Variant report

Variant	rs7426497
Chromosome Location	chr3:49789814-49789815
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	chr3:49789771-49789875	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:49784876..49786861-chr3:49789630..49792423,2	K562	blood:

Variant related genes	Relation type
IP6K1	TF binding region
ENSG00000176095	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1049256	0.88[AMR][1000 genomes]
rs10865958	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11130218	0.87[AMR][1000 genomes]
rs11130219	0.88[AMR][1000 genomes]
rs11130221	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1128535	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11709680	0.87[AMR][1000 genomes]
rs11716575	0.87[AMR][1000 genomes]
rs12381242	0.86[AMR][1000 genomes]
rs12490656	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13063621	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13085679	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1491986	0.87[AMR][1000 genomes]
rs2234391	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2246832	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2247036	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2271960	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2271961	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2352974	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34451146	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34614773	0.88[AMR][1000 genomes]
rs35261599	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs3749240	0.87[AMR][1000 genomes]
rs3749241	0.87[AMR][1000 genomes]
rs3811695	0.86[AMR][1000 genomes]
rs3811696	0.88[AMR][1000 genomes]
rs3819325	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4855841	0.86[AMR][1000 genomes]
rs4855850	0.86[AMR][1000 genomes]
rs4855862	0.87[AMR][1000 genomes]
rs4855867	0.87[AMR][1000 genomes]
rs57648519	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60205400	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6446295	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6766836	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6775384	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6785549	0.87[AMR][1000 genomes]
rs6802890	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs695238	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7372725	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7372730	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7372966	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7374183	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7374277	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7429353	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7431106	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7618501	0.92[AMR][1000 genomes]
rs7618519	0.92[AMR][1000 genomes]
rs7634886	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7634902	0.88[AMR][1000 genomes]
rs7645061	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7648987	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7649348	0.93[AMR][1000 genomes]
rs9814765	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9815766	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9853458	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9855505	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9859153	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9865480	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9871654	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9872864	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9873183	0.86[AMR][1000 genomes]
rs9876508	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9882639	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs7426497	RBM6	cis	Artery Tibial	GTEx
rs7426497	RBM6	cis	Whole Blood	GTEx
rs7426497	RBM6	cis	Adipose Subcutaneous	GTEx
rs7426497	UBA7	cis	Whole Blood	GTEx
rs7426497	RBM6	cis	Thyroid	GTEx
rs7426497	RBM6	cis	Nerve Tibial	GTEx
rs7426497	RBM6	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49762600-49809000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr3:49772600-49791600	Weak transcription	Right Atrium	heart
3	chr3:49775600-49817000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr3:49775800-49810200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr3:49775800-49823000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr3:49776000-49791200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr3:49776000-49791800	Weak transcription	Psoas Muscle	Psoas
8	chr3:49776200-49790400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr3:49776200-49799000	Weak transcription	Fetal Heart	heart
10	chr3:49776200-49802000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr3:49776400-49794400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr3:49776400-49797400	Weak transcription	Small Intestine	intestine
13	chr3:49776400-49812000	Weak transcription	HSMM	muscle
14	chr3:49776400-49812200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:49776400-49812600	Weak transcription	Gastric	stomach
16	chr3:49776400-49818000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:49776400-49818000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr3:49776400-49818200	Weak transcription	Fetal Kidney	kidney
19	chr3:49776600-49812000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr3:49777600-49791000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:49782600-49814000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:49783600-49791800	Weak transcription	K562	blood
23	chr3:49783800-49794400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr3:49785200-49807200	Weak transcription	Hela-S3	cervix
25	chr3:49785600-49793400	Weak transcription	Brain Anterior Caudate	brain
26	chr3:49785600-49793400	Weak transcription	Brain Substantia Nigra	brain
27	chr3:49785600-49794400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr3:49785600-49794600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr3:49785600-49822400	Weak transcription	HSMMtube	muscle
30	chr3:49785600-49822600	Weak transcription	Esophagus	oesophagus
31	chr3:49785800-49790400	Weak transcription	Adipose Nuclei	Adipose
32	chr3:49785800-49791600	Weak transcription	Colonic Mucosa	Colon
33	chr3:49785800-49793200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr3:49785800-49807400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr3:49785800-49811200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr3:49785800-49812400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr3:49785800-49818000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr3:49786000-49790600	Weak transcription	Colon Smooth Muscle	Colon
39	chr3:49786000-49791000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:49786000-49807200	Weak transcription	Fetal Brain Female	brain
41	chr3:49786000-49812400	Weak transcription	NHEK	skin
42	chr3:49786000-49812600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr3:49786000-49812800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr3:49786000-49814400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr3:49786000-49823000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr3:49786200-49793200	Weak transcription	Brain Angular Gyrus	brain
47	chr3:49786200-49793400	Weak transcription	Spleen	Spleen
48	chr3:49786200-49794600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr3:49786200-49794600	Weak transcription	Right Ventricle	heart
50	chr3:49786200-49796600	Weak transcription	Brain Hippocampus Middle	brain

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