Variant report

Variant	rs12510173
Chromosome Location	chr4:110843260-110843261
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:110838362..110842367-chr4:110842541..110847898,5	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10014805	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10015002	0.89[EUR][1000 genomes]
rs10017564	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10021157	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10025078	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10025276	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11098057	0.81[CHB][hapmap];0.84[AMR][1000 genomes]
rs11568904	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12503113	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12506489	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12506702	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12640600	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1860129	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2074390	0.83[AMR][1000 genomes]
rs2190907	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2237040	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2237049	0.84[CHB][hapmap];0.84[AMR][1000 genomes]
rs2237051	0.84[CHB][hapmap];0.84[AMR][1000 genomes]
rs2237052	0.94[CHB][hapmap];0.82[AMR][1000 genomes]
rs2237053	0.89[CHB][hapmap];0.82[AMR][1000 genomes]
rs2282784	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2298978	0.96[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2298979	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2298983	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2298989	0.89[CHB][hapmap];0.92[JPT][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2298991	0.83[CEU][hapmap];0.81[YRI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2298992	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2298993	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2347137	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2881559	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3796944	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3796948	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4444903	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6533482	0.96[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6533483	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6824594	0.84[AMR][1000 genomes]
rs6855847	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs882405	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs882471	0.83[AMR][1000 genomes]
rs929446	0.88[CEU][hapmap];0.90[CHB][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9994491	0.89[EUR][1000 genomes]
rs9994509	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530156	chr4:110721397-110911297	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	esv1806286	chr4:110837287-110845707	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv1811274	chr4:110837287-110845707	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv1814770	chr4:110837287-110845707	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv1810403	chr4:110840522-110845807	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1811374	chr4:110840522-110845807	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3467314	chr4:110840629-110845839	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv1804200	chr4:110840722-110845607	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv1804491	chr4:110840722-110845607	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv1805263	chr4:110840722-110848490	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3467315	chr4:110840725-110845741	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3467316	chr4:110840739-110845739	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv290769	chr4:110840741-110845738	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv1804393	chr4:110840748-110845707	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv1806215	chr4:110840748-110845707	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv1807950	chr4:110840748-110845707	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv1808099	chr4:110840748-110845707	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv1810771	chr4:110840748-110845707	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv1811954	chr4:110840748-110845707	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	esv1812266	chr4:110840748-110845707	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	esv1815111	chr4:110840748-110845707	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	esv1815159	chr4:110840748-110845707	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	esv1804723	chr4:110840748-110846796	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	esv1804837	chr4:110840748-110846796	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	esv1808922	chr4:110840748-110846796	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
26	esv1813652	chr4:110840748-110846796	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
27	esv1813951	chr4:110840748-110862637	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
28	esv9973	chr4:110840754-110845757	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110834400-110844800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:110836800-110849400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:110837800-110846000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr4:110840600-110849200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:110840800-110844000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:110841600-110843600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr4:110842000-110843400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr4:110842000-110843400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr4:110842000-110844000	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr4:110842400-110843400	Enhancers	Placenta Amnion	Placenta Amnion
11	chr4:110842600-110844000	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr4:110842800-110844000	Enhancers	Psoas Muscle	Psoas
13	chr4:110842800-110849200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr4:110843000-110876200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:110843200-110845000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:110843200-110849200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr4:110843200-110851000	Weak transcription	Pancreas	Pancrea

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