Variant report

Variant	rs9495497
Chromosome Location	chr6:139811689-139811690
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:139811168..139812845-chr6:139833635..139836382,2	K562	blood:
2	chr6:139809853..139812298-chr6:139813287..139815941,2	MCF-7	breast:
3	chr6:139805921..139807747-chr6:139809317..139811941,2	K562	blood:
4	chr6:139695107..139696617-chr6:139811370..139813177,2	MCF-7	breast:
5	chr6:139697154..139699133-chr6:139810581..139812595,2	K562	blood:

Variant related genes	Relation type
ENSG00000164442	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs4895561	0.91[CHB][hapmap];0.89[CHD][hapmap];0.89[ASN][1000 genomes]
rs4895562	0.91[CHB][hapmap];0.89[CHD][hapmap];0.89[ASN][1000 genomes]
rs4895563	0.82[JPT][hapmap]
rs4896462	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9389688	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9399281	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][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	nsv869066	chr6:139777114-140639695	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9495497	HIVEP2	cis	parietal	SCAN
rs9495497	TXLNB	cis	cerebellum	SCAN
rs9495497	FUCA2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:139804000-139818200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:139810800-139812000	Enhancers	K562	blood
3	chr6:139811200-139811800	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr6:139811200-139811800	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr6:139811200-139812000	Enhancers	HepG2	liver
6	chr6:139811200-139812200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:139811200-139812200	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr6:139811200-139812400	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr6:139811400-139811800	Enhancers	Primary B cells from peripheral blood	blood
10	chr6:139811400-139811800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr6:139811400-139812000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr6:139811400-139812000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr6:139811400-139812000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr6:139811400-139812000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:139811400-139812400	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr6:139811600-139811800	Active TSS	Liver	Liver
17	chr6:139811600-139812000	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr6:139811600-139812000	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr6:139811600-139812000	Enhancers	Fetal Intestine Large	intestine
20	chr6:139811600-139812000	Enhancers	Fetal Kidney	kidney
21	chr6:139811600-139812000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr6:139811600-139812600	Enhancers	Primary neutrophils fromperipheralblood	blood

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