Variant report

Variant	rs11575216
Chromosome Location	chr12:56755457-56755458
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:56755120-56755653	HepG2	liver:	n/a	n/a
2	RAD21	chr12:56755339-56755664	HepG2	liver:	n/a	n/a
3	POLR2A	chr12:56755447-56755517	K562	blood:	n/a	n/a
4	POLR2A	chr12:56755295-56755749	HepG2	liver:	n/a	n/a
5	POLR2A	chr12:56754943-56755652	GM12878	blood:	n/a	n/a
6	POLR2A	chr12:56755439-56755591	HepG2	liver:	n/a	n/a
7	HEY1	chr12:56755249-56755787	HepG2	liver:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:56710034..56711597-chr12:56754145..56755894,2	K562	blood:
2	chr12:56754664..56756390-chr12:56756425..56758506,2	K562	blood:
3	chr12:56748050..56751002-chr12:56753460..56756305,2	K562	blood:
4	chr12:56692272..56694110-chr12:56755146..56757372,2	K562	blood:
5	chr12:56753830..56756625-chr12:57028420..57030715,2	MCF-7	breast:
6	chr12:56726570..56729841-chr12:56754004..56757409,3	MCF-7	breast:
7	chr12:56694141..56695948-chr12:56754133..56756336,2	MCF-7	breast:
8	chr12:56753916..56755760-chr12:56841528..56845904,3	K562	blood:
9	chr12:56716783..56718738-chr12:56753948..56755499,2	K562	blood:
10	chr12:56582392..56584464-chr12:56753681..56756139,2	MCF-7	breast:
11	chr12:56721052..56723021-chr12:56754281..56756582,2	MCF-7	breast:
12	chr12:56753203..56755632-chr12:56841567..56843289,3	MCF-7	breast:

No data

No data

No data

Variant related genes	Relation type
STAT2	TF binding region
ENSG00000257727	Chromatin interaction
ENSG00000062485	Chromatin interaction
ENSG00000258199	Chromatin interaction
ENSG00000139613	Chromatin interaction
ENSG00000175336	Chromatin interaction
ENSG00000257303	Chromatin interaction
ENSG00000135473	Chromatin interaction
ENSG00000076108	Chromatin interaction
ENSG00000111602	Chromatin interaction
ENSG00000170581	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11575215	0.86[AFR][1000 genomes]
rs60484388	1.00[EUR][1000 genomes]
rs7303708	1.00[EUR][1000 genomes]
rs7304678	1.00[EUR][1000 genomes]
rs73326276	1.00[EUR][1000 genomes]
rs9737784	1.00[EUR][1000 genomes]
rs9739600	1.00[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	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56752400-56755600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:56753000-56755600	Active TSS	Brain Anterior Caudate	brain
3	chr12:56753400-56756800	Active TSS	Liver	Liver
4	chr12:56754600-56755600	Flanking Active TSS	Dnd41	blood
5	chr12:56754600-56756800	Flanking Active TSS	HepG2	liver
6	chr12:56754800-56755600	Enhancers	Primary B cells from peripheral blood	blood
7	chr12:56754800-56755600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:56754800-56755600	Enhancers	Fetal Thymus	thymus
9	chr12:56754800-56755800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
10	chr12:56755000-56755600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr12:56755000-56755600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr12:56755000-56755600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr12:56755000-56755600	Enhancers	Pancreas	Pancrea
14	chr12:56755200-56755600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:56755200-56755600	Enhancers	K562	blood
16	chr12:56755200-56755800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:56755400-56755600	Enhancers	Lung	lung
18	chr12:56755400-56755600	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr12:56755400-56755800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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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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