Variant report

Variant	rs1564858
Chromosome Location	chr8:119945166-119945167
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:119945156-119945428	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:119942588..119945427-chr8:119950243..119953454,3	MCF-7	breast:

Variant related genes	Relation type
TNFRSF11B	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11573823	1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11573846	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11573847	1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11573878	1.00[CHB][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11573884	1.00[CHB][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11573888	1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11573898	1.00[ASN][1000 genomes]
rs11573909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11573916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11573926	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11573927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11573935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11573938	1.00[CEU][hapmap];0.97[GIH][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11573953	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13270766	1.00[CHB][hapmap];0.90[LWK][hapmap];1.00[YRI][hapmap]
rs13270860	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs13276474	1.00[CHB][hapmap]
rs13279492	0.83[EUR][1000 genomes]
rs13282510	1.00[CHB][hapmap]
rs1385502	1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1485289	0.85[YRI][hapmap]
rs1564857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17179200	1.00[CHB][hapmap]
rs2073618	0.85[YRI][hapmap]
rs2228568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35482628	0.83[EUR][1000 genomes]
rs35767548	1.00[ASN][1000 genomes]
rs4446765	0.83[EUR][1000 genomes]
rs4460404	1.00[CHB][hapmap]
rs4532619	0.83[EUR][1000 genomes]
rs4537331	1.00[CHB][hapmap]
rs6469783	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469784	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6995365	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs7464496	0.85[YRI][hapmap]
rs7825904	0.92[GIH][hapmap]
rs7828837	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs7837001	1.00[CHB][hapmap]
rs7844539	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758169	chr8:119943309-120275750	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2759639	chr8:119943309-120275750	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119928800-119956600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr8:119929200-119947400	Weak transcription	NH-A	brain
3	chr8:119934800-119947400	Weak transcription	Adipose Nuclei	Adipose
4	chr8:119934800-119948000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:119935000-119956600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr8:119935600-119948000	Weak transcription	Left Ventricle	heart
7	chr8:119936200-119948000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:119936600-119946800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:119937000-119945200	Weak transcription	Lung	lung
10	chr8:119937000-119948000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:119939400-119958400	Weak transcription	Fetal Lung	lung
12	chr8:119940600-119945200	Weak transcription	Right Ventricle	heart
13	chr8:119941200-119953400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:119941600-119947200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr8:119942000-119945400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr8:119942000-119947400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr8:119942400-119946000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr8:119942400-119947200	Weak transcription	Hela-S3	cervix
19	chr8:119942800-119945600	Strong transcription	Fetal Intestine Large	intestine
20	chr8:119943200-119945200	Genic enhancers	Osteobl	bone
21	chr8:119943600-119945200	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr8:119943600-119945200	Genic enhancers	NHDF-Ad	bronchial
23	chr8:119944000-119945400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:119944400-119945400	Genic enhancers	NHLF	lung
25	chr8:119944400-119953200	Weak transcription	Fetal Intestine Small	intestine
26	chr8:119944600-119945600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:119944600-119947400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:119944600-119956200	Weak transcription	HSMMtube	muscle
29	chr8:119944800-119945400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:119944800-119945800	Strong transcription	HSMM	muscle
31	chr8:119944800-119947400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:119945000-119945200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:119945000-119945200	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:119945000-119945600	Genic enhancers	Aorta	Aorta

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