Variant report

Variant	rs62262061
Chromosome Location	chr3:49917686-49917687
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	chr3:49916166-49923391	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr3:49911230-49922975	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr3:49917041-49920433	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:49917501..49919424-chr3:49920193..49922389,2	K562	blood:
2	chr3:49916844..49918945-chr3:49938759..49941090,2	K562	blood:
3	chr3:49908054..49910878-chr3:49916403..49919498,3	K562	blood:

Variant related genes	Relation type
ACTBP13	TF binding region
ENSG00000164078	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs13091525	1.00[ASN][1000 genomes]
rs13095697	1.00[ASN][1000 genomes]
rs13097720	1.00[ASN][1000 genomes]
rs17225749	1.00[ASN][1000 genomes]
rs17304079	1.00[ASN][1000 genomes]
rs1799844	1.00[ASN][1000 genomes]
rs2014004	1.00[ASN][1000 genomes]
rs2526384	1.00[ASN][1000 genomes]
rs2526387	1.00[ASN][1000 genomes]
rs2526397	1.00[ASN][1000 genomes]
rs2526398	1.00[ASN][1000 genomes]
rs2624833	1.00[ASN][1000 genomes]
rs2624841	1.00[ASN][1000 genomes]
rs35012435	1.00[ASN][1000 genomes]
rs35129566	1.00[ASN][1000 genomes]
rs35375092	1.00[ASN][1000 genomes]
rs35491931	1.00[ASN][1000 genomes]
rs35849525	1.00[ASN][1000 genomes]
rs55924524	1.00[ASN][1000 genomes]
rs58339610	1.00[ASN][1000 genomes]
rs62260663	1.00[ASN][1000 genomes]
rs62260720	1.00[ASN][1000 genomes]
rs62260755	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62262106	1.00[ASN][1000 genomes]
rs62262118	1.00[ASN][1000 genomes]
rs62262722	1.00[ASN][1000 genomes]
rs62262730	1.00[ASN][1000 genomes]
rs62263602	1.00[ASN][1000 genomes]
rs6787892	1.00[ASN][1000 genomes]
rs6804970	1.00[ASN][1000 genomes]
rs71326904	1.00[ASN][1000 genomes]
rs71326915	1.00[ASN][1000 genomes]
rs7613603	1.00[ASN][1000 genomes]
rs7615318	1.00[ASN][1000 genomes]
rs7620848	1.00[ASN][1000 genomes]
rs7621797	1.00[ASN][1000 genomes]
rs7635601	1.00[ASN][1000 genomes]
rs7637711	1.00[ASN][1000 genomes]
rs7648652	1.00[ASN][1000 genomes]
rs7649428	1.00[ASN][1000 genomes]
rs9829155	1.00[ASN][1000 genomes]
rs9835157	1.00[ASN][1000 genomes]
rs9836756	1.00[ASN][1000 genomes]
rs9851651	1.00[ASN][1000 genomes]
rs9870755	1.00[ASN][1000 genomes]
rs9870858	1.00[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62262061	RBM6	cis	Artery Tibial	GTEx

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49911800-49918600	Weak transcription	Colonic Mucosa	Colon
2	chr3:49912000-49919000	Weak transcription	Spleen	Spleen
3	chr3:49912400-49917800	Weak transcription	Stomach Mucosa	stomach
4	chr3:49914200-49917800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:49914200-49918800	Enhancers	Fetal Brain Male	brain
6	chr3:49914600-49918000	Enhancers	Fetal Brain Female	brain
7	chr3:49914600-49920200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr3:49915600-49918000	Weak transcription	Fetal Stomach	stomach
9	chr3:49915600-49918600	Enhancers	HepG2	liver
10	chr3:49915800-49917800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr3:49916200-49917800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr3:49917000-49920200	Enhancers	Fetal Intestine Small	intestine
13	chr3:49917200-49917800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr3:49917200-49918000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:49917200-49918000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr3:49917200-49918000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr3:49917200-49918000	Enhancers	Fetal Muscle Leg	muscle
18	chr3:49917200-49918400	Enhancers	Brain Substantia Nigra	brain
19	chr3:49917200-49918600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr3:49917200-49918800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr3:49917200-49919000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr3:49917200-49919400	Enhancers	Fetal Lung	lung
23	chr3:49917200-49919400	Enhancers	Stomach Smooth Muscle	stomach
24	chr3:49917200-49919400	Enhancers	K562	blood
25	chr3:49917200-49919600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr3:49917200-49920000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:49917200-49920200	Enhancers	H1 Cell Line	embryonic stem cell
28	chr3:49917200-49920200	Enhancers	Fetal Intestine Large	intestine
29	chr3:49917200-49920400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr3:49917400-49917800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr3:49917400-49919200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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