Variant report

Variant	rs35701829
Chromosome Location	chr20:23587063-23587064
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	CTCF	chr20:23586931-23587764	SK-N-SH	brain:	n/a	chr20:23587368-23587389 chr20:23587109-23587122 chr20:23587373-23587391 chr20:23587070-23587078
2	RAD21	chr20:23587014-23587683	HepG2	liver:	n/a	chr20:23587214-23587227 chr20:23587213-23587225 chr20:23587371-23587390
3	SMC3	chr20:23586994-23587661	SK-N-SH	brain:	n/a	n/a
4	RAD21	chr20:23587061-23587670	ECC-1	luminal epithelium:	n/a	chr20:23587214-23587227 chr20:23587213-23587225 chr20:23587371-23587390
5	RAD21	chr20:23586590-23587664	H1-hESC	embryonic stem cell:	n/a	chr20:23587214-23587227 chr20:23587213-23587225 chr20:23587371-23587390
6	RAD21	chr20:23587016-23587634	H1-hESC	embryonic stem cell:	n/a	chr20:23587214-23587227 chr20:23587213-23587225 chr20:23587371-23587390
7	TFAP2C	chr20:23587031-23587674	Hela-S3	cervix:	n/a	chr20:23587329-23587344
8	YY1	chr20:23587037-23587531	H1-hESC	embryonic stem cell:	n/a	n/a
9	RAD21	chr20:23587044-23587675	A549	lung:	n/a	chr20:23587214-23587227 chr20:23587213-23587225 chr20:23587371-23587390
10	CTCF	chr20:23586943-23588211	A549	lung:	n/a	chr20:23587368-23587389 chr20:23587109-23587122 chr20:23587373-23587391 chr20:23587070-23587078
11	RAD21	chr20:23587023-23587781	HCT-116	colon:	n/a	chr20:23587214-23587227 chr20:23587213-23587225 chr20:23587371-23587390
12	TFAP2A	chr20:23587020-23587634	Hela-S3	cervix:	n/a	chr20:23587331-23587346 chr20:23587084-23587098 chr20:23587332-23587343 chr20:23587084-23587098 chr20:23587114-23587126 chr20:23587332-23587343
13	RAD21	chr20:23586588-23587661	H1-hESC	embryonic stem cell:	n/a	chr20:23587214-23587227 chr20:23587213-23587225 chr20:23587371-23587390
14	RAD21	chr20:23586964-23587788	MCF-7	breast:	n/a	chr20:23587214-23587227 chr20:23587213-23587225 chr20:23587371-23587390

No.	Distal block	Cell Line	Cell type
1	chr20:23330189..23333651-chr20:23586751..23589419,5	MCF-7	breast:
2	chr20:23422547..23423488-chr20:23586916..23587742,4	K562	blood:
3	chr20:23330052..23330922-chr20:23586934..23587533,2	MCF-7	breast:
4	chr20:23422154..23423090-chr20:23586925..23587808,6	MCF-7	breast:
5	chr20:23426997..23427916-chr20:23586801..23588394,7	MCF-7	breast:
6	chr20:23420446..23421713-chr20:23586984..23587653,3	MCF-7	breast:

Variant related genes	Relation type
CST9	TF binding region
ENSG00000125823	Chromatin interaction
ENSG00000132661	Chromatin interaction
ENSG00000234832	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10485646	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2424563	0.80[ASN][1000 genomes]
rs2983639	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2983641	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3004142	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3004148	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6036464	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6048927	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6106689	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6106691	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62207039	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62208864	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62208869	0.82[EUR][1000 genomes]
rs7265919	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73312653	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8120131	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491876	chr20:23436633-24031374	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23583400-23594000	Weak transcription	Right Atrium	heart
2	chr20:23583600-23587600	Weak transcription	Spleen	Spleen
3	chr20:23584000-23587400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr20:23584000-23587400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr20:23584200-23587400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr20:23585000-23588800	Enhancers	Fetal Thymus	thymus
7	chr20:23586000-23588600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr20:23586200-23587200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr20:23586600-23590000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr20:23586800-23589000	Enhancers	HepG2	liver
11	chr20:23587000-23587200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr20:23587000-23587200	Enhancers	Fetal Brain Male	brain
13	chr20:23587000-23587400	Bivalent Enhancer	Placenta	Placenta
14	chr20:23587000-23587600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr20:23587000-23587600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr20:23587000-23587600	Enhancers	Fetal Muscle Trunk	muscle
17	chr20:23587000-23587600	Enhancers	Dnd41	blood
18	chr20:23587000-23587800	Enhancers	HMEC	breast
19	chr20:23587000-23588000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr20:23587000-23588200	Enhancers	Esophagus	oesophagus
21	chr20:23587000-23595600	Enhancers	Cortex derived primary cultured neurospheres	brain

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