Variant report

Variant	rs7980336
Chromosome Location	chr12:41693320-41693321
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11180557	1.00[CHB][hapmap]
rs11180590	1.00[CHB][hapmap]
rs11180661	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12297169	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12306167	1.00[CHB][hapmap]
rs1560448	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17129118	1.00[CEU][hapmap]
rs17129138	1.00[CEU][hapmap]
rs17129215	0.81[AFR][1000 genomes]
rs17129216	0.81[AFR][1000 genomes]
rs1897230	1.00[CEU][hapmap]
rs55917050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59740712	0.82[ASN][1000 genomes]
rs60615123	0.82[ASN][1000 genomes]
rs60683724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6582291	1.00[CHB][hapmap]
rs6582304	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6582305	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7295707	1.00[CEU][hapmap]
rs7298753	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7304777	0.88[YRI][hapmap]
rs73117091	0.82[ASN][1000 genomes]
rs73117097	0.82[ASN][1000 genomes]
rs73120909	0.82[ASN][1000 genomes]
rs73122829	1.00[ASN][1000 genomes]
rs73122831	0.89[AFR][1000 genomes]
rs73122838	1.00[AFR][1000 genomes]
rs73122844	0.95[AFR][1000 genomes]
rs73122851	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7958277	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes]
rs7958391	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7958538	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs7959120	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7961153	1.00[CHB][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7961270	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7962171	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7971709	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7979212	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	nsv832383	chr12:41693298-41846934	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41693000-41696200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr12:41693200-41697400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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