Variant report

Variant	rs62385805
Chromosome Location	chr6:13484640-13484641
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	MXI1	chr6:13484535-13488686	SK-N-SH	brain:	n/a	n/a
2	BCL11A	chr6:13484440-13484701	GM12878	blood:	n/a	chr6:13484618-13484627
3	TAL1	chr6:13484447-13484721	K562	blood:	n/a	n/a
4	FOSL2	chr6:13484283-13484709	HepG2	liver:	n/a	chr6:13484524-13484535
5	ARID3A	chr6:13484142-13484766	HepG2	liver:	n/a	n/a
6	HNF4A	chr6:13484275-13484664	HepG2	liver:	n/a	chr6:13484486-13484498 chr6:13484491-13484499 chr6:13484485-13484500 chr6:13484485-13484500 chr6:13484487-13484499 chr6:13484484-13484499
7	HNF4G	chr6:13484267-13484725	HepG2	liver:	n/a	chr6:13484486-13484498 chr6:13484491-13484499 chr6:13484485-13484500 chr6:13484483-13484498 chr6:13484485-13484500 chr6:13484487-13484499
8	MAX	chr6:13484538-13484712	K562	blood:	n/a	n/a
9	SPI1	chr6:13484425-13484775	GM12878	blood:	n/a	chr6:13484618-13484627 chr6:13484546-13484555
10	RUNX3	chr6:13484279-13484835	GM12878	blood:	n/a	n/a
11	IRF1	chr6:13484312-13484823	K562	blood:	n/a	chr6:13484343-13484350 chr6:13484617-13484627 chr6:13484528-13484537 chr6:13484619-13484628 chr6:13484543-13484557 chr6:13484727-13484741 chr6:13484541-13484555
12	TEAD4	chr6:13484316-13485232	K562	blood:	n/a	n/a
13	JUND	chr6:13484378-13484774	K562	blood:	n/a	chr6:13484524-13484535
14	ATF1	chr6:13484426-13484881	K562	blood:	n/a	n/a
15	HNF4A	chr6:13484336-13484726	HepG2	liver:	n/a	chr6:13484486-13484498 chr6:13484491-13484499 chr6:13484485-13484500 chr6:13484485-13484500 chr6:13484487-13484499 chr6:13484484-13484499
16	FOXM1	chr6:13484309-13484820	GM12878	blood:	n/a	n/a
17	MXI1	chr6:13484466-13485305	GM12878	blood:	n/a	n/a
18	HDAC2	chr6:13484246-13484729	HepG2	liver:	n/a	chr6:13484491-13484499
19	EP300	chr6:13484322-13484813	GM12878	blood:	n/a	n/a
20	SP1	chr6:13484248-13484769	HepG2	liver:	n/a	n/a
21	NFATC1	chr6:13484321-13484874	GM12878	blood:	n/a	n/a
22	EBF1	chr6:13484424-13484717	GM12878	blood:	n/a	n/a
23	RUNX3	chr6:13484228-13484852	GM12878	blood:	n/a	n/a
24	SPI1	chr6:13484472-13484688	GM12878	blood:	n/a	chr6:13484618-13484627 chr6:13484546-13484555
25	IRF4	chr6:13484280-13484757	GM12878	blood:	n/a	n/a
26	NFIC	chr6:13484261-13484822	GM12878	blood:	n/a	n/a
27	GATA2	chr6:13484384-13485467	HUVEC	blood vessel:	n/a	chr6:13484564-13484577 chr6:13485418-13485425
28	EP300	chr6:13484429-13484855	K562	blood:	n/a	n/a
29	POLR2A	chr6:13484266-13486670	GM12891	blood:	n/a	n/a
30	BATF	chr6:13484323-13484710	GM12878	blood:	n/a	chr6:13484343-13484351 chr6:13484524-13484535
31	BCLAF1	chr6:13484293-13484912	GM12878	blood:	n/a	chr6:13484618-13484627
32	IRF1	chr6:13484120-13484748	K562	blood:	n/a	chr6:13484343-13484350 chr6:13484617-13484627 chr6:13484528-13484537 chr6:13484619-13484628 chr6:13484543-13484557 chr6:13484727-13484741 chr6:13484541-13484555
33	FOXA1	chr6:13484040-13484738	HepG2	liver:	n/a	n/a
34	NFIC	chr6:13484278-13484786	GM12878	blood:	n/a	n/a
35	IRF4	chr6:13484240-13484792	GM12878	blood:	n/a	n/a
36	STAT1	chr6:13484416-13484724	GM12878	blood:	n/a	chr6:13484544-13484555
37	MTA3	chr6:13484279-13484877	GM12878	blood:	n/a	n/a
38	JUN	chr6:13484388-13484961	K562	blood:	n/a	chr6:13484524-13484535
39	BCL11A	chr6:13484332-13484676	GM12878	blood:	n/a	chr6:13484618-13484627
40	GATA2	chr6:13484351-13484794	K562	blood:	n/a	chr6:13484564-13484577
41	PML	chr6:13484330-13485202	K562	blood:	n/a	chr6:13484526-13484535
42	MYBL2	chr6:13484225-13484782	HepG2	liver:	n/a	n/a
43	POLR2A	chr6:13484578-13484646	HUVEC	blood vessel:	n/a	n/a
44	UBTF	chr6:13484413-13484715	K562	blood:	n/a	n/a
45	JUND	chr6:13484084-13484717	HepG2	liver:	n/a	chr6:13484524-13484535
46	SPI1	chr6:13484340-13484769	GM12891	blood:	n/a	chr6:13484618-13484627 chr6:13484546-13484555
47	EP300	chr6:13484287-13484706	HepG2	liver:	n/a	n/a
48	HNF4G	chr6:13484246-13484781	HepG2	liver:	n/a	chr6:13484486-13484498 chr6:13484491-13484499 chr6:13484485-13484500 chr6:13484483-13484498 chr6:13484485-13484500 chr6:13484487-13484499
49	WRNIP1	chr6:13483606-13484677	GM12878	blood:	n/a	n/a
50	FOXA1	chr6:13484205-13484670	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:13468490..13471439-chr6:13483203..13485930,2	K562	blood:
2	chr6:13469372..13471111-chr6:13483426..13485334,2	MCF-7	breast:
3	chr6:13484393..13490113-chr6:13572102..13578017,14	MCF-7	breast:
4	chr6:13465251..13472690-chr6:13481619..13489131,10	K562	blood:
5	chr6:13484080..13486133-chr6:13486417..13487997,2	MCF-7	breast:
6	chr6:13325999..13330365-chr6:13484429..13488653,6	MCF-7	breast:
7	chr6:13481880..13484650-chr6:13615357..13616960,2	K562	blood:
8	chr6:13406818..13408886-chr6:13483840..13488220,5	MCF-7	breast:

