Variant report

Variant	rs34614773
Chromosome Location	chr3:49753003-49753004
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:49752976-49753297	U87	brain:	n/a	n/a
2	POLR2A	chr3:49752450-49757371	GM12878	blood:	n/a	n/a
3	POLR2A	chr3:49752991-49753346	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr3:49751816-49757616	U87	brain:	n/a	n/a
5	POLR2A	chr3:49752563-49753341	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr3:49752966-49754551	K562	blood:	n/a	n/a
7	POLR2A	chr3:49752889-49762689	GM12892	blood:	n/a	n/a
8	POLR2A	chr3:49752599-49754026	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr3:49752918-49753034	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr3:49752911-49757637	HL-60	blood:	n/a	n/a
11	POLR2A	chr3:49752081-49757341	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr3:49752391-49754267	U87	brain:	n/a	n/a
13	POLR2A	chr3:49752948-49753474	MCF-7	breast:	n/a	n/a
14	POLR2A	chr3:49752991-49753483	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr3:49752820-49757544	GM12891	blood:	n/a	n/a
16	POLR2A	chr3:49752922-49755283	HepG2	liver:	n/a	n/a
17	POLR2A	chr3:49752283-49757359	GM12878	blood:	n/a	n/a
18	POLR2A	chr3:49752339-49754713	HepG2	liver:	n/a	n/a
19	POLR2A	chr3:49752258-49757457	K562	blood:	n/a	n/a
20	POLR2A	chr3:49752920-49754121	GM12878	blood:	n/a	n/a
21	POLR2A	chr3:49752976-49753345	U87	brain:	n/a	n/a
22	POLR2A	chr3:49752553-49754017	GM12891	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17936495..17938188-chr3:49752423..49755121,2	MCF-7	breast:
2	chr3:49735446..49741255-chr3:49749875..49755830,7	K562	blood:

No data

Variant related genes	Relation type
RNF123	TF binding region
ENSG00000164068	Chromatin interaction

Extended variants
information (count: 109 )
Associated
traits (count: 10 )

