Variant report

Variant	rs13024682
Chromosome Location	chr2:183107243-183107244
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
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	CEBPB	chr2:183107052-183107283	A549	lung:	n/a	n/a
2	CEBPB	chr2:183107018-183107332	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:183107220-183107270	MCF-7	breast:	n/a
2	chr2:183107220-183107270	Jurkat	blood:	n/a
3	chr2:183107220-183107270	GM12891	blood:	n/a
4	chr2:183107220-183107270	HRPEpiC	eye:	n/a
5	chr2:183107220-183107270	AG04450	lung:	fetal
6	chr2:183107220-183107270	HRCEpiC	kidney:	n/a
7	chr2:183107220-183107270	HNPCEpiC	eye:	n/a
8	chr2:183107220-183107270	SKMC	muscle:	n/a
9	chr2:183107220-183107270	PFSK-1	brain:	n/a
10	chr2:183107220-183107270	AG04449	skin:	fetal
11	chr2:183107220-183107270	SK-N-SH_RA	brain:	n/a
12	chr2:183107220-183107270	HCT-116	colon:	n/a
13	chr2:183107220-183107270	RPTEC	kidney:	n/a
14	chr2:183107220-183107270	HCPEpiC	choroid plexus:	n/a
15	chr2:183107220-183107270	HEEpiC	esophagus:	n/a
16	chr2:183107220-183107270	NH-A	brain:	n/a
17	chr2:183107220-183107270	AoSMC	blood vessel:	n/a
18	chr2:183107220-183107270	AG10803	skin:	n/a
19	chr2:183107220-183107270	GM12892	blood:	n/a
20	chr2:183107220-183107270	ProgFib	skin:	n/a
21	chr2:183107220-183107270	HPAEpiC	pulmonary alveolar:	n/a
22	chr2:183107220-183107270	U87	brain:	n/a
23	chr2:183107220-183107270	SK-N-SH	brain:	n/a
24	chr2:183107220-183107270	IMR90	lung:	fetal
25	chr2:183107220-183107270	K562	blood:	n/a
26	chr2:183107220-183107270	GM19239	blood:	n/a
27	chr2:183107220-183107270	H1-hESC	embryonic stem cell:	embryo
28	chr2:183107220-183107270	HAEpiC	amniotic membrane:	n/a
29	chr2:183107220-183107270	PANC-1	pancreas:	n/a
30	chr2:183107220-183107270	NT2-D1	testis:	n/a
31	chr2:183107220-183107270	HEK293	kidney:	embryo
32	chr2:183107220-183107270	MCF10A-Er-Src	breast:	n/a
33	chr2:183107220-183107270	PrEC	prostate:	n/a
34	chr2:183107220-183107270	Hepatocyte	liver:	n/a
35	chr2:183107220-183107270	HCM	heart:	n/a
36	chr2:183107220-183107270	HL-60	blood:	n/a
37	chr2:183107220-183107270	HepG2	liver:	n/a
38	chr2:183107220-183107270	HIPEpiC	eye:	n/a
39	chr2:183107220-183107270	T-47D	breast:	n/a
40	chr2:183107220-183107270	HUVEC	blood vessel:	n/a
41	chr2:183107220-183107270	AG09309	skin:	n/a
42	chr2:183107220-183107270	Caco-2	colon:	n/a
43	chr2:183107220-183107270	ovcar-3	ovarian:	n/a
44	chr2:183107220-183107270	NHDF-neo	bronchial:	n/a
45	chr2:183107220-183107270	NHBE	bronchial:	n/a
46	chr2:183107220-183107270	HMEC	breast:	n/a
47	chr2:183107220-183107270	SK-N-MC	brain:	n/a
48	chr2:183107220-183107270	Hela-S3	cervix:	n/a
49	chr2:183107220-183107270	GM12878	blood:	n/a
50	chr2:183107220-183107270	NB4	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:183103040..183104711-chr2:183106820..183108898,2	K562	blood:

No data

Variant related genes	Relation type
PDE1A	TF binding region
PDE1A	CpG island

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10180233	0.86[ASW][hapmap];0.89[LWK][hapmap];0.95[YRI][hapmap]
rs10193166	1.00[YRI][hapmap]
rs11690832	0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11893572	0.83[LWK][hapmap];0.95[YRI][hapmap]
rs11895090	0.86[ASW][hapmap];0.89[LWK][hapmap];0.95[YRI][hapmap]
rs12994855	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1471587	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1594617	0.96[CEU][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes]
rs4666821	0.80[EUR][1000 genomes]
rs6433958	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap]
rs6734332	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6741055	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv583913	chr2:183043563-183243313	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv533782	chr2:183059730-183500040	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1008825	chr2:183067339-183228668	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv536066	chr2:183067339-183228668	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1805452	chr2:183086478-183107270	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1809585	chr2:183086478-183107270	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183104600-183112800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:183105000-183109400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:183105000-183110600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:183105800-183107600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:183105800-183107600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:183105800-183107600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr2:183105800-183107800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr2:183106200-183107800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:183106200-183109600	Weak transcription	Right Ventricle	heart
10	chr2:183106400-183138400	Weak transcription	Aorta	Aorta
11	chr2:183106600-183107400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:183107000-183107400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:183107000-183107800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:183107200-183108200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:183107200-183108200	Enhancers	Fetal Brain Male	brain
16	chr2:183107200-183109200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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