Variant report

Variant	rs73304711
Chromosome Location	chr10:50344837-50344838
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	ZNF143	chr10:50344641-50344893	K562	blood:	n/a	n/a
2	KAP1	chr10:50343583-50344907	U2OS	brain:	n/a	n/a
3	KAP1	chr10:50343835-50344917	HEK293	kidney:	n/a	n/a
4	KAP1	chr10:50344460-50345078	K562	blood:	n/a	n/a
5	SETDB1	chr10:50343862-50345048	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50343053..50345152-chr10:50372726..50375346,2	K562	blood:

Variant related genes	Relation type
FAM170B	TF binding region
FAM170B-AS1	TF binding region
ENSG00000204161	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10219080	0.91[AMR][1000 genomes]
rs11100991	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12243870	1.00[AMR][1000 genomes]
rs12258104	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12258230	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12268209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2246238	0.82[AMR][1000 genomes]
rs4442460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4483511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56737365	0.91[AMR][1000 genomes]
rs61167870	0.84[AFR][1000 genomes]
rs7067828	0.91[AMR][1000 genomes]
rs7067848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7068517	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7068519	0.85[AFR][1000 genomes]
rs7077339	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7083685	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7095186	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302715	0.91[AMR][1000 genomes]
rs73302716	0.91[AMR][1000 genomes]
rs73302759	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73304705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9804303	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9804328	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50340400-50347600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:50342200-50346200	Weak transcription	Left Ventricle	heart
3	chr10:50342200-50347000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr10:50342200-50349800	Enhancers	Fetal Lung	lung
5	chr10:50342400-50345400	Enhancers	Primary B cells from peripheral blood	blood
6	chr10:50343000-50357800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr10:50343800-50345800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr10:50343800-50346800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr10:50344000-50346400	Weak transcription	Ovary	ovary
10	chr10:50344000-50347600	Weak transcription	Right Ventricle	heart
11	chr10:50344200-50345800	Weak transcription	Fetal Stomach	stomach
12	chr10:50344200-50346200	Weak transcription	NH-A	brain
13	chr10:50344200-50346200	Weak transcription	Osteobl	bone
14	chr10:50344200-50346600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr10:50344200-50346800	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr10:50344200-50346800	Weak transcription	Right Atrium	heart
17	chr10:50344200-50347600	Weak transcription	Esophagus	oesophagus
18	chr10:50344200-50352200	Weak transcription	Fetal Thymus	thymus
19	chr10:50344400-50346200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr10:50344400-50346200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr10:50344400-50346400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr10:50344400-50347400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr10:50344600-50345800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr10:50344800-50346200	Weak transcription	Adipose Nuclei	Adipose

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