Variant report

Variant	rs4855867
Chromosome Location	chr3:49745822-49745823
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:49745133-49745823	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:49744504..49746005-chr3:49749616..49751873,2	K562	blood:
2	chr3:49744683..49746856-chr3:49748059..49750371,2	MCF-7	breast:

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

Extended variants
information (count: 114 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10049413	0.84[ASN][1000 genomes]
rs1049256	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1062633	0.81[CHB][hapmap]
rs10865958	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10865959	0.84[ASN][1000 genomes]
rs11130214	0.82[CHB][hapmap];0.85[JPT][hapmap];0.94[ASN][1000 genomes]
rs11130216	0.82[CHB][hapmap];0.85[JPT][hapmap];0.94[ASN][1000 genomes]
rs11130218	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11130219	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11130221	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1128535	1.00[CEU][hapmap];0.90[CHB][hapmap];0.83[JPT][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11709680	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11710675	0.96[ASN][1000 genomes]
rs11714957	0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11715304	0.88[ASN][1000 genomes]
rs11716575	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11717256	0.89[ASN][1000 genomes]
rs11717463	0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11920900	0.93[ASN][1000 genomes]
rs12381242	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12490656	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12496226	0.89[ASN][1000 genomes]
rs13063621	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13084243	0.94[ASN][1000 genomes]
rs13085679	0.84[AMR][1000 genomes];0.85[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	0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs13316065	0.82[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs1491986	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1799843	0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs1799845	0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs2234385	0.87[ASN][1000 genomes]
rs2234391	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2246832	1.00[CEU][hapmap];0.92[CHB][hapmap];0.85[JPT][hapmap];0.89[YRI][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2247036	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2271960	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2271961	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2276864	0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs2291542	0.82[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2307021	0.83[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2352967	0.85[ASN][1000 genomes]
rs2352974	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.81[YRI][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2352975	0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs2681780	0.81[CEU][hapmap]
rs2681781	0.81[CEU][hapmap]
rs2777888	0.80[CEU][hapmap]
rs34451146	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34522271	0.94[ASN][1000 genomes]
rs34614773	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34735338	0.92[ASN][1000 genomes]
rs35210174	0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs35261599	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35474403	0.94[ASN][1000 genomes]
rs3749237	0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3749240	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3749241	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3811695	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3811696	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3819325	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4519692	0.80[ASN][1000 genomes]
rs4768	0.82[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4855841	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4855850	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4855862	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57648519	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59906301	0.89[ASN][1000 genomes]
rs60205400	0.88[AMR][1000 genomes];0.87[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	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6766836	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6775384	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.81[YRI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6785549	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6802890	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[JPT][hapmap];0.81[YRI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6804655	0.82[CHB][hapmap];0.85[JPT][hapmap];0.94[ASN][1000 genomes]
rs695238	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7372725	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7372730	1.00[CEU][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7372966	1.00[CEU][hapmap];0.82[CHB][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7374183	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7374277	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7426497	0.87[AMR][1000 genomes]
rs7429353	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7431078	0.94[ASN][1000 genomes]
rs7431106	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7618501	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7618519	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7629936	0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs7634886	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7634902	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7645061	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7648987	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7649348	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9814765	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9815766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9819511	0.84[ASN][1000 genomes]
rs9821675	0.85[CEU][hapmap]
rs9850465	0.84[ASN][1000 genomes]
rs9853458	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9855505	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9859153	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9865480	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9871654	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9872864	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[YRI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9873183	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9876508	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9882639	0.88[AMR][1000 genomes];0.87[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
rs4855867	RBM6	cis	lung	GTEx
rs4855867	FAM212A	cis	Esophagus Mucosa	GTEx
rs4855867	RBM6	cis	Adipose Subcutaneous	GTEx
rs4855867	RBM6	cis	Nerve Tibial	GTEx
rs4855867	RBM6	cis	Whole Blood	GTEx
rs4855867	RBM6	cis	Esophagus Muscularis	GTEx
rs4855867	RBM6	cis	Artery Tibial	GTEx
rs4855867	RBM6	cis	Thyroid	GTEx
rs4855867	UBA7	cis	Whole Blood	GTEx
rs4855867	RBM6	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49728000-49748800	Weak transcription	A549	lung
2	chr3:49728400-49753200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr3:49728400-49756600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr3:49728600-49750400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr3:49729200-49749800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr3:49729200-49750200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr3:49729200-49755800	Weak transcription	Right Atrium	heart
8	chr3:49729400-49750200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr3:49732200-49755000	Strong transcription	Fetal Intestine Small	intestine
10	chr3:49733000-49750200	Weak transcription	Psoas Muscle	Psoas
11	chr3:49734200-49746000	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr3:49734200-49746000	Strong transcription	Thymus	Thymus
13	chr3:49734200-49746200	Strong transcription	Duodenum Mucosa	Duodenum
14	chr3:49734400-49746000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr3:49734400-49746000	Strong transcription	Fetal Intestine Large	intestine
16	chr3:49734400-49746200	Strong transcription	Brain Inferior Temporal Lobe	brain
17	chr3:49734400-49746200	Strong transcription	Stomach Smooth Muscle	stomach
18	chr3:49734400-49746200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr3:49734400-49746400	Strong transcription	Brain Hippocampus Middle	brain
20	chr3:49734400-49756000	Strong transcription	Liver	Liver
21	chr3:49734600-49746000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr3:49734600-49746200	Strong transcription	Fetal Muscle Leg	muscle
23	chr3:49734600-49746400	Strong transcription	Fetal Thymus	thymus
24	chr3:49734800-49746200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr3:49734800-49746200	Strong transcription	Brain Anterior Caudate	brain
26	chr3:49735400-49755400	Weak transcription	Stomach Mucosa	stomach
27	chr3:49736000-49749800	Weak transcription	GM12878-XiMat	blood
28	chr3:49736000-49753000	Weak transcription	K562	blood
29	chr3:49736600-49746000	Strong transcription	Right Ventricle	heart
30	chr3:49736800-49756400	Weak transcription	HSMM	muscle
31	chr3:49737200-49746000	Strong transcription	Ovary	ovary
32	chr3:49737200-49746200	Strong transcription	Adipose Nuclei	Adipose
33	chr3:49739000-49752000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr3:49739000-49756400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr3:49739200-49753200	Weak transcription	Colon Smooth Muscle	Colon
36	chr3:49739400-49746000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr3:49740000-49755600	Weak transcription	Fetal Brain Male	brain
38	chr3:49740200-49756000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr3:49740200-49756600	Weak transcription	HSMMtube	muscle
40	chr3:49740400-49747400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr3:49740400-49755000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr3:49740600-49759800	Weak transcription	Hela-S3	cervix
43	chr3:49740800-49756400	Weak transcription	Osteobl	bone
44	chr3:49741200-49746800	Strong transcription	Fetal Stomach	stomach
45	chr3:49741400-49746600	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr3:49741400-49755200	Strong transcription	Placenta	Placenta
47	chr3:49741600-49746000	Strong transcription	Lung	lung
48	chr3:49741600-49746200	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr3:49741800-49746200	Strong transcription	Brain Substantia Nigra	brain
50	chr3:49741800-49755600	Weak transcription	HUVEC	blood vessel

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