Variant report

Variant	rs11573916
Chromosome Location	chr8:119942645-119942646
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:119941665..119944846-chr8:119962933..119965676,3	MCF-7	breast:
2	chr8:119942588..119945427-chr8:119950243..119953454,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164761	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11573823	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11573846	1.00[ASN][1000 genomes]
rs11573847	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11573878	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11573884	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11573888	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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11573926	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11573927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11573935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11573938	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11573953	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13279492	0.84[EUR][1000 genomes]
rs1385502	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1564857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1564858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2228568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35482628	0.84[EUR][1000 genomes]
rs35767548	1.00[ASN][1000 genomes]
rs4446765	0.84[EUR][1000 genomes]
rs4532619	0.84[EUR][1000 genomes]
rs6469783	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469784	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6995365	1.00[ASN][1000 genomes]
rs7844539	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[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	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

No data

Chromatin state (count:36 , 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	chr8:119934600-119944000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:119934800-119947400	Weak transcription	Adipose Nuclei	Adipose
5	chr8:119934800-119948000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:119935000-119956600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr8:119935200-119943600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr8:119935600-119943200	Strong transcription	Osteobl	bone
9	chr8:119935600-119948000	Weak transcription	Left Ventricle	heart
10	chr8:119936200-119948000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:119936600-119946800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:119937000-119943600	Strong transcription	NHDF-Ad	bronchial
13	chr8:119937000-119945200	Weak transcription	Lung	lung
14	chr8:119937000-119948000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:119938800-119943200	Weak transcription	Liver	Liver
16	chr8:119939400-119958400	Weak transcription	Fetal Lung	lung
17	chr8:119940200-119943400	Weak transcription	Fetal Kidney	kidney
18	chr8:119940600-119945000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:119940600-119945200	Weak transcription	Right Ventricle	heart
20	chr8:119941000-119944800	Weak transcription	HSMM	muscle
21	chr8:119941200-119944800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:119941200-119953400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:119941400-119943800	Weak transcription	HSMMtube	muscle
24	chr8:119941400-119944400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:119941600-119942800	Weak transcription	Fetal Intestine Large	intestine
26	chr8:119941600-119945000	Weak transcription	Aorta	Aorta
27	chr8:119941600-119947200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr8:119942000-119943000	Weak transcription	NHLF	lung
29	chr8:119942000-119945400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr8:119942000-119947400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr8:119942400-119942800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:119942400-119943600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:119942400-119946000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr8:119942400-119947200	Weak transcription	Hela-S3	cervix
35	chr8:119942600-119943000	Strong transcription	Fetal Intestine Small	intestine
36	chr8:119942600-119945000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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