:128233400-128272000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:128233600-128258800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr7:128233800-128257600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr7:128233800-128258800	Weak transcription	Fetal Brain Female	brain
19	chr7:128234600-128257600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr7:128234600-128258800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:128234600-128258800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr7:128234600-128258800	Weak transcription	Gastric	stomach
23	chr7:128234600-128271200	Weak transcription	Fetal Lung	lung
24	chr7:128235000-128253800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr7:128235600-128258800	Weak transcription	Pancreas	Pancrea
26	chr7:128235800-128250200	Weak transcription	Left Ventricle	heart
27	chr7:128236000-128251000	Weak transcription	Placenta	Placenta
28	chr7:128237600-128256600	Weak transcription	Fetal Muscle Leg	muscle
29	chr7:128237600-128258600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr7:128237800-128290400	Weak transcription	HepG2	liver
31	chr7:128238200-128258800	Weak transcription	Ovary	ovary
32	chr7:128239200-128256000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr7:128239200-128287200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr7:128239200-128296400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr7:128239400-128258800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr7:128239400-128271200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr7:128239600-128250600	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr7:128239600-128258800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr7:128239600-128262400	Weak transcription	Brain Hippocampus Middle	brain
40	chr7:128239800-128257600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr7:128239800-128258800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr7:128240000-128255600	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr7:128240000-128258800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr7:128240200-128269400	Weak transcription	Primary B cells from cord blood	blood
45	chr7:128240400-128253400	Weak transcription	Brain Substantia Nigra	brain
46	chr7:128240400-128258800	Weak transcription	Primary T cells from cord blood	blood
47	chr7:128241800-128250200	Weak transcription	Fetal Thymus	thymus
48	chr7:128242600-128292800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr7:128246200-128254000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr7:128246600-128251800	Weak transcription	Primary T cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links