Variant report

Variant	rs6714047
Chromosome Location	chr2:178973118-178973119
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:122)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HMGN3	chr2:178972998-178973200	K562	blood:	n/a	n/a
2	CHD2	chr2:178973043-178973200	K562	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:178973079-178973129	MCF10A-Er-Src	breast:	n/a
2	chr2:178973079-178973129	H1-hESC	embryonic stem cell:	embryo
3	chr2:178973079-178973129	K562	blood:	n/a
4	chr2:178973079-178973129	LNCaP	prostate:	n/a
5	chr2:178973079-178973129	NHDF-neo	bronchial:	n/a
6	chr2:178973092-178973142	Hela-S3	cervix:	n/a
7	chr2:178973079-178973129	NHBE	bronchial:	n/a
8	chr2:178973079-178973129	HIPEpiC	eye:	n/a
9	chr2:178973092-178973142	HRE	kidney:	n/a
10	chr2:178973092-178973142	HMEC	breast:	n/a
11	chr2:178973079-178973129	HNPCEpiC	eye:	n/a
12	chr2:178973079-178973129	HCF	heart:	n/a
13	chr2:178973079-178973129	NB4	blood:	n/a
14	chr2:178973092-178973142	NH-A	brain:	n/a
15	chr2:178973079-178973129	Hepatocyte	liver:	n/a
16	chr2:178973092-178973142	HAEpiC	amniotic membrane:	n/a
17	chr2:178973079-178973129	HCM	heart:	n/a
18	chr2:178973092-178973142	HCM	heart:	n/a
19	chr2:178973092-178973142	AG09309	skin:	n/a
20	chr2:178973092-178973142	HIPEpiC	eye:	n/a
21	chr2:178973092-178973142	GM12878	blood:	n/a
22	chr2:178973092-178973142	AG04449	skin:	fetal
23	chr2:178973079-178973129	MCF-7	breast:	n/a
24	chr2:178973092-178973142	RPTEC	kidney:	n/a
25	chr2:178973079-178973129	GM12878	blood:	n/a
26	chr2:178973092-178973142	NHDF-neo	bronchial:	n/a
27	chr2:178973079-178973129	AG09309	skin:	n/a
28	chr2:178973092-178973142	MCF10A-Er-Src	breast:	n/a
29	chr2:178973079-178973129	IMR90	lung:	fetal
30	chr2:178973079-178973129	HAEpiC	amniotic membrane:	n/a
31	chr2:178973092-178973142	PrEC	prostate:	n/a
32	chr2:178973092-178973142	Caco-2	colon:	n/a
33	chr2:178973079-178973129	SK-N-MC	brain:	n/a
34	chr2:178973092-178973142	HNPCEpiC	eye:	n/a
35	chr2:178973079-178973129	BJ	skin:	n/a
36	chr2:178973079-178973129	HMEC	breast:	n/a
37	chr2:178973092-178973142	HepG2	liver:	n/a
38	chr2:178973092-178973142	BE2_C	brain:	n/a
39	chr2:178973092-178973142	GM12891	blood:	n/a
40	chr2:178973092-178973142	BJ	skin:	n/a
41	chr2:178973079-178973129	HRE	kidney:	n/a
42	chr2:178973092-178973142	HRPEpiC	eye:	n/a
43	chr2:178973092-178973142	GM12892	blood:	n/a
44	chr2:178973092-178973142	PANC-1	pancreas:	n/a
45	chr2:178973092-178973142	ProgFib	skin:	n/a
46	chr2:178973079-178973129	AoSMC	blood vessel:	n/a
47	chr2:178973092-178973142	AG09319	gingival:	n/a
48	chr2:178973079-178973129	Caco-2	colon:	n/a
49	chr2:178973092-178973142	GM19239	blood:	n/a
50	chr2:178973092-178973142	HEEpiC	esophagus:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178970656..178974678-chr2:178975520..178979270,3	K562	blood:
2	chr2:178972756..178975132-chr2:178975866..178978416,2	MCF-7	breast:

No data

Variant related genes	Relation type
CYCTP	TF binding region
PDE11A	TF binding region
RBM45	TF binding region
PDE11A	CpG island
RBM45	CpG island
CYCTP	CpG island
ENSG00000155636	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10176475	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10198111	0.88[CHB][hapmap]
rs10432485	0.89[JPT][hapmap]
rs11674668	0.83[CHB][hapmap]
rs11886139	0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11887974	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11899905	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13408924	0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1347441	0.89[CHB][hapmap]
rs1369515	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1369517	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1435571	0.94[JPT][hapmap]
rs2034255	0.93[ASN][1000 genomes]
rs2043547	0.83[CHB][hapmap]
rs2163647	0.94[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs2217838	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4300869	0.94[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs56103916	0.95[ASN][1000 genomes]
rs6433709	0.88[CHB][hapmap]
rs6709256	0.83[CHB][hapmap]
rs6709343	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6710329	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6738461	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6740828	0.95[ASN][1000 genomes]
rs6754705	0.95[ASN][1000 genomes]
rs736842	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7583491	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7608073	0.83[CHB][hapmap]
rs9288014	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv583739	chr2:178942302-178993562	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv518790	chr2:178963445-179000291	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178971200-178976800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:178973000-178973200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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