Variant report

Variant	rs60119752
Chromosome Location	chr10:23480570-23480571
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	CTBP2	chr10:23479936-23482481	H1-hESC	embryonic stem cell:	n/a	n/a
2	SUZ12	chr10:23479864-23482543	NT2-D1	testis:	n/a	n/a
3	SUZ12	chr10:23479777-23482696	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
PTF1A	TF binding region

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs11013241	1.00[EUR][1000 genomes]
rs11013243	1.00[EUR][1000 genomes]
rs11013286	1.00[EUR][1000 genomes]
rs11013313	1.00[EUR][1000 genomes]
rs11013314	1.00[EUR][1000 genomes]
rs11013345	1.00[EUR][1000 genomes]
rs11013346	1.00[EUR][1000 genomes]
rs11013411	1.00[EUR][1000 genomes]
rs11013414	1.00[EUR][1000 genomes]
rs11013431	1.00[EUR][1000 genomes]
rs11815995	1.00[EUR][1000 genomes]
rs12240604	1.00[EUR][1000 genomes]
rs12240815	1.00[EUR][1000 genomes]
rs12242101	1.00[EUR][1000 genomes]
rs12244149	1.00[EUR][1000 genomes]
rs12244692	1.00[EUR][1000 genomes]
rs12246196	1.00[EUR][1000 genomes]
rs12246812	1.00[EUR][1000 genomes]
rs12248042	1.00[EUR][1000 genomes]
rs12251091	1.00[EUR][1000 genomes]
rs12252677	1.00[EUR][1000 genomes]
rs12253547	1.00[EUR][1000 genomes]
rs12255738	1.00[EUR][1000 genomes]
rs12257110	1.00[EUR][1000 genomes]
rs12259381	1.00[EUR][1000 genomes]
rs12263261	1.00[EUR][1000 genomes]
rs12264254	1.00[EUR][1000 genomes]
rs12264628	1.00[EUR][1000 genomes]
rs12265525	1.00[EUR][1000 genomes]
rs12267589	1.00[EUR][1000 genomes]
rs12269034	1.00[EUR][1000 genomes]
rs12269406	1.00[EUR][1000 genomes]
rs12414753	1.00[EUR][1000 genomes]
rs12415049	1.00[EUR][1000 genomes]
rs1555803	1.00[EUR][1000 genomes]
rs1555804	1.00[EUR][1000 genomes]
rs16923022	1.00[EUR][1000 genomes]
rs16923107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28787441	1.00[EUR][1000 genomes]
rs35010365	1.00[EUR][1000 genomes]
rs4130996	1.00[EUR][1000 genomes]
rs57028408	1.00[EUR][1000 genomes]
rs58872155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59059236	1.00[EUR][1000 genomes]
rs60278719	1.00[EUR][1000 genomes]
rs61136507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61416838	1.00[EUR][1000 genomes]
rs7067788	1.00[EUR][1000 genomes]
rs7358042	1.00[EUR][1000 genomes]
rs74121763	1.00[EUR][1000 genomes]
rs74121767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74121787	1.00[EUR][1000 genomes]
rs74124511	1.00[EUR][1000 genomes]
rs74124519	1.00[EUR][1000 genomes]
rs74124521	1.00[EUR][1000 genomes]
rs74124522	1.00[EUR][1000 genomes]
rs74124523	1.00[EUR][1000 genomes]
rs74125106	1.00[EUR][1000 genomes]
rs7910382	1.00[EUR][1000 genomes]
rs7916862	1.00[EUR][1000 genomes]
rs9943348	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv825301	chr10:23440604-23505846	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv831810	chr10:23445647-23605270	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv825302	chr10:23457022-23497329	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2754706	chr10:23477062-23509344	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2756096	chr10:23477062-23509344	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv430137	chr10:23477062-23509344	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv3408507	chr10:23479971-23482819	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
8	esv3322961	chr10:23480571-23483119	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:23479200-23481600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr10:23479200-23483400	Active TSS	Pancreas	Pancrea
3	chr10:23479400-23480600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
4	chr10:23479600-23480800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
5	chr10:23479600-23481400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr10:23479800-23480800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr10:23479800-23482600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr10:23480000-23480600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr10:23480000-23481000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr10:23480000-23481600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
11	chr10:23480000-23481800	Bivalent Enhancer	Fetal Brain Male	brain
12	chr10:23480200-23480600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
13	chr10:23480200-23480800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
14	chr10:23480200-23481200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr10:23480200-23482400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr10:23480200-23482600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr10:23480200-23484400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
18	chr10:23480400-23480600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
19	chr10:23480400-23480600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr10:23480400-23480600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
21	chr10:23480400-23480600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
22	chr10:23480400-23480800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr10:23480400-23480800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr10:23480400-23480800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr10:23480400-23480800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr10:23480400-23480800	Bivalent Enhancer	Brain Germinal Matrix	brain
27	chr10:23480400-23480800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
28	chr10:23480400-23480800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
29	chr10:23480400-23480800	Bivalent Enhancer	Fetal Stomach	stomach
30	chr10:23480400-23481000	Bivalent Enhancer	Right Ventricle	heart
31	chr10:23480400-23481400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
32	chr10:23480400-23481400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr10:23480400-23481800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
34	chr10:23480400-23482400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
35	chr10:23480400-23482400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
36	chr10:23480400-23482600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived

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