Variant report

Variant	rs4713795
Chromosome Location	chr6:34430447-34430448
allele	A/T
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	MYC	chr6:34430409-34430464	NB4	blood:	n/a	n/a
2	POLR2A	chr6:34430135-34430628	HCT-116	colon:	n/a	n/a
3	TCF7L2	chr6:34430302-34430791	HCT-116	colon:	n/a	chr6:34430630-34430639 chr6:34430627-34430643
4	POLR2A	chr6:34430382-34430615	A549	lung:	n/a	n/a
5	CHD2	chr6:34430419-34430515	H1-hESC	embryonic stem cell:	n/a	n/a
6	RCOR1	chr6:34430240-34430582	K562	blood:	n/a	n/a
7	YY1	chr6:34430260-34430520	HCT-116	colon:	n/a	n/a
8	JUND	chr6:34430288-34430602	K562	blood:	n/a	n/a
9	POLR2A	chr6:34430436-34430534	MCF-7	breast:	n/a	n/a
10	TCF7L2	chr6:34430441-34430742	Hela-S3	cervix:	n/a	chr6:34430630-34430639 chr6:34430627-34430643
11	POLR2A	chr6:34430362-34430526	A549	lung:	n/a	n/a
12	NR3C1	chr6:34430315-34430720	A549	lung:	n/a	chr6:34430469-34430485 chr6:34430361-34430374 chr6:34430470-34430484 chr6:34430453-34430466 chr6:34430474-34430487
13	MYC	chr6:34430303-34430509	K562	blood:	n/a	n/a
14	KAP1	chr6:34430283-34430785	U2OS	brain:	n/a	n/a
15	POLR2A	chr6:34430388-34430545	MCF-7	breast:	n/a	n/a
16	ZNF263	chr6:34430182-34430755	K562	blood:	n/a	chr6:34430357-34430366
17	ZNF263	chr6:34430057-34430835	HEK293-T-REx	kidney:	n/a	chr6:34430357-34430366
18	TCF7L2	chr6:34430381-34430826	HEK293	kidney:	n/a	chr6:34430630-34430639 chr6:34430627-34430643
19	POLR2A	chr6:34430433-34430575	K562	blood:	n/a	n/a
20	NR3C1	chr6:34430209-34430626	A549	lung:	n/a	chr6:34430469-34430485 chr6:34430361-34430374 chr6:34430470-34430484 chr6:34430453-34430466 chr6:34430474-34430487
21	CTCF	chr6:34430444-34430451	MCF-7	breast:	n/a	n/a
22	MYC	chr6:34430300-34430545	MCF-7	breast:	n/a	n/a
23	CTCF	chr6:34430340-34430490	WERI-Rb-1	eye:	n/a	chr6:34430408-34430429
24	POLR2A	chr6:34430410-34430565	A549	lung:	n/a	n/a
25	NR3C1	chr6:34430302-34430671	A549	lung:	n/a	chr6:34430469-34430485 chr6:34430361-34430374 chr6:34430470-34430484 chr6:34430453-34430466 chr6:34430474-34430487
26	MYC	chr6:34430393-34430490	K562	blood:	n/a	n/a
27	MAX	chr6:34430284-34430488	K562	blood:	n/a	n/a
28	MAZ	chr6:34430140-34430619	K562	blood:	n/a	n/a
29	MAZ	chr6:34430352-34430549	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr6:34430289-34430618	A549	lung:	n/a	n/a
31	POLR2A	chr6:34430219-34430680	HCT-116	colon:	n/a	n/a
32	ZNF143	chr6:34430255-34430534	K562	blood:	n/a	n/a
33	KAP1	chr6:34430286-34430783	HEK293	kidney:	n/a	n/a
34	NR3C1	chr6:34430323-34430622	A549	lung:	n/a	chr6:34430469-34430485 chr6:34430361-34430374 chr6:34430470-34430484 chr6:34430453-34430466 chr6:34430474-34430487
35	MYC	chr6:34430368-34430549	MCF-7	breast:	n/a	n/a
36	SIN3A	chr6:34430437-34430627	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr6:34430310-34430573	MCF-7	breast:	n/a	n/a
38	SMC3	chr6:34430372-34430636	Hela-S3	cervix:	n/a	n/a
39	ZNF143	chr6:34430249-34430620	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:34430319..34432535-chr6:34490428..34492193,2	MCF-7	breast:
2	chr6:34430065..34432112-chr6:34462905..34465390,2	MCF-7	breast:

Variant related genes	Relation type
PACSIN1	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2395562	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3800476	0.83[AMR][1000 genomes]
rs3800477	0.83[AMR][1000 genomes]
rs4336441	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4713787	0.81[AMR][1000 genomes]
rs4713793	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9348940	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9368815	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9368817	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9380439	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv2758046	chr6:34382492-34714677	Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv2759418	chr6:34382492-34714677	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv885785	chr6:34404636-34874002	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv462904	chr6:34416388-34493012	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv602903	chr6:34416388-34493012	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	nsv885786	chr6:34426884-34542662	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34394400-34433200	Weak transcription	Right Atrium	heart
2	chr6:34428000-34432200	Enhancers	H1 Cell Line	embryonic stem cell
3	chr6:34428800-34433200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:34429000-34430800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:34429200-34431600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:34430000-34430600	Enhancers	Hela-S3	cervix
7	chr6:34430000-34430600	Flanking Active TSS	K562	blood
8	chr6:34430000-34430800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr6:34430000-34430800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr6:34430000-34430800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr6:34430000-34430800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr6:34430200-34430600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:34430200-34430600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:34430200-34430600	Enhancers	Placenta	Placenta
15	chr6:34430200-34430600	Enhancers	Pancreas	Pancrea
16	chr6:34430200-34430800	Enhancers	Fetal Heart	heart
17	chr6:34430400-34430600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr6:34430400-34430600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:34430400-34430600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:34430400-34430600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:34430400-34430600	Enhancers	H9 Cell Line	embryonic stem cell
22	chr6:34430400-34430600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:34430400-34430600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr6:34430400-34430600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr6:34430400-34430600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:34430400-34430600	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr6:34430400-34430600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:34430400-34430600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr6:34430400-34430600	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr6:34430400-34430600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:34430400-34430600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr6:34430400-34430600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:34430400-34430600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr6:34430400-34430600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr6:34430400-34430600	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr6:34430400-34430600	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr6:34430400-34430600	Enhancers	Esophagus	oesophagus
38	chr6:34430400-34430600	Enhancers	Fetal Intestine Small	intestine
39	chr6:34430400-34430600	Bivalent Enhancer	Fetal Muscle Leg	muscle
40	chr6:34430400-34430600	Enhancers	Left Ventricle	heart
41	chr6:34430400-34430600	Flanking Active TSS	A549	lung
42	chr6:34430400-34430600	Flanking Active TSS	HepG2	liver
43	chr6:34430400-34430600	Bivalent Enhancer	NHDF-Ad	bronchial
44	chr6:34430400-34430600	Bivalent Enhancer	NHLF	lung
45	chr6:34430400-34430800	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr6:34430400-34430800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr6:34430400-34430800	Enhancers	Stomach Mucosa	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links