Variant related genes	Relation type
GFOD1-AS1	TF binding region
ENSG00000145979	Chromatin interaction
ENSG00000237786	Chromatin interaction
ENSG00000145990	Chromatin interaction
ENSG00000225921	Chromatin interaction
ENSG00000261071	Chromatin interaction
ENSG00000124523	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16874170	0.95[AFR][1000 genomes]
rs57489291	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs60148958	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62385801	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62385806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62385809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62385810	0.93[AMR][1000 genomes]
rs62385811	0.93[AMR][1000 genomes]
rs73372816	0.93[AMR][1000 genomes]
rs982391	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1028533	chr6:13239059-13484814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv538136	chr6:13239059-13484814	Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1033620	chr6:13419730-13571788	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv462640	chr6:13426539-13519434	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv600994	chr6:13426539-13519434	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv470802	chr6:13441424-13519371	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13454400-13485000	Weak transcription	Colonic Mucosa	Colon
2	chr6:13462800-13484800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr6:13465200-13485000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr6:13469400-13485800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:13471000-13485400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:13471000-13485600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:13471600-13485000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr6:13471800-13485600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr6:13474800-13484800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr6:13477600-13485800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:13480800-13485000	Weak transcription	Placenta	Placenta
12	chr6:13481200-13485200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:13481400-13485600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:13481400-13485600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:13481400-13486000	Weak transcription	Aorta	Aorta
16	chr6:13481800-13485000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr6:13482000-13485000	Weak transcription	Pancreas	Pancrea
18	chr6:13482000-13485000	Weak transcription	NH-A	brain
19	chr6:13482600-13485800	Enhancers	Spleen	Spleen
20	chr6:13483200-13488800	Active TSS	Right Atrium	heart
21	chr6:13483400-13484800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
22	chr6:13483400-13484800	Enhancers	Lung	lung
23	chr6:13483400-13484800	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr6:13483400-13485000	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr6:13483400-13485200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr6:13483400-13485200	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr6:13483400-13485600	Enhancers	Fetal Thymus	thymus
28	chr6:13483400-13486400	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr6:13483400-13487600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr6:13483600-13484800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr6:13483600-13485400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:13483600-13485400	Enhancers	Placenta Amnion	Placenta Amnion
33	chr6:13483600-13485400	Enhancers	Thymus	Thymus
34	chr6:13483600-13485600	Enhancers	Colon Smooth Muscle	Colon
35	chr6:13483600-13485600	Weak transcription	Esophagus	oesophagus
36	chr6:13483600-13485800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr6:13483800-13485600	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr6:13483800-13485600	Enhancers	Dnd41	blood
39	chr6:13483800-13485800	Enhancers	Primary B cells from peripheral blood	blood
40	chr6:13483800-13486000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr6:13484000-13485000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
42	chr6:13484000-13485400	Enhancers	Stomach Mucosa	stomach
43	chr6:13484000-13485800	Weak transcription	Gastric	stomach
44	chr6:13484200-13484800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:13484200-13484800	Active TSS	Stomach Smooth Muscle	stomach
46	chr6:13484200-13484800	Enhancers	NHEK	skin
47	chr6:13484200-13485600	Flanking Active TSS	Fetal Brain Female	brain
48	chr6:13484200-13486000	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr6:13484200-13486000	Flanking Active TSS	HepG2	liver
50	chr6:13484200-13486000	Flanking Active TSS	K562	blood

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