Variant report

Variant	rs17793192
Chromosome Location	chr10:116448806-116448807
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	BRCA1	chr10:116448592-116448874	Hela-S3	cervix:	n/a	n/a
2	FOS	chr10:116448538-116448894	MCF10A-Er-Src	breast:	n/a	chr10:116448751-116448759
3	RFX5	chr10:116448558-116448836	Hela-S3	cervix:	n/a	n/a
4	FOS	chr10:116448624-116448894	MCF10A-Er-Src	breast:	n/a	chr10:116448751-116448759
5	CEBPB	chr10:116448612-116448914	Hela-S3	cervix:	n/a	n/a
6	FOS	chr10:116448578-116448865	MCF10A-Er-Src	breast:	n/a	chr10:116448751-116448759
7	RAD21	chr10:116448581-116448893	Hela-S3	cervix:	n/a	n/a
8	STAT3	chr10:116448553-116448828	MCF10A-Er-Src	breast:	n/a	chr10:116448670-116448681
9	STAT3	chr10:116448538-116448886	MCF10A-Er-Src	breast:	n/a	chr10:116448670-116448681

Variant related genes	Relation type
ABLIM1	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1005968	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11196843	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs11196850	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs11196879	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11593135	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11597188	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs34210195	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4752099	1.00[CHB][hapmap];1.00[JPT][hapmap]

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	nsv1037308	chr10:116141946-116519765	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv540780	chr10:116141946-116519765	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv949138	chr10:116311531-116874477	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1038050	chr10:116315109-116895719	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv533027	chr10:116344641-116856352	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	esv3435429	chr10:116394152-117006347	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv948193	chr10:116448714-116451141	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116441800-116450800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr10:116444400-116452800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:116444400-116457200	Weak transcription	Esophagus	oesophagus
4	chr10:116445400-116450800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr10:116445600-116450800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr10:116445600-116450800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr10:116445600-116450800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr10:116445600-116450800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr10:116445600-116450800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr10:116445600-116450800	Weak transcription	Brain Hippocampus Middle	brain
11	chr10:116445600-116450800	Weak transcription	HSMMtube	muscle
12	chr10:116445600-116451000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr10:116445600-116451000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr10:116445600-116452800	Weak transcription	Right Atrium	heart
15	chr10:116445600-116454000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr10:116445600-116455800	Weak transcription	Right Ventricle	heart
17	chr10:116445800-116450800	Weak transcription	HMEC	breast
18	chr10:116445800-116450800	Weak transcription	NHDF-Ad	bronchial
19	chr10:116445800-116451000	Weak transcription	NHLF	lung
20	chr10:116445800-116454400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr10:116446000-116450800	Weak transcription	HSMM	muscle
22	chr10:116446000-116450800	Weak transcription	NH-A	brain
23	chr10:116446000-116451000	Weak transcription	HUVEC	blood vessel
24	chr10:116446000-116451000	Weak transcription	NHEK	skin
25	chr10:116446000-116459200	Weak transcription	Fetal Intestine Small	intestine
26	chr10:116446200-116450800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr10:116446200-116451400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr10:116446200-116456600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr10:116446400-116451000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr10:116447200-116451000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr10:116447200-116451000	Weak transcription	A549	lung
32	chr10:116447200-116451200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr10:116447400-116450600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr10:116447400-116450800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr10:116447400-116450800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr10:116447400-116451400	Weak transcription	Fetal Lung	lung
37	chr10:116447400-116452400	Weak transcription	Left Ventricle	heart
38	chr10:116447600-116450400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr10:116447600-116451000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr10:116447600-116451200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr10:116448000-116450800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr10:116448000-116451000	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr10:116448000-116451200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr10:116448000-116455600	Weak transcription	Adipose Nuclei	Adipose
45	chr10:116448200-116449200	Enhancers	Hela-S3	cervix
46	chr10:116448200-116449800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr10:116448400-116451200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr10:116448400-116455800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr10:116448600-116449000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr10:116448800-116449000	Enhancers	Ovary	ovary

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