Variant report

Variant	rs1430147
Chromosome Location	chr2:183272945-183272946
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	chr2:183261575..183263356-chr2:183271922..183273654,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10207132	0.94[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs10497598	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10497600	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10497601	1.00[YRI][hapmap]
rs10497602	1.00[YRI][hapmap]
rs10497603	1.00[YRI][hapmap]
rs10931012	0.84[JPT][hapmap]
rs11684406	0.84[JPT][hapmap]
rs11686025	0.82[CEU][hapmap];0.86[CHB][hapmap];0.92[JPT][hapmap]
rs12466618	1.00[YRI][hapmap]
rs12468232	1.00[YRI][hapmap]
rs12468346	1.00[YRI][hapmap]
rs12478132	1.00[YRI][hapmap]
rs12479259	1.00[YRI][hapmap]
rs13407156	0.95[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13417045	0.84[CEU][hapmap]
rs1346775	1.00[YRI][hapmap]
rs1367203	0.94[CEU][hapmap];0.87[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap]
rs1430148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1430158	0.84[JPT][hapmap]
rs1564542	0.80[CEU][hapmap]
rs1583114	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16823233	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16823254	0.94[CEU][hapmap];0.87[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes]
rs16823257	0.94[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap]
rs17265027	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17265061	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17265189	1.00[YRI][hapmap]
rs17356152	0.94[JPT][hapmap]
rs17356166	0.94[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17356207	0.94[CEU][hapmap];0.87[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap]
rs17356296	1.00[YRI][hapmap]
rs17356303	1.00[YRI][hapmap]
rs1946815	0.94[JPT][hapmap]
rs28569979	0.81[ASN][1000 genomes]
rs34103461	0.94[CEU][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs4496292	1.00[YRI][hapmap]
rs4666837	1.00[YRI][hapmap]
rs58663992	0.81[EUR][1000 genomes]
rs62188260	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62188266	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62188267	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs62188268	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62188269	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62188270	0.81[ASN][1000 genomes]
rs62188283	0.81[ASN][1000 genomes]
rs62188284	0.81[ASN][1000 genomes]
rs62188286	0.81[ASN][1000 genomes]
rs62188287	0.81[ASN][1000 genomes]
rs62188288	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62188289	0.81[EUR][1000 genomes]
rs62190186	0.85[EUR][1000 genomes]
rs62190200	0.81[EUR][1000 genomes]
rs62190201	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6760364	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv834481	chr2:183189758-183339577	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv516110	chr2:183272460-183272945	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183260800-183281600	Weak transcription	Aorta	Aorta
2	chr2:183271400-183277200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:183271400-183277400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:183272000-183275000	Weak transcription	NHLF	lung
5	chr2:183272000-183285000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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