Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:113340678..113342396-chr2:113662998..113664820,2	K562	blood:

Variant related genes	Relation type
ENSG00000125611	Chromatin interaction

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10174484	1.00[MEX][hapmap]
rs17042569	1.00[AMR][1000 genomes]
rs2466449	1.00[EUR][1000 genomes]
rs2708918	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2708922	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2708923	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2708934	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2708972	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2723153	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2723155	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2723161	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2723172	1.00[ASW][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2723176	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs2723186	1.00[EUR][1000 genomes]
rs2723191	1.00[EUR][1000 genomes]
rs2723194	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2723195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3917349	1.00[EUR][1000 genomes]
rs3917367	1.00[AMR][1000 genomes]
rs4392270	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4848305	1.00[EUR][1000 genomes]
rs7602680	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7608836	1.00[MEX][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv961338	chr2:113657963-113691422	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 2 peripheral neuropathy)	24554482	GWAS catalog

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113663400-113664000	Weak transcription	Fetal Intestine Large	intestine
2	chr2:113663400-113665000	Enhancers	HMEC	breast
3	chr2:113663600-113664800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:113663600-113665600	Weak transcription	Fetal Heart	heart
5	chr2:113663800-113664400	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr2:113663800-113664800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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