Variant report

Variant	rs13028133
Chromosome Location	chr2:50344014-50344015
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:50343694..50346494-chr2:50347691..50350682,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10176034	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10203599	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10209998	0.84[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10432670	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10490239	0.91[ASW][hapmap];0.84[CEU][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10490242	0.88[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.94[YRI][hapmap]
rs11892979	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs12615968	0.91[ASW][hapmap];0.88[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.97[MKK][hapmap];0.93[TSI][hapmap];0.94[YRI][hapmap]
rs12713086	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13008902	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.98[TSI][hapmap];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13010879	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13016084	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13026006	0.94[YRI][hapmap]
rs13030305	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13430861	0.91[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.94[YRI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1403654	0.86[JPT][hapmap]
rs1476196	0.86[JPT][hapmap]
rs1523357	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1563018	0.89[CHB][hapmap];0.94[YRI][hapmap]
rs17039291	0.91[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.93[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];0.94[YRI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1712886	0.89[CHB][hapmap]
rs1715983	0.80[CHD][hapmap];0.82[MEX][hapmap];0.94[YRI][hapmap]
rs2351155	1.00[CHB][hapmap];0.97[CHD][hapmap];0.82[MEX][hapmap]
rs2678222	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2678223	0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2678224	0.94[CHB][hapmap];0.81[JPT][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2688890	0.88[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2688891	0.84[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs527673	0.89[CHB][hapmap];0.94[YRI][hapmap]
rs593468	0.83[CHB][hapmap];0.94[YRI][hapmap]
rs598426	0.89[CHB][hapmap]
rs598474	0.87[CHB][hapmap];0.94[YRI][hapmap]
rs610969	0.88[CHB][hapmap]
rs613166	0.89[CHB][hapmap]
rs6545153	0.91[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6714191	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6755305	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs689174	0.89[CHB][hapmap];0.94[YRI][hapmap]
rs7560239	0.83[CHB][hapmap]
rs7572610	0.94[CHB][hapmap];0.87[YRI][hapmap]
rs7606758	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.98[TSI][hapmap];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9309178	0.89[CHB][hapmap];0.86[JPT][hapmap];0.89[YRI][hapmap];0.86[ASN][1000 genomes]
rs973364	0.91[ASW][hapmap];0.84[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.93[JPT][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs974827	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs985131	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs985132	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs995624	0.84[CEU][hapmap];0.89[CHB][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388948	chr2:50092667-50602681	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3399511	chr2:50092687-50602651	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv934303	chr2:50145598-50412189	Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv932915	chr2:50306630-50628415	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv2755683	chr2:50307245-50345280	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv2756107	chr2:50307245-50440043	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv948833	chr2:50307245-50459077	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv2756536	chr2:50313811-50375695	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1002344	chr2:50326207-50518933	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv535692	chr2:50326207-50518933	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50330400-50345600	Weak transcription	Fetal Brain Male	brain
2	chr2:50337400-50349400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:50342600-50346000	Enhancers	Fetal Intestine Small	intestine
4	chr2:50342800-50345800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr2:50343200-50346000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:50343200-50346800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:50343200-50347200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:50343400-50344200	Enhancers	Small Intestine	intestine
9	chr2:50343600-50344200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:50343600-50344200	Enhancers	Duodenum Mucosa	Duodenum
11	chr2:50343600-50344400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr2:50343600-50344600	Enhancers	Fetal Intestine Large	intestine
13	chr2:50343600-50344600	Weak transcription	Fetal Kidney	kidney
14	chr2:50343600-50346000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:50343600-50346800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:50343800-50344200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr2:50343800-50344200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr2:50343800-50344400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr2:50343800-50344600	Enhancers	Fetal Brain Female	brain
20	chr2:50343800-50345200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:50343800-50345800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr2:50344000-50345200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:50344000-50345800	Weak transcription	Stomach Mucosa	stomach

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