Variant report

Variant	rs4530328
Chromosome Location	chr2:180414913-180414914
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	chr2:180405427..180408122-chr2:180413189..180415887,2	MCF-7	breast:

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10169569	1.00[JPT][hapmap]
rs11674582	1.00[ASW][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11683272	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11688895	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11695089	1.00[MEX][hapmap]
rs11894850	1.00[JPT][hapmap]
rs12693194	1.00[JPT][hapmap]
rs12986652	1.00[CEU][hapmap]
rs12991713	1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13000199	1.00[CEU][hapmap]
rs13002104	0.92[EUR][1000 genomes]
rs13030456	1.00[JPT][hapmap]
rs13035596	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1399692	1.00[JPT][hapmap]
rs1515297	1.00[JPT][hapmap]
rs1515298	1.00[JPT][hapmap]
rs16866782	1.00[JPT][hapmap]
rs16866810	1.00[CEU][hapmap]
rs16866834	1.00[MEX][hapmap]
rs16866857	1.00[CEU][hapmap]
rs17816271	1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[ASN][1000 genomes]
rs2203459	1.00[JPT][hapmap]
rs2222032	0.85[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3112931	1.00[JPT][hapmap]
rs34017185	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35279307	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35821053	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35860816	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36040054	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4267476	1.00[JPT][hapmap]
rs6433796	1.00[JPT][hapmap]
rs6722937	1.00[ASW][hapmap];0.94[GIH][hapmap];0.86[JPT][hapmap];0.92[TSI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71425634	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71425635	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71425637	0.94[EUR][1000 genomes]
rs7579911	1.00[JPT][hapmap]
rs868271	1.00[JPT][hapmap]
rs868273	1.00[JPT][hapmap]
rs868274	1.00[JPT][hapmap]
rs951427	1.00[MEX][hapmap]
rs999000	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

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	esv11473	chr2:180411419-180415632	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
20	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
21	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
22	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
23	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
24	nsv583867	chr2:180413586-180414976	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
25	nsv583868	chr2:180413586-180415027	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
26	nsv583869	chr2:180413586-180415257	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
27	nsv583870	chr2:180413586-180415580	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
28	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
29	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
30	nsv583873	chr2:180413690-180414976	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
31	nsv583874	chr2:180413690-180415257	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
32	nsv583875	chr2:180413690-180415529	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
33	nsv583876	chr2:180413690-180415580	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
34	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
35	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
36	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
37	nsv583879	chr2:180413834-180415091	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
38	nsv583880	chr2:180413834-180415257	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
39	nsv583881	chr2:180413834-180415580	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
40	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
41	nsv583883	chr2:180414140-180415198	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
42	nsv583884	chr2:180414140-180415580	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
43	nsv583885	chr2:180414206-180415198	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
44	nsv583886	chr2:180414206-180415257	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
45	nsv583887	chr2:180414206-180415529	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
46	nsv583888	chr2:180414206-180415580	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
47	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
48	nsv583890	chr2:180414454-180415529	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
49	nsv583891	chr2:180414454-180415580	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
50	nsv583892	chr2:180414517-180415580	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 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	chr2:180408800-180415600	Weak transcription	Fetal Brain Female	brain
3	chr2:180410000-180415400	Weak transcription	Liver	Liver
4	chr2:180410200-180415400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:180410600-180416200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:180413800-180416200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
7	chr2:180414000-180416200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr2:180414000-180416400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:180414000-180416800	Enhancers	HepG2	liver
10	chr2:180414200-180416600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr2:180414200-180417000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr2:180414400-180415000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:180414600-180415000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr2:180414600-180415400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:180414800-180415400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:180414800-180415600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr2:180414800-180415600	Enhancers	Fetal Brain Male	brain
18	chr2:180414800-180416000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:180414800-180417000	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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