Variant report

Variant	rs6980763
Chromosome Location	chr8:125344856-125344857
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99056796..99059426-chr8:125344320..125347109,2	MCF-7	breast:
2	chr8:125342566..125344974-chr8:125348992..125350712,2	K562	blood:
3	chr8:125343485..125345851-chr8:125355810..125358693,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156482	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10089507	0.96[CEU][hapmap]
rs10092974	0.96[CEU][hapmap]
rs10102946	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10107757	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10111526	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs10217100	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11786409	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11994409	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11998018	1.00[CEU][hapmap]
rs13250065	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13264575	0.81[EUR][1000 genomes]
rs4076119	0.96[CEU][hapmap]
rs4131904	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4351403	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4464954	1.00[CEU][hapmap];0.81[ASN][1000 genomes]
rs4592013	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4870894	0.88[CEU][hapmap]
rs62530025	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6986235	0.96[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7004196	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7004771	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9656954	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6980763	LOC286052	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125312600-125346000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr8:125332000-125352800	Weak transcription	Fetal Lung	lung
3	chr8:125332400-125351000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr8:125332600-125348000	Weak transcription	Primary B cells from cord blood	blood
5	chr8:125332800-125346000	Weak transcription	Hela-S3	cervix
6	chr8:125333800-125345800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr8:125334000-125345800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:125334000-125345800	Weak transcription	HMEC	breast
9	chr8:125334200-125364000	Weak transcription	HUVEC	blood vessel
10	chr8:125336800-125347200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:125338000-125345600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr8:125338000-125347400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr8:125338400-125346000	Weak transcription	A549	lung
14	chr8:125339200-125347000	Weak transcription	Primary T cells from cord blood	blood
15	chr8:125340000-125346000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr8:125343400-125345600	Weak transcription	Fetal Heart	heart
17	chr8:125344600-125347800	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr8:125344800-125346000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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