Variant report

Variant	rs13250065
Chromosome Location	chr8:125358276-125358277
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125357308..125361661-chr8:125382633..125386691,6	MCF-7	breast:
2	chr8:125357705..125360687-chr8:125362557..125365211,4	K562	blood:
3	chr8:125353704..125355913-chr8:125356266..125359505,3	MCF-7	breast:
4	chr8:125343485..125345851-chr8:125355810..125358693,2	MCF-7	breast:
5	chr8:125357388..125359258-chr8:125359520..125361729,2	K562	blood:

Variant related genes	Relation type
ENSG00000164983	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10102946	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10107757	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10111526	0.83[EUR][1000 genomes]
rs10217100	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11786409	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11994409	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12682324	0.82[EUR][1000 genomes]
rs13264575	0.83[EUR][1000 genomes]
rs4131904	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4351403	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4592013	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62530025	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6980763	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6986235	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7004196	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7004771	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9656954	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv521356	chr8:125309055-125404763	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1034768	chr8:125323011-125481733	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv527751	chr8:125338216-125431030	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	esv3384288	chr8:125350820-125377284	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13250065	LOC286052	Cis_1M	lymphoblastoid	RTeQTL
rs13250065	RP11-383J24.6	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125334200-125364000	Weak transcription	HUVEC	blood vessel
2	chr8:125346400-125361000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr8:125346400-125368200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:125352000-125366400	Weak transcription	Primary T cells from cord blood	blood
5	chr8:125352600-125358400	Enhancers	Fetal Heart	heart
6	chr8:125353000-125376200	Weak transcription	HSMM	muscle
7	chr8:125353200-125364200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr8:125353200-125364800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr8:125354600-125361000	Weak transcription	A549	lung
10	chr8:125354600-125362200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr8:125354600-125365000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr8:125355200-125361000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:125355200-125361000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr8:125355400-125364000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr8:125355600-125360800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:125355800-125370400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr8:125356000-125362400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr8:125356400-125362800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr8:125356400-125363800	Weak transcription	Fetal Lung	lung
20	chr8:125356600-125358400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr8:125356800-125361000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr8:125357000-125363600	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr8:125357400-125358600	Enhancers	Left Ventricle	heart
24	chr8:125357600-125361000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr8:125357600-125361200	Weak transcription	Colon Smooth Muscle	Colon
26	chr8:125357600-125366600	Weak transcription	Right Ventricle	heart
27	chr8:125357800-125360600	Weak transcription	Primary B cells from peripheral blood	blood
28	chr8:125358200-125358400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr8:125358200-125358400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr8:125358200-125358400	Enhancers	Pancreas	Pancrea
31	chr8:125358200-125358600	Enhancers	Psoas Muscle	Psoas

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