Variant report

Variant	rs10857517
Chromosome Location	chr10:50821834-50821835
allele	G/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	CTBP2	chr10:50819126-50822240	H1-hESC	embryonic stem cell:	n/a	n/a
3	SIN3A	chr10:50821675-50821890	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
CHAT	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10857518	0.82[CEU][hapmap]
rs11101184	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12774253	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1917809	0.83[AMR][1000 genomes]
rs2377878	0.88[EUR][1000 genomes]
rs2377879	0.83[AMR][1000 genomes]
rs3750752	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]
rs3810947	0.82[CEU][hapmap];1.00[TSI][hapmap]
rs4838536	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4838537	1.00[CEU][hapmap];0.94[CHB][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]

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	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

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50817800-50822200	Enhancers	Pancreas	Pancrea
2	chr10:50818400-50822400	Bivalent Enhancer	Fetal Brain Male	brain
3	chr10:50819400-50823000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
4	chr10:50819600-50822200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
5	chr10:50820200-50822000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr10:50820200-50822400	Weak transcription	Right Atrium	heart
7	chr10:50820800-50822000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr10:50821000-50822200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr10:50821000-50822400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr10:50821200-50822200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
11	chr10:50821200-50822200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
12	chr10:50821200-50822200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
13	chr10:50821200-50822800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
14	chr10:50821400-50822000	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
15	chr10:50821400-50822200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr10:50821400-50822800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
17	chr10:50821400-50822800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr10:50821600-50822000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
19	chr10:50821600-50822000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
20	chr10:50821600-50822600	Bivalent/Poised TSS	Fetal Brain Female	brain
21	chr10:50821600-50822800	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr10:50821600-50824000	Bivalent/Poised TSS	Placenta	Placenta
23	chr10:50821800-50822000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
24	chr10:50821800-50822000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr10:50821800-50822000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
26	chr10:50821800-50822000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr10:50821800-50822200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr10:50821800-50822800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
29	chr10:50821800-50823000	Bivalent Enhancer	Fetal Stomach	stomach

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