Variant report

Variant	rs11776316
Chromosome Location	chr8:102553903-102553904
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:102540601..102548196-chr8:102552198..102557907,8	MCF-7	breast:
2	chr8:102538367..102540633-chr8:102553221..102554974,2	MCF-7	breast:
3	chr8:102552353..102555344-chr8:102561709..102563737,2	MCF-7	breast:
4	chr8:102553740..102555578-chr8:102612921..102614753,2	MCF-7	breast:
5	chr8:102544008..102547197-chr8:102550488..102554621,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253991	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10505010	0.81[CEU][hapmap];0.83[CHB][hapmap];0.92[JPT][hapmap];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10955256	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10955257	0.88[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11776725	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11783704	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12114930	0.88[CEU][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13256544	0.83[CEU][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13263539	0.81[CEU][hapmap];0.84[CHB][hapmap];0.90[CHD][hapmap];0.92[GIH][hapmap];0.92[JPT][hapmap];0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13265291	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17397776	1.00[CEU][hapmap];0.84[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.98[TSI][hapmap];0.86[YRI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17397811	1.00[CEU][hapmap];0.84[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17476242	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1880634	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1880635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1981361	0.92[CEU][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2127034	0.81[CEU][hapmap];0.84[CHB][hapmap];0.92[JPT][hapmap];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2127035	0.81[CEU][hapmap];0.84[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap];0.92[JPT][hapmap];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs34216075	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60028447	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6984360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.83[MEX][hapmap];0.90[MKK][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs922466	0.92[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024652	chr8:101802121-102587124	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
2	nsv539699	chr8:101802121-102587124	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11776316	FBXO43	cis	cerebellum	SCAN
rs11776316	DCAF13	cis	parietal	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102527200-102555400	Weak transcription	Fetal Intestine Small	intestine
2	chr8:102527200-102556800	Weak transcription	Fetal Intestine Large	intestine
3	chr8:102550200-102554000	Enhancers	H9 Cell Line	embryonic stem cell
4	chr8:102550600-102555400	Weak transcription	Gastric	stomach
5	chr8:102550600-102557000	Weak transcription	Small Intestine	intestine
6	chr8:102550800-102558800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr8:102551200-102556200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr8:102551400-102555400	Weak transcription	Stomach Mucosa	stomach
9	chr8:102551400-102577400	Weak transcription	Fetal Stomach	stomach
10	chr8:102551600-102556800	Weak transcription	A549	lung
11	chr8:102551600-102557000	Weak transcription	HUVEC	blood vessel
12	chr8:102551800-102555400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:102551800-102555400	Weak transcription	Placenta	Placenta
14	chr8:102551800-102555400	Weak transcription	Pancreas	Pancrea
15	chr8:102552200-102555000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr8:102552200-102555400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:102552200-102555600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr8:102552200-102557000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr8:102552200-102558600	Weak transcription	Lung	lung
20	chr8:102552200-102564200	Weak transcription	Esophagus	oesophagus
21	chr8:102552200-102620600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:102552800-102555000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr8:102552800-102556400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr8:102553000-102555000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:102553000-102555600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr8:102553000-102555600	Weak transcription	HMEC	breast
27	chr8:102553000-102563000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr8:102553000-102573600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr8:102553200-102555000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:102553400-102554800	Weak transcription	NHEK	skin
31	chr8:102553600-102554200	Enhancers	H1 Cell Line	embryonic stem cell
32	chr8:102553600-102554200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr8:102553600-102554200	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr8:102553600-102554200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr8:102553600-102554400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:102553800-102554200	Enhancers	HUES6 Cell Line	embryonic stem cell

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