Variant report

Variant	rs62494515
Chromosome Location	chr8:19607411-19607412
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19603759..19605337-chr8:19607141..19608803,2	MCF-7	breast:
2	chr5:149828827..149829688-chr8:19606973..19607473,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000164587	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12375275	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13279183	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17091266	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28660470	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28717065	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34347433	0.80[ASN][1000 genomes]
rs34845575	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34909571	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34995597	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3802327	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6586862	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs66579739	0.90[ASN][1000 genomes]
rs6999967	0.81[EUR][1000 genomes]
rs6999968	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7814601	0.80[ASN][1000 genomes]
rs7824222	0.88[ASN][1000 genomes]
rs7832074	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7845430	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9693642	0.81[EUR][1000 genomes]
rs9694733	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv948861	chr8:19199688-19609029	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1021575	chr8:19430653-19623452	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1021731	chr8:19515149-19643313	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19588600-19613400	Weak transcription	Pancreas	Pancrea
2	chr8:19603800-19610800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr8:19603800-19613800	Weak transcription	Ovary	ovary
4	chr8:19604000-19607800	Weak transcription	Left Ventricle	heart
5	chr8:19604600-19610000	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr8:19604600-19614000	Weak transcription	Aorta	Aorta
7	chr8:19604800-19614000	Weak transcription	Spleen	Spleen
8	chr8:19605000-19612000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:19605200-19608600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:19605400-19608600	Weak transcription	Primary B cells from cord blood	blood
11	chr8:19605400-19608600	Weak transcription	Hela-S3	cervix
12	chr8:19605400-19609200	Weak transcription	Placenta	Placenta
13	chr8:19605400-19612400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr8:19605600-19610400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr8:19606400-19609600	Strong transcription	A549	lung
16	chr8:19606800-19609000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr8:19607000-19607800	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr8:19607000-19608800	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr8:19607000-19610000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr8:19607400-19607600	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr8:19607400-19610000	Strong transcription	Primary T cells from cord blood	blood
22	chr8:19607400-19612400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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