Variant report

Variant	rs62262114
Chromosome Location	chr3:49999086-49999087
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11130222	0.84[ASN][1000 genomes]
rs11706185	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11709503	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11709573	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11712056	0.82[ASN][1000 genomes]
rs11714324	0.88[ASN][1000 genomes]
rs11721204	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12634780	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13077403	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13079006	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13082703	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17657664	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17657688	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2352969	0.95[ASN][1000 genomes]
rs2352984	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2526747	0.80[ASN][1000 genomes]
rs2526750	0.81[AMR][1000 genomes]
rs2624815	0.80[ASN][1000 genomes]
rs2624819	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2624821	0.91[ASN][1000 genomes]
rs2624832	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2681776	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2681779	0.84[ASN][1000 genomes]
rs2883059	0.84[ASN][1000 genomes]
rs34034116	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs34312088	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34654589	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs35275715	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs36022378	0.81[ASN][1000 genomes]
rs3733134	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3774759	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3796386	0.84[ASN][1000 genomes]
rs4688688	0.88[ASN][1000 genomes]
rs4688753	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4688754	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs55692411	0.85[ASN][1000 genomes]
rs6446195	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6762477	0.80[ASN][1000 genomes]
rs6774354	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6793528	0.80[ASN][1000 genomes]
rs7430334	0.80[ASN][1000 genomes]
rs7613360	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7615206	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7626952	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7627864	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7627910	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7634441	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7648174	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs868891	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs952594	0.85[ASN][1000 genomes]
rs9682295	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv876767	chr3:49918751-50153356	Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv834689	chr3:49962930-50085119	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv965334	chr3:49967342-50000012	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
5	nsv1012903	chr3:49978765-50071878	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs62262114	RBM6	cis	Heart Left Ventricle	GTEx
rs62262114	RBM6	Cis_1M	lymphoblastoid	RTeQTL
rs62262114	RBM6	cis	Artery Aorta	GTEx
rs62262114	RBM6	cis	Nerve Tibial	GTEx
rs62262114	RBM6	cis	Whole Blood	GTEx
rs62262114	RBM6	cis	lung	GTEx
rs62262114	RBM6	cis	Artery Tibial	GTEx
rs62262114	RBM6	cis	Thyroid	GTEx
rs62262114	RBM6	cis	Esophagus Muscularis	GTEx
rs62262114	RBM6	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49978800-50000600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr3:49978800-50004800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr3:49978800-50009600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr3:49978800-50009600	Weak transcription	Fetal Kidney	kidney
5	chr3:49978800-50041000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr3:49979000-50000000	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr3:49979000-50000600	Weak transcription	Primary T cells from cord blood	blood
8	chr3:49979000-50001000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr3:49979000-50003400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:49979000-50003600	Weak transcription	Right Ventricle	heart
11	chr3:49979000-50005200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr3:49979000-50010200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:49979400-49999600	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr3:49979400-50000400	Weak transcription	Brain Germinal Matrix	brain
15	chr3:49979600-49999800	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr3:49979600-50004200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr3:49980400-50003600	Weak transcription	Brain Angular Gyrus	brain
18	chr3:49980600-49999600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:49980600-50000000	Weak transcription	Dnd41	blood
20	chr3:49980600-50001800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr3:49981400-49999800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr3:49981600-49999600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:49983800-49999200	Weak transcription	Fetal Muscle Leg	muscle
24	chr3:49983800-50003400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr3:49984000-50000400	Weak transcription	Fetal Intestine Large	intestine
26	chr3:49985600-50000600	Weak transcription	Primary B cells from cord blood	blood
27	chr3:49986000-50000600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr3:49988000-50000600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr3:49988000-50003000	Weak transcription	NHEK	skin
30	chr3:49988000-50003600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr3:49988000-50004200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr3:49988200-50007000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr3:49988200-50007400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr3:49988200-50010200	Weak transcription	Gastric	stomach
35	chr3:49988200-50010600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr3:49988400-50001200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr3:49988400-50001200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr3:49988400-50001800	Weak transcription	HSMM	muscle
39	chr3:49988400-50009600	Weak transcription	Fetal Brain Female	brain
40	chr3:49988400-50009600	Weak transcription	HUVEC	blood vessel
41	chr3:49988600-50000000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr3:49988600-50000600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr3:49988600-50001000	Weak transcription	GM12878-XiMat	blood
44	chr3:49988600-50001000	Weak transcription	Hela-S3	cervix
45	chr3:49988800-49999600	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr3:49988800-50000800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr3:49988800-50004800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr3:49989000-50004000	Weak transcription	Pancreas	Pancrea
49	chr3:49989800-50001400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr3:49990200-49999800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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