Variant report

Variant	rs17129215
Chromosome Location	chr12:41687088-41687089
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11180661	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12297169	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1560448	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17129216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55917050	0.81[AFR][1000 genomes]
rs60683724	0.81[AFR][1000 genomes]
rs6582304	0.85[AFR][1000 genomes]
rs6582305	0.85[AFR][1000 genomes]
rs7298753	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73122828	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122829	0.98[AFR][1000 genomes]
rs73122830	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73122831	1.00[ASN][1000 genomes]
rs73122836	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122838	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs73122844	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73122851	0.85[AFR][1000 genomes]
rs7958277	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7958391	0.83[AFR][1000 genomes]
rs7958538	0.85[AFR][1000 genomes]
rs7959120	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7961153	0.85[AFR][1000 genomes]
rs7961270	0.85[AFR][1000 genomes]
rs7962171	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7971709	0.85[AFR][1000 genomes]
rs7979212	0.85[AFR][1000 genomes]
rs7980336	0.81[AFR][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	esv20846	chr12:41685767-41687157	Enhancers Weak transcription Flanking Active TSS	n/a	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	chr12:41680600-41688000	Weak transcription	Aorta	Aorta
2	chr12:41682200-41687200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr12:41685800-41687600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:41685800-41687600	Enhancers	Hela-S3	cervix
5	chr12:41685800-41687800	Enhancers	HMEC	breast
6	chr12:41686000-41687600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:41686400-41687400	Weak transcription	Fetal Intestine Large	intestine
8	chr12:41686600-41687400	Enhancers	Placenta Amnion	Placenta Amnion
9	chr12:41686600-41692600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:41686800-41687400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:41686800-41687400	Flanking Active TSS	NHEK	skin

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