Variant report

Variant	rs2496588
Chromosome Location	chr6:143733124-143733125
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:143718480..143721227-chr6:143732641..143735012,2	K562	blood:
2	chr6:143721171..143724032-chr6:143732574..143734874,2	K562	blood:
3	chr6:143729967..143734343-chr6:143743394..143748641,6	K562	blood:
4	chr6:143729967..143733929-chr6:143743394..143746871,5	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1138410	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12215708	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12215709	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17072606	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2432871	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2432872	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2432873	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2473453	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2473454	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2496586	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2496587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2496589	0.85[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs2496591	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2496594	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2496595	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2496596	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2496597	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35220041	1.00[ASN][1000 genomes]
rs3748071	1.00[JPT][hapmap]
rs4605902	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55865962	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56336947	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6570561	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6915676	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6915856	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6921292	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6921520	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6921706	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72988621	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72988635	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7740441	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7744361	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7755370	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7761741	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9321907	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9321908	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9321909	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9321910	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9321911	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9321912	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9399444	1.00[CHB][hapmap]
rs9484744	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9484745	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9484746	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9484747	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9484748	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9484749	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9484750	0.95[CEU][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9484752	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9484753	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[ASN][1000 genomes]
rs9496615	1.00[ASN][1000 genomes]
rs9496616	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9496617	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9496618	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9496619	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9496620	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9496621	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9496622	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9496627	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9496628	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9496629	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9496630	0.82[EUR][1000 genomes]
rs9496631	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9496632	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9496633	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9496634	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9496635	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9496636	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9496637	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9496639	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9496640	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9496642	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9496643	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9496644	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs9496649	1.00[CHB][hapmap];0.90[YRI][hapmap]
rs9496650	0.90[YRI][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2496588	ADAT2	cis	Esophagus Muscularis	GTEx

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143706600-143757400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:143719200-143753200	Weak transcription	Aorta	Aorta
3	chr6:143724200-143748200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr6:143726600-143735000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:143726800-143765000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr6:143727600-143753200	Weak transcription	Ovary	ovary
7	chr6:143728200-143735000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:143729800-143733200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr6:143729800-143735600	Enhancers	HepG2	liver
10	chr6:143730400-143733200	Enhancers	HMEC	breast
11	chr6:143731400-143733200	Enhancers	Osteobl	bone
12	chr6:143731600-143733400	Enhancers	NH-A	brain
13	chr6:143731800-143733200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:143731800-143743400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:143731800-143747400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:143732200-143736600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr6:143732600-143733200	Enhancers	A549	lung
18	chr6:143732600-143733800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:143732600-143751000	Weak transcription	Fetal Intestine Small	intestine
20	chr6:143732600-143753200	Weak transcription	Hela-S3	cervix
21	chr6:143732800-143734000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr6:143733000-143733200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:143733000-143734400	Weak transcription	NHEK	skin

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