Variant report

Variant	rs11783890
Chromosome Location	chr8:11056388-11056389
allele	C/T
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	chr8:11056372-11056419	H1-hESC	embryonic stem cell:	n/a	n/a
2	RAD21	chr8:11055983-11059769	SK-N-SH	brain:	n/a	chr8:11059259-11059271 chr8:11057745-11057758 chr8:11057624-11057637
3	STAT3	chr8:11056131-11056404	MCF10A-Er-Src	breast:	n/a	chr8:11056244-11056252
4	POLR2A	chr8:11056002-11059542	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT3	chr8:11056335-11056420	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11053117..11055085-chr8:11056263..11058043,2	K562	blood:
2	chr8:11042275..11044106-chr8:11054861..11057806,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270076	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10095003	1.00[ASN][1000 genomes]
rs10100660	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10101329	1.00[ASN][1000 genomes]
rs10110684	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10503417	1.00[ASN][1000 genomes]
rs11775489	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776603	1.00[ASN][1000 genomes]
rs11777355	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11777887	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11777918	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11783045	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11785237	1.00[ASN][1000 genomes]
rs11989369	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13248014	1.00[ASN][1000 genomes]
rs13249916	1.00[ASN][1000 genomes]
rs13256743	1.00[ASN][1000 genomes]
rs13265553	1.00[ASN][1000 genomes]
rs13266785	1.00[ASN][1000 genomes]
rs13276708	1.00[ASN][1000 genomes]
rs17725480	1.00[ASN][1000 genomes]
rs17725534	1.00[ASN][1000 genomes]
rs17726209	1.00[ASN][1000 genomes]
rs17782536	1.00[ASN][1000 genomes]
rs17782554	1.00[ASN][1000 genomes]
rs1987190	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409719	1.00[ASN][1000 genomes]
rs2409720	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409725	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409726	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409729	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409730	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3021495	1.00[ASN][1000 genomes]
rs3021497	1.00[ASN][1000 genomes]
rs3021498	1.00[ASN][1000 genomes]
rs3021501	1.00[ASN][1000 genomes]
rs34309263	1.00[ASN][1000 genomes]
rs34367737	1.00[ASN][1000 genomes]
rs35211404	1.00[ASN][1000 genomes]
rs4291231	1.00[ASN][1000 genomes]
rs4412337	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4451268	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4642600	1.00[ASN][1000 genomes]
rs4840548	1.00[ASN][1000 genomes]
rs4841497	1.00[ASN][1000 genomes]
rs4841499	1.00[ASN][1000 genomes]
rs67418928	1.00[ASN][1000 genomes]
rs67559300	1.00[ASN][1000 genomes]
rs71518512	1.00[ASN][1000 genomes]
rs73198943	1.00[ASN][1000 genomes]
rs7844536	0.81[AMR][1000 genomes]
rs9329238	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv1815171	chr8:10940039-11128712	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv831233	chr8:11046854-11234384	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11783890	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11028200-11056600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr8:11029600-11056800	Weak transcription	Fetal Intestine Small	intestine
3	chr8:11034600-11057000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:11034600-11057000	Weak transcription	Esophagus	oesophagus
5	chr8:11042800-11056600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:11045200-11057000	Weak transcription	Fetal Stomach	stomach
7	chr8:11046400-11056600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:11046600-11056600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:11049000-11056800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr8:11050400-11057000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr8:11050600-11056400	Weak transcription	Small Intestine	intestine
12	chr8:11052400-11057000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr8:11053600-11057000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr8:11053800-11056400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr8:11054200-11056400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:11054200-11057000	Enhancers	Primary B cells from peripheral blood	blood
17	chr8:11054200-11057200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr8:11054400-11057000	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr8:11054800-11057000	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr8:11054800-11059600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:11055000-11056400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr8:11055000-11056800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr8:11055000-11057800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:11055200-11056400	Weak transcription	Fetal Kidney	kidney
25	chr8:11055200-11057000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:11055200-11057000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:11055400-11056600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr8:11055400-11056600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr8:11055400-11056600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr8:11055400-11056800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:11055400-11057600	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr8:11055400-11059400	Active TSS	GM12878-XiMat	blood
33	chr8:11055600-11056400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:11055600-11059400	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr8:11055800-11056600	Weak transcription	Fetal Brain Female	brain
36	chr8:11055800-11057000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:11055800-11057400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr8:11055800-11057800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr8:11055800-11059400	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr8:11055800-11059600	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr8:11056000-11056400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr8:11056000-11056400	Flanking Active TSS	HSMMtube	muscle
43	chr8:11056000-11056600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr8:11056000-11056800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr8:11056000-11057000	Bivalent Enhancer	Fetal Brain Male	brain
46	chr8:11056000-11057400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr8:11056000-11057800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr8:11056000-11059600	Active TSS	Brain Anterior Caudate	brain
49	chr8:11056000-11059800	Active TSS	H1 Cell Line	embryonic stem cell
50	chr8:11056200-11056400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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