Variant report

Variant	rs1560448
Chromosome Location	chr12:41683569-41683570
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11180557	1.00[CHB][hapmap]
rs11180590	1.00[CHB][hapmap]
rs11180661	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.95[TSI][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12297169	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12306167	1.00[CHB][hapmap]
rs17129215	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17129216	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6582291	1.00[CHB][hapmap]
rs6582304	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes]
rs6582305	0.83[AFR][1000 genomes]
rs7298753	0.88[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];0.92[ASN][1000 genomes]
rs73122828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122829	1.00[AFR][1000 genomes]
rs73122830	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73122831	1.00[ASN][1000 genomes]
rs73122836	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122838	0.92[ASN][1000 genomes]
rs73122844	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73122851	0.83[AFR][1000 genomes]
rs7958277	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7958391	0.81[AFR][1000 genomes]
rs7958538	0.91[ASW][hapmap];0.88[LWK][hapmap];0.83[AFR][1000 genomes]
rs7959120	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7961153	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes]
rs7961270	0.83[AFR][1000 genomes]
rs7962171	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7971709	1.00[JPT][hapmap];0.83[AFR][1000 genomes]
rs7979212	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes]
rs7980336	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv899034	chr12:41515090-41698342	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv899035	chr12:41548545-41710912	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv469364	chr12:41631105-41710912	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
5	nsv558699	chr12:41631105-41710912	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv558700	chr12:41665279-41710912	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41671200-41684600	Weak transcription	Ovary	ovary
2	chr12:41680400-41683600	Enhancers	Fetal Kidney	kidney
3	chr12:41680600-41688000	Weak transcription	Aorta	Aorta
4	chr12:41681800-41685800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:41682200-41687200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:41682600-41683800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:41682600-41685600	Weak transcription	Fetal Intestine Large	intestine
8	chr12:41683200-41683600	Enhancers	Brain Germinal Matrix	brain
9	chr12:41683200-41684000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:41683400-41684000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:41683400-41684000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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