Variant report

Variant	rs7626952
Chromosome Location	chr3:49976972-49976973
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr3:49976960-49978768	IMR90	lung:	n/a	n/a
2	POLR2A	chr3:49976773-49978291	HepG2	liver:	n/a	n/a
3	CBX3	chr3:49976962-49978180	K562	blood:	n/a	n/a
4	MTA3	chr3:49976957-49978618	GM12878	blood:	n/a	n/a
5	SREBP1	chr3:49976900-49978490	GM12878	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:49965505..49970003-chr3:49974970..49980028,17	K562	blood:
2	chr3:49966957..49970009-chr3:49975972..49978983,5	MCF-7	breast:
3	chr3:49976300..49979550-chr3:50125389..50128777,3	K562	blood:
4	chr3:49935827..49937610-chr3:49975872..49978554,2	K562	blood:
5	chr3:49965505..49970003-chr3:49975811..49980300,11	K562	blood:
6	chr3:49892284..49895111-chr3:49976165..49977880,2	K562	blood:
7	chr3:49975788..49978611-chr3:50125447..50127862,2	MCF-7	breast:
8	chr3:49823173..49825666-chr3:49976602..49979269,2	MCF-7	breast:
9	chr3:49965568..49971141-chr3:49975411..49979217,7	MCF-7	breast:

No data

Variant related genes	Relation type
RBM6	TF binding region
ENSG00000003756	Chromatin interaction
ENSG00000176095	Chromatin interaction
ENSG00000164077	Chromatin interaction
ENSG00000183763	Chromatin interaction
ENSG00000230698	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11130222	0.87[ASN][1000 genomes]
rs11706185	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11709503	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11709573	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11712056	0.92[ASN][1000 genomes]
rs11714324	0.92[ASN][1000 genomes]
rs11721204	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12634780	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13077403	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13079006	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13082703	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17657664	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17657688	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2352969	0.92[ASN][1000 genomes]
rs2352984	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2526749	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2526750	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2624815	0.82[EUR][1000 genomes]
rs2624819	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2624821	0.88[ASN][1000 genomes]
rs2624822	0.82[EUR][1000 genomes]
rs2624832	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2681776	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2883059	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34034116	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34312088	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34654589	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs35275715	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36022378	0.90[ASN][1000 genomes]
rs3733134	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3774734	0.82[EUR][1000 genomes]
rs3774759	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3796386	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4688688	0.85[ASN][1000 genomes]
rs4688753	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4688754	0.83[EUR][1000 genomes]
rs55692411	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62262114	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6446191	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs6446192	0.82[EUR][1000 genomes]
rs6446194	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6446195	0.85[EUR][1000 genomes]
rs6762477	0.83[EUR][1000 genomes]
rs6774354	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6793528	0.82[EUR][1000 genomes]
rs7430334	0.82[EUR][1000 genomes]
rs7613360	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7615206	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7627864	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7627910	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7634441	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7648174	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs868891	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs952594	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9682295	0.82[EUR][1000 genomes]
rs9844201	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv513047	chr3:49974660-49977265	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
6	esv2517369	chr3:49975235-49977296	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
7	esv3433975	chr3:49975679-49977391	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
8	esv3345193	chr3:49975875-49977841	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
9	esv3421180	chr3:49976028-49977058	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
10	esv2107111	chr3:49976038-49977099	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	esv3463337	chr3:49976144-49977014	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
12	esv3463338	chr3:49976144-49977014	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
13	esv1004636	chr3:49976226-49977653	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs7626952	RBM6	cis	Artery Tibial	GTEx
rs7626952	RBM6	cis	Skin Sun Exposed Lower leg	GTEx
rs7626952	RBM6	cis	Esophagus Muscularis	GTEx
rs7626952	RBM6	cis	Thyroid	GTEx
rs7626952	RBM6	cis	Esophagus Mucosa	GTEx
rs7626952	RBM6	cis	Heart Left Ventricle	GTEx
rs7626952	RBM6	cis	Adipose Subcutaneous	GTEx
rs7626952	RBM6	cis	Artery Aorta	GTEx
rs7626952	RBM6	cis	Nerve Tibial	GTEx
rs7626952	RBM6	cis	Whole Blood	GTEx
rs7626952	RBM6	cis	lung	GTEx
rs7626952	RBM6	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49967600-49977400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:49967800-49977000	Weak transcription	Primary B cells from cord blood	blood
3	chr3:49967800-49977000	Weak transcription	NHLF	lung
4	chr3:49969200-49977000	Weak transcription	K562	blood
5	chr3:49974600-49977000	Weak transcription	Fetal Intestine Large	intestine
6	chr3:49975000-49977000	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr3:49975000-49977400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr3:49975200-49977000	Weak transcription	Adipose Nuclei	Adipose
9	chr3:49975400-49977000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:49975400-49977000	Weak transcription	Fetal Intestine Small	intestine
11	chr3:49975600-49977000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr3:49975600-49977000	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr3:49976600-49977000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:49976600-49977000	Enhancers	Brain Hippocampus Middle	brain
15	chr3:49976600-49977400	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr3:49976800-49977000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:49976800-49977000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:49976800-49977000	Enhancers	Brain Angular Gyrus	brain
19	chr3:49976800-49977000	Enhancers	Brain Anterior Caudate	brain
20	chr3:49976800-49977000	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr3:49976800-49977000	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr3:49976800-49977000	Enhancers	Fetal Muscle Leg	muscle
23	chr3:49976800-49977000	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr3:49976800-49977000	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr3:49976800-49977000	Enhancers	Dnd41	blood
26	chr3:49976800-49977000	Enhancers	GM12878-XiMat	blood
27	chr3:49976800-49977000	Enhancers	Hela-S3	cervix
28	chr3:49976800-49977000	Active TSS	HepG2	liver
29	chr3:49976800-49977000	Enhancers	HSMM	muscle
30	chr3:49976800-49977400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr3:49976800-49977400	Enhancers	Fetal Thymus	thymus
32	chr3:49976800-49977400	Enhancers	Spleen	Spleen

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