Variant report

Variant	rs4267476
Chromosome Location	chr2:180416576-180416577
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10169569	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11674582	1.00[JPT][hapmap]
rs11683272	1.00[JPT][hapmap]
rs11688895	1.00[JPT][hapmap]
rs11888508	0.95[CEU][hapmap];0.83[YRI][hapmap];0.81[AMR][1000 genomes]
rs11894850	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693194	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12991713	1.00[JPT][hapmap]
rs12997546	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13030456	1.00[JPT][hapmap]
rs13035596	1.00[JPT][hapmap]
rs1399692	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1515297	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1515298	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16866767	0.84[YRI][hapmap]
rs16866782	1.00[JPT][hapmap]
rs17816271	1.00[JPT][hapmap]
rs2203459	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2222032	0.85[JPT][hapmap]
rs3112926	0.82[ASN][1000 genomes]
rs3112931	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs3112933	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4530328	1.00[JPT][hapmap]
rs56201866	1.00[ASN][1000 genomes]
rs62179171	1.00[ASN][1000 genomes]
rs6433796	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6722937	0.86[JPT][hapmap]
rs7579911	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs868271	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs868272	0.82[ASN][1000 genomes]
rs868273	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs868274	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs999000	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875470	chr2:180400021-180432529	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv523865	chr2:180403128-180426764	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv437591	chr2:180409011-180423183	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1006031	chr2:180409264-180422125	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1004911	chr2:180409458-180421894	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1011786	chr2:180409458-180422125	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv2760587	chr2:180409470-180430552	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1005119	chr2:180409582-180422125	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1011707	chr2:180409617-180422125	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv10203	chr2:180410181-180423829	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3525539	chr2:180410257-180416805	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3525540	chr2:180410257-180416805	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv961759	chr2:180410275-180422807	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv3348308	chr2:180410657-180423155	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv1004450	chr2:180410991-180421485	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv1009304	chr2:180410991-180422125	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
17	esv2763635	chr2:180411003-180425692	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv1002302	chr2:180411129-180422125	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
19	esv11061	chr2:180412903-180422173	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv1002389	chr2:180413350-180425692	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
21	esv2421887	chr2:180413362-180422137	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
22	esv3584771	chr2:180413362-180422137	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
23	nsv583871	chr2:180413586-180421514	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
24	nsv583872	chr2:180413586-180421924	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
25	nsv583877	chr2:180413690-180421516	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
26	nsv583878	chr2:180413690-180421924	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
27	nsv508186	chr2:180413770-180422739	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
28	nsv583882	chr2:180413834-180421924	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
29	nsv583889	chr2:180414206-180421924	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
30	nsv583893	chr2:180414517-180421516	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
31	nsv583894	chr2:180414517-180421924	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
32	esv2830113	chr2:180414913-180421668	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
33	esv2830281	chr2:180414913-180421668	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
34	esv3693443	chr2:180414913-180421668	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
35	nsv583896	chr2:180414913-180421668	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
36	esv3505278	chr2:180415507-180423555	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
37	esv3427776	chr2:180415644-180416660	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
38	esv21071	chr2:180415733-180416630	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
39	esv1827207	chr2:180415808-180420497	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
40	esv1829358	chr2:180415808-180420615	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
41	esv3505279	chr2:180416057-180423555	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	diseases
42	esv3505280	chr2:180416057-180423555	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
43	nsv583897	chr2:180416544-180421924	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
44	nsv583898	chr2:180416576-180421290	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	inside rSNPs	diseases
45	nsv583899	chr2:180416576-180421924	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180408400-180423400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:180414000-180416800	Enhancers	HepG2	liver
3	chr2:180414200-180416600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr2:180414200-180417000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr2:180414800-180417000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr2:180415400-180416600	Enhancers	H9 Cell Line	embryonic stem cell
7	chr2:180415400-180416600	Enhancers	Liver	Liver
8	chr2:180415600-180426600	Weak transcription	Fetal Brain Male	brain
9	chr2:180415800-180416600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
10	chr2:180415800-180432400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:180416200-180416600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:180416200-180416600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:180416200-180416600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:180416200-180420400	Weak transcription	Fetal Brain Female	brain
15	chr2:180416400-180416600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr2:180416400-180417000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr2:180416400-180417000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
18	chr2:180416400-180417400	Enhancers	HUES48 Cell Line	embryonic stem cell

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