Variant report

Variant	rs951268
Chromosome Location	chr10:116447810-116447811
allele	A/G
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	TCF12	chr10:116446937-116447890	SK-N-SH	brain:	n/a	n/a
2	EP300	chr10:116447140-116447816	SK-N-SH_RA	brain:	n/a	n/a
3	TCF12	chr10:116446963-116447838	SK-N-SH	brain:	n/a	n/a
4	NFIC	chr10:116447173-116447831	SK-N-SH	brain:	n/a	n/a
5	EP300	chr10:116447188-116447831	SK-N-SH_RA	brain:	n/a	n/a
6	GATA3	chr10:116447060-116447897	SK-N-SH	brain:	n/a	chr10:116447564-116447585 chr10:116447645-116447655
7	EP300	chr10:116446713-116448474	SK-N-SH	brain:	n/a	n/a
8	GATA3	chr10:116446911-116447941	SK-N-SH	brain:	n/a	chr10:116447564-116447585 chr10:116447645-116447655

Variant related genes	Relation type
ABLIM1	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10885596	0.99[ASN][1000 genomes]
rs11196865	0.85[ASN][1000 genomes]
rs11196867	0.92[ASN][1000 genomes]
rs11196873	0.97[ASN][1000 genomes]
rs11196876	0.99[ASN][1000 genomes]
rs11196877	0.99[ASN][1000 genomes]
rs11196884	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

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	chr10:116444400-116448400	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr10:116444400-116448800	Weak transcription	Ovary	ovary
4	chr10:116444400-116452800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:116444400-116457200	Weak transcription	Esophagus	oesophagus
6	chr10:116444600-116448000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr10:116444600-116448400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr10:116445400-116448000	Enhancers	Adipose Nuclei	Adipose
9	chr10:116445400-116450800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr10:116445600-116448400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr10:116445600-116450800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr10:116445600-116450800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr10:116445600-116450800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr10:116445600-116450800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr10:116445600-116450800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr10:116445600-116450800	Weak transcription	Brain Hippocampus Middle	brain
17	chr10:116445600-116450800	Weak transcription	HSMMtube	muscle
18	chr10:116445600-116451000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr10:116445600-116451000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr10:116445600-116452800	Weak transcription	Right Atrium	heart
21	chr10:116445600-116454000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr10:116445600-116455800	Weak transcription	Right Ventricle	heart
23	chr10:116445800-116448200	Weak transcription	Hela-S3	cervix
24	chr10:116445800-116448800	Enhancers	Fetal Heart	heart
25	chr10:116445800-116450800	Weak transcription	HMEC	breast
26	chr10:116445800-116450800	Weak transcription	NHDF-Ad	bronchial
27	chr10:116445800-116451000	Weak transcription	NHLF	lung
28	chr10:116445800-116454400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr10:116446000-116450800	Weak transcription	HSMM	muscle
30	chr10:116446000-116450800	Weak transcription	NH-A	brain
31	chr10:116446000-116451000	Weak transcription	HUVEC	blood vessel
32	chr10:116446000-116451000	Weak transcription	NHEK	skin
33	chr10:116446000-116459200	Weak transcription	Fetal Intestine Small	intestine
34	chr10:116446200-116450800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr10:116446200-116451400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr10:116446200-116456600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr10:116446400-116451000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr10:116447000-116448000	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr10:116447200-116448000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr10:116447200-116448600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr10:116447200-116451000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr10:116447200-116451000	Weak transcription	A549	lung
43	chr10:116447200-116451200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr10:116447400-116450600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr10:116447400-116450800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr10:116447400-116450800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr10:116447400-116451400	Weak transcription	Fetal Lung	lung
48	chr10:116447400-116452400	Weak transcription	Left Ventricle	heart
49	chr10:116447600-116450400	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr10:116447600-116451000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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