Variant report

Variant	rs12997959
Chromosome Location	chr2:67114996-67114997
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10167484	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];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10170124	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10171004	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10176733	0.97[ASN][1000 genomes]
rs10177813	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10183135	0.94[ASN][1000 genomes]
rs10186923	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10190086	0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10197753	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10496137	0.91[CHB][hapmap]
rs1110585	0.85[AFR][1000 genomes]
rs1111235	0.85[AFR][1000 genomes]
rs11677614	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12713575	0.90[ASN][1000 genomes]
rs12713576	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs12713578	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12713584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12713585	0.87[ASN][1000 genomes]
rs12713586	0.83[ASN][1000 genomes]
rs12713587	0.91[CHB][hapmap];0.81[ASN][1000 genomes]
rs12995173	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12998082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13007060	0.91[ASN][1000 genomes]
rs13009433	0.93[ASN][1000 genomes]
rs13015121	0.94[ASN][1000 genomes]
rs13020124	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13032699	0.87[ASN][1000 genomes]
rs13416909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13420432	0.80[AFR][1000 genomes]
rs1559602	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17632177	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2113769	0.94[ASN][1000 genomes]
rs2161975	0.93[ASN][1000 genomes]
rs2194660	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2194663	0.93[ASN][1000 genomes]
rs2194666	0.90[ASN][1000 genomes]
rs2216924	0.90[ASN][1000 genomes]
rs2861285	0.87[ASN][1000 genomes]
rs35156489	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4671161	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4671752	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4671754	0.86[AFR][1000 genomes]
rs4671755	0.83[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4671756	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs6715872	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6728659	0.93[ASN][1000 genomes]
rs6728760	0.93[ASN][1000 genomes]
rs7594571	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7601449	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874246	chr2:67001969-67147854	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv874247	chr2:67105342-67141322	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
3	esv2762259	chr2:67109728-67165987	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67112400-67117800	Enhancers	Colon Smooth Muscle	Colon
2	chr2:67112800-67124200	Weak transcription	Pancreas	Pancrea
3	chr2:67113200-67115400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:67113200-67115800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:67113800-67115000	Enhancers	Fetal Lung	lung
6	chr2:67114800-67115000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:67114800-67115000	Enhancers	Fetal Stomach	stomach
8	chr2:67114800-67115800	Weak transcription	NHLF	lung

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