Variant report

Variant	rs9814765
Chromosome Location	chr3:49818555-49818556
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:49816078..49819977-chr3:49822757..49825335,4	MCF-7	breast:
2	chr3:49811337..49813407-chr3:49816815..49819575,2	MCF-7	breast:
3	chr3:49812806..49814691-chr3:49816470..49819799,3	K562	blood:
4	chr3:49810586..49813373-chr3:49816346..49818932,2	K562	blood:
5	chr3:49816140..49820070-chr3:49823380..49825359,3	K562	blood:
6	chr3:49816042..49818807-chr3:49821641..49823960,2	MCF-7	breast:
7	chr3:49816876..49821411-chr3:49821519..49825209,5	K562	blood:

Variant related genes	Relation type
ENSG00000176095	Chromatin interaction
ENSG00000244730	Chromatin interaction

Extended variants
information (count: 109 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10049413	0.88[ASN][1000 genomes]
rs1049256	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10865958	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10865959	0.88[ASN][1000 genomes]
rs11130214	0.89[ASN][1000 genomes]
rs11130216	0.89[ASN][1000 genomes]
rs11130218	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11130219	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11130221	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1128535	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11709680	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11710675	0.92[ASN][1000 genomes]
rs11714957	0.94[ASN][1000 genomes]
rs11715304	0.88[ASN][1000 genomes]
rs11716575	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11717256	0.89[ASN][1000 genomes]
rs11717463	0.94[ASN][1000 genomes]
rs11920900	0.93[ASN][1000 genomes]
rs12381242	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12490656	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12496226	0.85[ASN][1000 genomes]
rs13063621	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13084243	0.94[ASN][1000 genomes]
rs13085679	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13086130	0.94[ASN][1000 genomes]
rs13086465	0.92[ASN][1000 genomes]
rs13090611	0.86[ASN][1000 genomes]
rs1317140	0.82[ASN][1000 genomes]
rs13316065	0.87[ASN][1000 genomes]
rs1491986	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1799843	0.87[ASN][1000 genomes]
rs1799845	0.87[ASN][1000 genomes]
rs2234385	0.87[ASN][1000 genomes]
rs2234391	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2246832	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2247036	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2271960	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2271961	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2276864	0.88[ASN][1000 genomes]
rs2291542	0.92[ASN][1000 genomes]
rs2307021	0.92[ASN][1000 genomes]
rs2352967	0.87[ASN][1000 genomes]
rs2352974	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2352975	0.88[ASN][1000 genomes]
rs34451146	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34522271	0.94[ASN][1000 genomes]
rs34614773	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34735338	0.92[ASN][1000 genomes]
rs35210174	0.94[ASN][1000 genomes]
rs35261599	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35474403	0.94[ASN][1000 genomes]
rs3749237	0.94[ASN][1000 genomes]
rs3749240	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3749241	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3811695	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3811696	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3819325	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4519692	0.82[ASN][1000 genomes]
rs4768	0.92[ASN][1000 genomes]
rs4855841	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4855850	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4855862	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4855867	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57648519	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59906301	0.89[ASN][1000 genomes]
rs60205400	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62260715	0.92[ASN][1000 genomes]
rs62260719	0.87[ASN][1000 genomes]
rs62260729	0.88[ASN][1000 genomes]
rs6446295	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6766836	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6775384	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6785549	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6802890	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6804655	0.89[ASN][1000 genomes]
rs695238	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7372725	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7372730	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7372966	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7374183	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7374277	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7426497	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7429353	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7431078	0.94[ASN][1000 genomes]
rs7431106	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7618501	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7618519	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7629936	0.86[ASN][1000 genomes]
rs7634886	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7634902	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7645061	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7648987	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7649348	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9815766	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9819511	0.86[ASN][1000 genomes]
rs9850465	0.83[ASN][1000 genomes]
rs9853458	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9855505	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9859153	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9865480	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9871654	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9872864	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9873183	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9876508	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9882639	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[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	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	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
4	nsv876766	chr3:49817450-49961780	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers 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	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs9814765	RBM6	cis	Esophagus Muscularis	GTEx
rs9814765	RBM6	cis	lung	GTEx
rs9814765	FAM212A	cis	Esophagus Mucosa	GTEx
rs9814765	UBA7	cis	Whole Blood	GTEx
rs9814765	RBM6	cis	Nerve Tibial	GTEx
rs9814765	RBM6	cis	Thyroid	GTEx
rs9814765	RBM6	Cis_1M	lymphoblastoid	RTeQTL
rs9814765	RBM6	cis	Whole Blood	GTEx
rs9814765	RBM6	cis	Artery Tibial	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49775800-49823000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:49785600-49822400	Weak transcription	HSMMtube	muscle
3	chr3:49785600-49822600	Weak transcription	Esophagus	oesophagus
4	chr3:49786000-49823000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr3:49786200-49822400	Weak transcription	HMEC	breast
6	chr3:49795000-49819000	Weak transcription	Right Ventricle	heart
7	chr3:49795000-49821000	Weak transcription	K562	blood
8	chr3:49795400-49822400	Weak transcription	Stomach Mucosa	stomach
9	chr3:49804000-49822600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr3:49806200-49818800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr3:49806600-49819000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:49807800-49822600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr3:49809400-49822800	Weak transcription	A549	lung
14	chr3:49809600-49822400	Weak transcription	NHDF-Ad	bronchial
15	chr3:49810400-49822400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:49812000-49822800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr3:49812200-49822800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:49812600-49819000	Strong transcription	Fetal Stomach	stomach
19	chr3:49812800-49821800	Weak transcription	Fetal Heart	heart
20	chr3:49812800-49822400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr3:49812800-49822400	Weak transcription	HSMM	muscle
22	chr3:49813000-49819200	Strong transcription	Primary B cells from cord blood	blood
23	chr3:49813200-49819000	Weak transcription	Ovary	ovary
24	chr3:49813200-49822400	Weak transcription	Hela-S3	cervix
25	chr3:49814000-49821800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:49814400-49818600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr3:49814800-49818800	Weak transcription	Liver	Liver
28	chr3:49814800-49822400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr3:49815000-49820400	Weak transcription	Fetal Lung	lung
30	chr3:49815000-49821200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr3:49815800-49822400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr3:49816000-49818800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr3:49816200-49818800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr3:49816200-49819000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr3:49816400-49821000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr3:49816600-49819200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
37	chr3:49816600-49819600	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr3:49816600-49821800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr3:49816600-49822600	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr3:49816800-49818800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr3:49816800-49819000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr3:49816800-49819000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr3:49816800-49819200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr3:49817000-49818800	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr3:49817000-49819200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr3:49817000-49821400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr3:49817200-49818600	Enhancers	Brain Anterior Caudate	brain
48	chr3:49817200-49818800	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr3:49817200-49819000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr3:49817200-49819200	Genic enhancers	Colon Smooth Muscle	Colon

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