Variant report

Variant	rs3750752
Chromosome Location	chr10:50818595-50818596
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	SUZ12	chr10:50818492-50822122	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZBTB7A	chr10:50817083-50818611	ECC-1	luminal epithelium:	n/a	chr10:50818006-50818015 chr10:50818032-50818041
3	ZBTB7A	chr10:50817093-50818703	ECC-1	luminal epithelium:	n/a	chr10:50818006-50818015 chr10:50818032-50818041
4	E2F6	chr10:50818546-50820543	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr10:50818300-50818978	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50817979..50819560-chr10:50821869..50824788,2	K562	blood:
2	chr10:50817275..50819669-chr10:50821869..50826020,4	K562	blood:

Variant related genes	Relation type
CHAT	TF binding region
ENSG00000070748	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10857517	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10857518	0.82[CEU][hapmap]
rs11101184	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12774253	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1917809	0.82[AMR][1000 genomes]
rs1949883	0.81[CHD][hapmap]
rs2377879	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3810947	0.82[CEU][hapmap];1.00[TSI][hapmap]
rs4838536	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4838537	1.00[CEU][hapmap];0.89[CHB][hapmap];0.82[CHD][hapmap];0.85[GIH][hapmap];0.93[JPT][hapmap];0.88[LWK][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap];0.88[YRI][hapmap];0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	esv3346476	chr10:50610853-50987802	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	esv3385048	chr10:50610942-50988537	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv1037405	chr10:50800817-50940545	Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv895378	chr10:50801342-50955649	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv550819	chr10:50815512-50835264	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv3410105	chr10:50816971-50819819	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3518245	chr10:50817146-50821244	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv3518246	chr10:50817146-50821244	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50816600-50820000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
2	chr10:50816600-50820000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr10:50816800-50819400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr10:50816800-50819800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr10:50817000-50819000	Bivalent Enhancer	Spleen	Spleen
6	chr10:50817000-50819400	Enhancers	Gastric	stomach
7	chr10:50817200-50818800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr10:50817200-50820000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr10:50817400-50818600	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr10:50817400-50818800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
11	chr10:50817400-50819000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr10:50817400-50819000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr10:50817400-50819600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
14	chr10:50817600-50818600	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr10:50817600-50818600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr10:50817600-50818800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr10:50817600-50819400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr10:50817800-50818600	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr10:50817800-50818600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
20	chr10:50817800-50818800	Bivalent/Poised TSS	HSMM	muscle
21	chr10:50817800-50819200	Enhancers	Liver	Liver
22	chr10:50817800-50820400	Bivalent Enhancer	Lung	lung
23	chr10:50817800-50822200	Enhancers	Pancreas	Pancrea
24	chr10:50818000-50818600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr10:50818000-50818600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr10:50818000-50818600	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr10:50818000-50818600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr10:50818000-50818600	Active TSS	Right Atrium	heart
29	chr10:50818000-50819000	Bivalent/Poised TSS	Fetal Brain Female	brain
30	chr10:50818000-50820000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr10:50818000-50820400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr10:50818200-50818600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr10:50818200-50818600	Bivalent/Poised TSS	Psoas Muscle	Psoas
34	chr10:50818200-50819600	Flanking Bivalent TSS/Enh	Right Ventricle	heart
35	chr10:50818200-50819800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr10:50818400-50818600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr10:50818400-50818600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr10:50818400-50818600	Bivalent Enhancer	Brain Hippocampus Middle	brain
39	chr10:50818400-50818600	Bivalent Enhancer	Colonic Mucosa	Colon
40	chr10:50818400-50818600	Bivalent Enhancer	Fetal Muscle Leg	muscle
41	chr10:50818400-50818800	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr10:50818400-50818800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
43	chr10:50818400-50818800	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr10:50818400-50818800	Flanking Bivalent TSS/Enh	Ovary	ovary
45	chr10:50818400-50818800	Flanking Bivalent TSS/Enh	Placenta Amnion	Placenta Amnion
46	chr10:50818400-50818800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
47	chr10:50818400-50818800	Active TSS	HepG2	liver
48	chr10:50818400-50818800	Flanking Bivalent TSS/Enh	HMEC	breast
49	chr10:50818400-50819000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr10:50818400-50819000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin

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