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

rs_ID	r²[population]
rs10049413	0.84[ASN][1000 genomes]
rs1049256	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10865958	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10865959	0.84[ASN][1000 genomes]
rs11130214	0.94[ASN][1000 genomes]
rs11130216	0.94[ASN][1000 genomes]
rs11130218	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11130219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11130221	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1128535	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11709680	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11710675	0.96[ASN][1000 genomes]
rs11714957	0.94[ASN][1000 genomes]
rs11715304	0.88[ASN][1000 genomes]
rs11716575	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11717256	0.89[ASN][1000 genomes]
rs11717463	0.94[ASN][1000 genomes]
rs11920900	0.93[ASN][1000 genomes]
rs12381242	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12490656	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12496226	0.89[ASN][1000 genomes]
rs13063621	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13084243	0.94[ASN][1000 genomes]
rs13085679	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13086130	0.94[ASN][1000 genomes]
rs13086465	0.92[ASN][1000 genomes]
rs13090611	0.86[ASN][1000 genomes]
rs1317140	0.80[ASN][1000 genomes]
rs13316065	0.85[ASN][1000 genomes]
rs1491986	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1799843	0.87[ASN][1000 genomes]
rs1799845	0.87[ASN][1000 genomes]
rs2234385	0.87[ASN][1000 genomes]
rs2234391	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2246832	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2247036	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2271960	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2271961	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2276864	0.84[ASN][1000 genomes]
rs2291542	0.96[ASN][1000 genomes]
rs2307021	0.96[ASN][1000 genomes]
rs2352967	0.85[ASN][1000 genomes]
rs2352974	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2352975	0.84[ASN][1000 genomes]
rs34451146	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34522271	0.94[ASN][1000 genomes]
rs34735338	0.92[ASN][1000 genomes]
rs35210174	0.94[ASN][1000 genomes]
rs35261599	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35474403	0.94[ASN][1000 genomes]
rs3749237	0.94[ASN][1000 genomes]
rs3749240	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3749241	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3811695	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3811696	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3819325	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4519692	0.80[ASN][1000 genomes]
rs4768	0.96[ASN][1000 genomes]
rs4855841	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4855850	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4855862	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4855867	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57648519	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59906301	0.89[ASN][1000 genomes]
rs60205400	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62260715	0.92[ASN][1000 genomes]
rs62260719	0.87[ASN][1000 genomes]
rs62260729	0.84[ASN][1000 genomes]
rs6446295	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6766836	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6775384	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6785549	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6802890	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6804655	0.94[ASN][1000 genomes]
rs695238	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7372725	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7372730	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7372966	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7374183	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7374277	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7426497	0.88[AMR][1000 genomes]
rs7429353	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7431078	0.94[ASN][1000 genomes]
rs7431106	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7618501	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7618519	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7629936	0.86[ASN][1000 genomes]
rs7634886	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7634902	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7645061	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7648987	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7649348	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9814765	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9815766	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9819511	0.84[ASN][1000 genomes]
rs9850465	0.84[ASN][1000 genomes]
rs9853458	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9855505	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9859153	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9865480	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9871654	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9872864	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9873183	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9876508	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9882639	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[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	nsv508217	chr3:49615446-49769896	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	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
3	esv1825898	chr3:49688948-49764849	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
4	esv1796605	chr3:49744556-49760567	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs34614773	UBA7	cis	Whole Blood	GTEx
rs34614773	RBM6	cis	Nerve Tibial	GTEx
rs34614773	RBM6	cis	Artery Tibial	GTEx
rs34614773	RBM6	Cis_1M	lymphoblastoid	RTeQTL
rs34614773	RBM6	cis	Thyroid	GTEx
rs34614773	FAM212A	cis	Esophagus Mucosa	GTEx
rs34614773	RBM6	cis	Esophagus Muscularis	GTEx
rs34614773	RBM6	cis	Adipose Subcutaneous	GTEx
rs34614773	RBM6	cis	lung	GTEx
rs34614773	RBM6	cis	Whole Blood	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49728400-49753200	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr3:49728400-49756600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:49729200-49755800	Weak transcription	Right Atrium	heart
4	chr3:49732200-49755000	Strong transcription	Fetal Intestine Small	intestine
5	chr3:49734400-49756000	Strong transcription	Liver	Liver
6	chr3:49735400-49755400	Weak transcription	Stomach Mucosa	stomach
7	chr3:49736800-49756400	Weak transcription	HSMM	muscle
8	chr3:49739000-49756400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr3:49739200-49753200	Weak transcription	Colon Smooth Muscle	Colon
10	chr3:49740000-49755600	Weak transcription	Fetal Brain Male	brain
11	chr3:49740200-49756000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr3:49740200-49756600	Weak transcription	HSMMtube	muscle
13	chr3:49740400-49755000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr3:49740600-49759800	Weak transcription	Hela-S3	cervix
15	chr3:49740800-49756400	Weak transcription	Osteobl	bone
16	chr3:49741400-49755200	Strong transcription	Placenta	Placenta
17	chr3:49741800-49755600	Weak transcription	HUVEC	blood vessel
18	chr3:49742600-49756200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr3:49743000-49756400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:49743000-49756800	Weak transcription	Small Intestine	intestine
21	chr3:49743400-49756200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr3:49743600-49753200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:49743600-49753200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr3:49743800-49755800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr3:49744000-49755400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr3:49744000-49756400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:49744200-49753200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr3:49745000-49756000	Weak transcription	Primary B cells from cord blood	blood
29	chr3:49745200-49756000	Weak transcription	NH-A	brain
30	chr3:49745200-49756200	Weak transcription	Left Ventricle	heart
31	chr3:49745400-49756200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:49746200-49753200	Weak transcription	Brain Substantia Nigra	brain
33	chr3:49746400-49756600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr3:49747400-49755000	Strong transcription	Fetal Stomach	stomach
35	chr3:49747600-49754600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr3:49748200-49754600	Strong transcription	Stomach Smooth Muscle	stomach
37	chr3:49748600-49754200	Strong transcription	Fetal Muscle Leg	muscle
38	chr3:49748600-49754400	Strong transcription	Duodenum Mucosa	Duodenum
39	chr3:49748600-49754800	Strong transcription	Brain Anterior Caudate	brain
40	chr3:49748600-49754800	Strong transcription	Lung	lung
41	chr3:49748600-49755600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr3:49748800-49755400	Strong transcription	Fetal Intestine Large	intestine
43	chr3:49749000-49754600	Strong transcription	Adipose Nuclei	Adipose
44	chr3:49749400-49756600	Weak transcription	A549	lung
45	chr3:49749600-49755600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr3:49749800-49754400	Strong transcription	Brain Hippocampus Middle	brain
47	chr3:49749800-49755000	Strong transcription	Gastric	stomach
48	chr3:49749800-49756400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
49	chr3:49750000-49754000	Strong transcription	Brain Angular Gyrus	brain
50	chr3:49750200-49753800	Strong transcription	Duodenum Smooth Muscle	Duodenum

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