Variant report

Variant	rs12190795
Chromosome Location	chr6:147211933-147211934
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	chr6:147204253..147217184-chr6:147521370..147537831,35	K562	blood:
2	chr6:147210436..147217668-chr6:147521992..147527584,13	K562	blood:

Variant related genes	Relation type
ENSG00000164506	Chromatin interaction
ENSG00000233452	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10457058	0.93[CEU][hapmap];0.82[CHB][hapmap];0.91[GIH][hapmap];0.86[TSI][hapmap]
rs10457059	0.92[CEU][hapmap];0.82[CHB][hapmap]
rs12190780	0.92[CEU][hapmap];0.82[CHB][hapmap]
rs12191031	0.92[CEU][hapmap];0.82[CHB][hapmap]
rs12192840	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12194244	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12194773	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12205166	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12208399	0.93[CEU][hapmap];0.90[GIH][hapmap];0.82[TSI][hapmap]
rs12208632	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12211372	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12211724	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12211839	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12215283	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs259387	0.82[CHB][hapmap]
rs508146	0.93[CEU][hapmap];1.00[JPT][hapmap]
rs62434807	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62434828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62434830	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62434833	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs878616	1.00[CEU][hapmap];0.82[CHB][hapmap];0.83[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs878617	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.83[YRI][hapmap]
rs9497651	0.93[CEU][hapmap];0.82[CHB][hapmap];0.91[GIH][hapmap];0.86[TSI][hapmap]
rs9497653	0.92[CEU][hapmap];0.82[CHB][hapmap]
rs9497654	0.93[CEU][hapmap];0.82[CHB][hapmap];0.91[GIH][hapmap];0.86[TSI][hapmap]

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	nsv830838	chr6:147090745-147274669	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv442012	chr6:147210681-147219817	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12190795	UST	cis	parietal	SCAN
rs12190795	HIVEP2	cis	parietal	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147202200-147212400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr6:147203200-147212000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:147207000-147213000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:147207400-147212400	Weak transcription	NHDF-Ad	bronchial
5	chr6:147207600-147212000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr6:147208800-147212400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:147209200-147212400	Weak transcription	NHLF	lung
8	chr6:147209400-147212400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:147209400-147212600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr6:147209400-147215600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr6:147209600-147212000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr6:147209600-147212400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr6:147209600-147213000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:147210000-147215200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:147210600-147212000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:147210800-147213000	Enhancers	K562	blood
17	chr6:147211800-147214000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr6:147211800-147214400	Enhancers	HSMM	muscle
19	chr6:147211800-147214600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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