Variant report

Variant	rs10993031
Chromosome Location	chr9:96791548-96791549
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:96791349-96793598	HepG2	liver:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:96790378..96795979-chr9:96796527..96801819,13	MCF-7	breast:
2	chr9:96790823..96795467-chr9:96925835..96932235,7	K562	blood:
3	chr9:96778715..96781374-chr9:96789019..96791768,2	K562	blood:
4	chr9:96791026..96792800-chr9:96856915..96858416,2	MCF-7	breast:
5	chr9:96789685..96792182-chr9:96794422..96796039,2	K562	blood:
6	chr9:96791196..96792768-chr9:96963356..96966651,3	MCF-7	breast:
7	chr9:96790406..96793524-chr9:96937356..96939962,3	MCF-7	breast:
8	chr9:96791020..96793870-chr9:96797908..96800825,2	K562	blood:
9	chr9:96790341..96794271-chr9:96926817..96931236,5	K562	blood:

No data

No data

No data

Variant related genes	Relation type
PTPDC1	TF binding region
ENSG00000269946	Chromatin interaction
ENSG00000227666	Chromatin interaction
ENSG00000199165	Chromatin interaction
ENSG00000199072	Chromatin interaction
ENSG00000269929	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10821279	1.00[AFR][1000 genomes]
rs10821287	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10821288	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10993012	1.00[AFR][1000 genomes]
rs10993013	1.00[AFR][1000 genomes]
rs10993015	1.00[AFR][1000 genomes]
rs10993016	1.00[AFR][1000 genomes]
rs10993019	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10993029	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10993045	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs10993046	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12375599	1.00[AFR][1000 genomes]
rs16909652	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4330748	1.00[AFR][1000 genomes]
rs4609253	0.85[EUR][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	nsv893589	chr9:96624645-96884544	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	esv3426132	chr9:96782446-96794518	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96788600-96792200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr9:96788800-96792400	Weak transcription	Esophagus	oesophagus
3	chr9:96789000-96792400	Weak transcription	Pancreas	Pancrea
4	chr9:96789800-96791800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr9:96789800-96792000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr9:96789800-96792400	Weak transcription	Gastric	stomach
7	chr9:96789800-96792400	Weak transcription	Right Atrium	heart
8	chr9:96790000-96791800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr9:96791200-96791800	Enhancers	HepG2	liver

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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