Variant report

Variant	rs1293970
Chromosome Location	chr1:186258229-186258230
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:186257389..186259569-chr1:186261742..186263895,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1293971	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1293987	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1293988	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1293989	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];0.96[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13375677	0.85[JPT][hapmap]
rs611141	1.00[JPT][hapmap]
rs648367	1.00[JPT][hapmap]
rs857588	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[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	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1293970	IVNS1ABP	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186255800-186258800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr1:186256400-186259600	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr1:186256600-186259400	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr1:186256600-186259600	Enhancers	K562	blood
5	chr1:186256800-186260200	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr1:186256800-186260400	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr1:186257000-186258400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:186257000-186259000	Enhancers	Primary T cells fromperipheralblood	blood
9	chr1:186257000-186259800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr1:186257000-186260000	Enhancers	Primary T cells from cord blood	blood
11	chr1:186257000-186260000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:186257000-186260000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr1:186257200-186259400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:186257200-186262000	Weak transcription	Thymus	Thymus
15	chr1:186257400-186259200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:186257400-186260400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr1:186257600-186258800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:186257600-186260000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:186257800-186258800	Enhancers	Fetal Thymus	thymus
20	chr1:186258000-186258400	Weak transcription	Hela-S3	cervix
21	chr1:186258000-186259600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr1:186258200-186259600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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