Variant report

Variant	rs61299002
Chromosome Location	chr6:142618539-142618540
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr6:142617893-142618835	HepG2	liver:	n/a	n/a
2	HNF4G	chr6:142618184-142618844	HepG2	liver:	n/a	n/a
3	TBP	chr6:142618207-142618873	HepG2	liver:	n/a	n/a
4	EP300	chr6:142617955-142618848	HepG2	liver:	n/a	n/a
5	HEY1	chr6:142618485-142618850	HepG2	liver:	n/a	n/a
6	HEY1	chr6:142618417-142618906	HepG2	liver:	n/a	n/a
7	NFIC	chr6:142617764-142618835	HepG2	liver:	n/a	n/a
8	TCF7L2	chr6:142617505-142619445	HepG2	liver:	n/a	n/a
9	POLR2A	chr6:142618513-142618867	HepG2	liver:	n/a	n/a
10	EP300	chr6:142618210-142618770	HepG2	liver:	n/a	n/a
11	MBD4	chr6:142618054-142619679	HepG2	liver:	n/a	n/a
12	MAZ	chr6:142618440-142618768	HepG2	liver:	n/a	n/a
13	CHD2	chr6:142618152-142618769	HepG2	liver:	n/a	n/a
14	ZBTB7A	chr6:142618441-142618816	HepG2	liver:	n/a	n/a
15	FOXA1	chr6:142617792-142620068	HepG2	liver:	n/a	n/a
16	HNF4A	chr6:142618335-142618740	HepG2	liver:	n/a	n/a
17	CEBPD	chr6:142618472-142618779	HepG2	liver:	n/a	n/a
18	MAFK	chr6:142618182-142618736	HepG2	liver:	n/a	n/a
19	MAFK	chr6:142618146-142618544	HepG2	liver:	n/a	n/a
20	MAFF	chr6:142618185-142618550	HepG2	liver:	n/a	n/a
21	MYBL2	chr6:142617477-142619825	HepG2	liver:	n/a	n/a
22	HDAC2	chr6:142617965-142618821	HepG2	liver:	n/a	n/a
23	BRCA1	chr6:142618516-142618716	HepG2	liver:	n/a	n/a
24	HNF4A	chr6:142618116-142618816	HepG2	liver:	n/a	n/a
25	TEAD4	chr6:142617606-142620027	HepG2	liver:	n/a	n/a
26	FOXA1	chr6:142617801-142618862	HepG2	liver:	n/a	n/a
27	FOXA2	chr6:142617785-142618851	HepG2	liver:	n/a	n/a
28	FOXA2	chr6:142617672-142619842	HepG2	liver:	n/a	n/a
29	SP1	chr6:142617943-142618907	HepG2	liver:	n/a	chr6:142618529-142618538 chr6:142618585-142618594 chr6:142618524-142618538 chr6:142618527-142618539 chr6:142618528-142618537 chr6:142618527-142618539 chr6:142618528-142618538
30	MBD4	chr6:142617917-142618783	HepG2	liver:	n/a	n/a
31	REST	chr6:142618292-142618773	HepG2	liver:	n/a	chr6:142618525-142618538
32	NFIC	chr6:142617842-142618884	HepG2	liver:	n/a	n/a
33	SMC3	chr6:142618309-142618792	HepG2	liver:	n/a	n/a
34	POLR2A	chr6:142618388-142618889	HepG2	liver:	n/a	n/a
35	FOXA1	chr6:142618114-142618847	HepG2	liver:	n/a	n/a
36	HDAC2	chr6:142618219-142618835	HepG2	liver:	n/a	n/a
37	ARID3A	chr6:142618166-142620006	HepG2	liver:	n/a	n/a
38	MYBL2	chr6:142617885-142619743	HepG2	liver:	n/a	n/a
39	ZBTB7A	chr6:142618444-142618701	HepG2	liver:	n/a	n/a
40	RAD21	chr6:142618251-142618894	HepG2	liver:	n/a	n/a
41	FOXA1	chr6:142618032-142618854	HepG2	liver:	n/a	n/a
42	ELF1	chr6:142618381-142618690	HepG2	liver:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:142616393..142621187-chr6:142621251..142624872,10	MCF-7	breast:
2	chr6:142617568..142620556-chr6:142699575..142701431,2	MCF-7	breast:
3	chr6:142616281..142618889-chr6:142707145..142709982,2	MCF-7	breast:
4	chr6:142604317..142606541-chr6:142618207..142619973,2	MCF-7	breast:
5	chr6:142617299..142619130-chr6:142622644..142624388,2	K562	blood:
6	chr6:142614542..142616316-chr6:142618256..142620564,2	K562	blood:
7	chr6:142616863..142618821-chr6:142620050..142622053,2	K562	blood:
8	chr6:142617630..142619317-chr6:142622644..142625547,2	K562	blood:

No data

Variant related genes	Relation type
GPR126	TF binding region
ENSG00000112414	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs57244265	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs59260394	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs59648555	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs60258191	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs6905012	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs6906368	0.84[AMR][1000 genomes]
rs6906539	0.84[AMR][1000 genomes]
rs6920468	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6920602	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6926685	0.84[AMR][1000 genomes]
rs73576305	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs73576312	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs73576315	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs73576325	0.84[AMR][1000 genomes]
rs73576327	0.84[AMR][1000 genomes]
rs73576330	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949088	chr6:142561402-143128849	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv830825	chr6:142585242-142752575	Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1029666	chr6:142594099-142643084	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142615200-142618600	Weak transcription	Placenta	Placenta
2	chr6:142616400-142621800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr6:142616600-142619200	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr6:142617400-142618600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:142617800-142620000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:142618000-142620400	Flanking Active TSS	HepG2	liver
7	chr6:142618200-142618600	Enhancers	H9 Cell Line	embryonic stem cell
8	chr6:142618200-142618600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:142618200-142618600	Enhancers	Stomach Mucosa	stomach
10	chr6:142618200-142619200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr6:142618200-142619200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:142618200-142619200	Enhancers	A549	lung
13	chr6:142618200-142619800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr6:142618200-142620000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:142618200-142621800	Enhancers	HMEC	breast
16	chr6:142618400-142618800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:142618400-142618800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr6:142618400-142619400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:142618400-142619400	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr6:142618400-142620400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:142618400-142620400	Enhancers	NHLF	lung
22	chr6:142618400-142620600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:142618400-142621600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:142618400-142621600	Enhancers	NHEK	skin

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