Variant report

Variant	rs1549591
Chromosome Location	chr12:46387213-46387214
allele	G/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	HCFC1	chr12:46383104-46387294	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:46382586..46387481-chr12:46763277..46769922,9	K562	blood:
2	chr12:46117578..46127110-chr12:46379884..46387671,22	K562	blood:
3	chr12:46119117..46128831-chr12:46378175..46388065,20	MCF-7	breast:
4	chr12:46386056..46388069-chr12:46453860..46456681,2	K562	blood:
5	chr12:46382194..46387214-chr12:46392482..46398742,9	MCF-7	breast:
6	chr12:46387187..46389675-chr12:46516177..46518517,2	K562	blood:
7	chr12:46381984..46384218-chr12:46387079..46389298,2	K562	blood:
8	chr12:46386096..46387610-chr12:46526095..46527878,2	MCF-7	breast:
9	chr12:45607714..45610119-chr12:46385742..46387348,2	K562	blood:

No data

No data

No data

Variant related genes	Relation type
SCAF11	TF binding region
ENSG00000134297	Chromatin interaction
ENSG00000189079	Chromatin interaction
ENSG00000258096	Chromatin interaction
ENSG00000177119	Chromatin interaction
ENSG00000239397	Chromatin interaction
ENSG00000273015	Chromatin interaction
ENSG00000134294	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10161536	1.00[EUR][1000 genomes]
rs10506264	1.00[EUR][1000 genomes]
rs11183248	1.00[EUR][1000 genomes]
rs11574971	1.00[EUR][1000 genomes]
rs12298184	1.00[EUR][1000 genomes]
rs12307979	1.00[EUR][1000 genomes]
rs15852	1.00[EUR][1000 genomes]
rs17096316	1.00[EUR][1000 genomes]
rs61009645	1.00[EUR][1000 genomes]
rs6582580	1.00[EUR][1000 genomes]
rs7304785	1.00[EUR][1000 genomes]
rs7306774	1.00[EUR][1000 genomes]
rs7310702	1.00[EUR][1000 genomes]
rs74081279	1.00[EUR][1000 genomes]
rs74081280	1.00[EUR][1000 genomes]
rs74081611	1.00[EUR][1000 genomes]
rs7965539	1.00[EUR][1000 genomes]
rs7970212	1.00[EUR][1000 genomes]
rs7970367	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7971936	1.00[EUR][1000 genomes]
rs7972499	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	nsv832397	chr12:46265990-46453733	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv983463	chr12:46377328-46403983	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46386200-46388000	Weak transcription	Brain Substantia Nigra	brain
2	chr12:46386200-46388200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:46386200-46388800	Weak transcription	Brain Angular Gyrus	brain
4	chr12:46386200-46388800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr12:46386400-46387400	Enhancers	Fetal Intestine Large	intestine
6	chr12:46386400-46388600	Weak transcription	Brain Anterior Caudate	brain
7	chr12:46386800-46388600	Weak transcription	HepG2	liver
8	chr12:46386800-46388800	Weak transcription	Brain Hippocampus Middle	brain
9	chr12:46386800-46388800	Weak transcription	Right Ventricle	heart
10	chr12:46387200-46388200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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

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