Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:36701247..36704029-chr5:36711185..36713020,2	K562	blood:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10067333	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1025052	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10461973	0.87[ASN][1000 genomes]
rs10491377	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10941314	0.93[ASN][1000 genomes]
rs12658012	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12697368	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13160879	0.88[ASN][1000 genomes]
rs13178390	0.97[ASN][1000 genomes]
rs1566444	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16903296	0.95[ASN][1000 genomes]
rs1976377	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2161609	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6451305	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6867429	0.91[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs6878201	0.95[ASN][1000 genomes]
rs6890097	0.96[ASN][1000 genomes]
rs7709455	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7734294	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs919300	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs919301	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs986341	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv830263	chr5:36576504-36755093	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10056070	SLC1A3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36700200-36724200	Weak transcription	Primary T cells from cord blood	blood
2	chr5:36705800-36712600	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr5:36705800-36724600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr5:36709200-36721800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr5:36709600-36713800	Weak transcription	GM12878-XiMat	blood
6	chr5:36710000-36712200	Strong transcription	Primary hematopoietic stem cells	blood
7	chr5:36710000-36714200	Strong transcription	Primary B cells from cord blood	blood
8	chr5:36710000-36721200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr5:36711000-36712400	Weak transcription	Fetal Heart	heart
10	chr5:36711000-36712600	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr5:36711000-36713200	Strong transcription	Primary B cells from peripheral blood	blood
12	chr5:36711400-36714000	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr5:36711800-36721000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:36712000-36712200	Enhancers	Esophagus	oesophagus

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