Variant report

Variant	rs57648519
Chromosome Location	chr3:49813169-49813170
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:49812806..49814691-chr3:49816470..49819799,3	K562	blood:

Extended variants
information (count: 112 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10049413	0.88[ASN][1000 genomes]
rs1049256	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10865958	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10865959	0.88[ASN][1000 genomes]
rs11130214	0.92[ASN][1000 genomes]
rs11130216	0.92[ASN][1000 genomes]
rs11130218	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11130219	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11130221	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1128535	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11709680	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11710675	0.94[ASN][1000 genomes]
rs11714957	0.96[ASN][1000 genomes]
rs11715304	0.91[ASN][1000 genomes]
rs11716575	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11717256	0.92[ASN][1000 genomes]
rs11717463	0.96[ASN][1000 genomes]
rs11920900	0.95[ASN][1000 genomes]
rs12381242	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12490656	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12496226	0.87[ASN][1000 genomes]
rs13063621	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13084243	0.96[ASN][1000 genomes]
rs13085679	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13086130	0.96[ASN][1000 genomes]
rs13086465	0.94[ASN][1000 genomes]
rs13090611	0.88[ASN][1000 genomes]
rs1317140	0.83[ASN][1000 genomes]
rs13316065	0.87[ASN][1000 genomes]
rs1491986	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1799843	0.89[ASN][1000 genomes]
rs1799845	0.89[ASN][1000 genomes]
rs2234385	0.89[ASN][1000 genomes]
rs2234391	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2246832	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2247036	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2271960	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2271961	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2276864	0.88[ASN][1000 genomes]
rs2291542	0.94[ASN][1000 genomes]
rs2307021	0.94[ASN][1000 genomes]
rs2352967	0.87[ASN][1000 genomes]
rs2352974	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2352975	0.88[ASN][1000 genomes]
rs34451146	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34522271	0.96[ASN][1000 genomes]
rs34614773	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34735338	0.94[ASN][1000 genomes]
rs35210174	0.96[ASN][1000 genomes]
rs35261599	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35474403	0.96[ASN][1000 genomes]
rs3749237	0.96[ASN][1000 genomes]
rs3749240	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3749241	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3811695	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3811696	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3819325	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4519692	0.83[ASN][1000 genomes]
rs4768	0.94[ASN][1000 genomes]
rs4855841	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4855850	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4855862	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4855867	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59906301	0.92[ASN][1000 genomes]
rs60205400	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62260715	0.94[ASN][1000 genomes]
rs62260719	0.89[ASN][1000 genomes]
rs62260729	0.88[ASN][1000 genomes]
rs6446295	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6766836	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6775384	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6785549	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6802890	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6804655	0.92[ASN][1000 genomes]
rs695238	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71324996	0.80[ASN][1000 genomes]
rs7372725	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7372730	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7372966	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7374183	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7374277	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7426497	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7429353	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7431078	0.96[ASN][1000 genomes]
rs7431106	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7618501	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7618519	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7629936	0.88[ASN][1000 genomes]
rs7634886	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7634902	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7645061	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7648987	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7649348	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9814765	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9815766	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9819511	0.86[ASN][1000 genomes]
rs9850465	0.86[ASN][1000 genomes]
rs9853458	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9855505	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9859153	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9865480	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9871654	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9872864	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9873183	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9876508	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9882639	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1796352	chr3:49687101-49949959	Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv834688	chr3:49811115-50019299	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv237797	chr3:49811452-49817742	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv237675	chr3:49811454-49817742	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv965165	chr3:49811992-49817515	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv1809827	chr3:49812331-49934179	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs57648519	UBA7	cis	Whole Blood	GTEx
rs57648519	FAM212A	cis	Esophagus Mucosa	GTEx
rs57648519	RBM6	cis	Adipose Subcutaneous	GTEx
rs57648519	RBM6	cis	Esophagus Muscularis	GTEx
rs57648519	RBM6	cis	lung	GTEx
rs57648519	RBM6	cis	Thyroid	GTEx
rs57648519	RBM6	cis	Whole Blood	GTEx
rs57648519	RBM6	Cis_1M	lymphoblastoid	RTeQTL
rs57648519	RBM6	cis	Nerve Tibial	GTEx
rs57648519	RBM6	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49775600-49817000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr3:49775800-49823000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr3:49776400-49818000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:49776400-49818000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr3:49776400-49818200	Weak transcription	Fetal Kidney	kidney
6	chr3:49782600-49814000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:49785600-49822400	Weak transcription	HSMMtube	muscle
8	chr3:49785600-49822600	Weak transcription	Esophagus	oesophagus
9	chr3:49785800-49818000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr3:49786000-49814400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr3:49786000-49823000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr3:49786200-49822400	Weak transcription	HMEC	breast
13	chr3:49786400-49817800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr3:49786600-49817800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr3:49793800-49817600	Weak transcription	Spleen	Spleen
16	chr3:49795000-49818000	Weak transcription	Psoas Muscle	Psoas
17	chr3:49795000-49819000	Weak transcription	Right Ventricle	heart
18	chr3:49795000-49821000	Weak transcription	K562	blood
19	chr3:49795400-49822400	Weak transcription	Stomach Mucosa	stomach
20	chr3:49802400-49818000	Weak transcription	Right Atrium	heart
21	chr3:49804000-49822600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr3:49804200-49816000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr3:49806200-49818800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr3:49806600-49819000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr3:49807600-49817800	Weak transcription	Small Intestine	intestine
26	chr3:49807800-49817800	Weak transcription	NH-A	brain
27	chr3:49807800-49822600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr3:49808000-49814200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr3:49808000-49816600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr3:49808200-49816200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr3:49808200-49818000	Weak transcription	Aorta	Aorta
32	chr3:49808400-49814400	Weak transcription	Brain Germinal Matrix	brain
33	chr3:49808400-49818000	Weak transcription	NHLF	lung
34	chr3:49809000-49813600	Weak transcription	Fetal Lung	lung
35	chr3:49809200-49817800	Strong transcription	Fetal Thymus	thymus
36	chr3:49809200-49818000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr3:49809400-49817800	Weak transcription	GM12878-XiMat	blood
38	chr3:49809400-49822800	Weak transcription	A549	lung
39	chr3:49809600-49813600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr3:49809600-49814400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr3:49809600-49816800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr3:49809600-49822400	Weak transcription	NHDF-Ad	bronchial
43	chr3:49810000-49814600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:49810400-49816800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr3:49810400-49822400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr3:49811200-49815800	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr3:49811800-49814800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr3:49812000-49813200	Enhancers	Stomach Smooth Muscle	stomach
49	chr3:49812000-49813200	Strong transcription	Dnd41	blood
50	chr3:49812000-49813200	Strong transcription	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links