Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:190448074..190449760-chr2:190450257..190453070,2	K562	blood:
2	chr2:190450349..190453063-chr2:190453143..190455266,2	K562	blood:
3	chr2:190303322..190305954-chr2:190450812..190452876,2	K562	blood:

Variant related genes	Relation type
ENSG00000138449	Chromatin interaction

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10177654	0.96[EUR][1000 genomes]
rs10188680	0.96[CEU][hapmap];0.96[EUR][1000 genomes]
rs11694919	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12465298	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12619013	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12986707	1.00[YRI][hapmap]
rs1347708	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1370593	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1437885	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17198983	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2352267	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs2352270	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4287798	0.80[AMR][1000 genomes]
rs4666778	0.83[EUR][1000 genomes]
rs6712505	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6718734	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6718798	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs6733858	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6741965	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7590106	0.96[CEU][hapmap];0.95[EUR][1000 genomes]

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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190447400-190452200	Weak transcription	Primary T cells from cord blood	blood
2	chr2:190448400-190457400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:190448600-190451400	Enhancers	Ovary	ovary
4	chr2:190449800-190452400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr2:190450200-190451200	Weak transcription	HepG2	liver
6	chr2:190450400-190452400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:190450600-190452200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:190450600-190452600	Weak transcription	Stomach Mucosa	stomach
9	chr2:190450600-190455200	Weak transcription	K562	blood

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