Variant report

Variant	rs719894
Chromosome Location	chr10:116470611-116470612
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	chr10:116469822..116472730-chr10:116527178..116529089,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1005968	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1109267	0.80[GIH][hapmap]
rs11196828	0.80[GIH][hapmap]
rs11196843	0.82[GIH][hapmap]
rs11196860	0.80[EUR][1000 genomes]
rs11196879	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11593135	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs11597188	0.82[CEU][hapmap];1.00[GIH][hapmap];0.91[TSI][hapmap];0.80[EUR][1000 genomes]
rs11598354	0.92[ASN][1000 genomes]
rs12570718	0.87[GIH][hapmap]
rs12761207	0.92[ASN][1000 genomes]
rs12761991	0.92[ASN][1000 genomes]
rs12763449	0.88[ASN][1000 genomes]
rs12763784	0.88[ASN][1000 genomes]
rs12774401	0.92[ASN][1000 genomes]
rs12783562	0.92[ASN][1000 genomes]
rs17720374	0.92[ASN][1000 genomes]
rs17793192	0.82[CEU][hapmap]
rs17794002	1.00[CHB][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs34202625	0.88[ASN][1000 genomes]
rs34210195	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34751270	0.84[ASN][1000 genomes]
rs35221652	0.92[ASN][1000 genomes]
rs35736355	0.92[ASN][1000 genomes]
rs35927479	0.92[ASN][1000 genomes]
rs36021781	0.92[ASN][1000 genomes]
rs4568917	0.87[GIH][hapmap]
rs4752099	0.82[CEU][hapmap];1.00[GIH][hapmap];0.91[TSI][hapmap];0.80[EUR][1000 genomes]
rs55633935	0.88[ASN][1000 genomes]
rs7080890	0.88[ASN][1000 genomes]
rs7092145	0.84[ASN][1000 genomes]
rs7902647	0.88[ASN][1000 genomes]
rs7919367	0.88[ASN][1000 genomes]
rs7922771	0.88[ASN][1000 genomes]
rs808325	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv1042170	chr10:116455043-116504871	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1046888	chr10:116455043-116505640	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv1038822	chr10:116455647-116497204	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs719894	ABLIM1	cis	parietal	SCAN
rs719894	TRUB1	cis	cerebellum	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116465000-116471200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr10:116465200-116472600	Weak transcription	Brain Hippocampus Middle	brain
3	chr10:116465400-116472200	Weak transcription	Brain Anterior Caudate	brain
4	chr10:116466400-116473600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr10:116466800-116473400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr10:116468000-116471200	Weak transcription	Right Atrium	heart
7	chr10:116468400-116471200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr10:116468400-116474200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr10:116468400-116474200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr10:116468800-116471200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr10:116468800-116471200	Weak transcription	Right Ventricle	heart
12	chr10:116468800-116471200	Weak transcription	Stomach Mucosa	stomach
13	chr10:116468800-116472400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr10:116468800-116472600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr10:116468800-116472600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr10:116468800-116472600	Weak transcription	Adipose Nuclei	Adipose
17	chr10:116468800-116473000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr10:116468800-116473800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr10:116469000-116472600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr10:116469000-116472600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr10:116469000-116472600	Weak transcription	Brain Substantia Nigra	brain
22	chr10:116469000-116472800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr10:116469000-116474000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr10:116469200-116471200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr10:116469200-116471400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr10:116469200-116472600	Weak transcription	HUVEC	blood vessel
27	chr10:116469200-116473000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr10:116469200-116473200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr10:116469200-116473200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr10:116469200-116473400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr10:116469200-116474000	Weak transcription	NHEK	skin
32	chr10:116469400-116473200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr10:116469800-116472800	Weak transcription	NH-A	brain
34	chr10:116470000-116473000	Weak transcription	NHDF-Ad	bronchial
35	chr10:116470000-116473400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr10:116470000-116473600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr10:116470200-116472800	Weak transcription	A549	lung
38	chr10:116470200-116473800	Weak transcription	HMEC	breast
39	chr10:116470400-116472800	Enhancers	Fetal Heart	heart
40	chr10:116470400-116473400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr10:116470400-116474000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr10:116470600-116471000	Weak transcription	Left Ventricle	heart
43	chr10:116470600-116471200	Weak transcription	Hela-S3	cervix

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