Variant report

Variant	rs56083537
Chromosome Location	chr15:50493954-50493955
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:50492672..50495019-chr15:50529242..50532008,2	K562	blood:
2	chr15:50491560..50494174-chr15:50498633..50500474,2	K562	blood:
3	chr15:50485533..50488870-chr15:50492194..50494725,4	MCF-7	breast:
4	chr15:50491416..50494246-chr15:50645228..50647572,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000244879	Chromatin interaction
ENSG00000104064	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11070756	0.81[ASN][1000 genomes]
rs11070757	0.81[ASN][1000 genomes]
rs11854761	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11854881	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11858160	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16963441	0.86[AMR][1000 genomes]
rs17415862	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17499726	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2414037	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34490804	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3803371	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55740521	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55828351	0.86[AMR][1000 genomes]
rs55852503	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55853214	0.85[ASN][1000 genomes]
rs55970302	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56306192	0.86[AMR][1000 genomes]
rs57335604	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58277329	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59690694	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60383354	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60387657	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66472276	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7182866	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72737014	0.81[ASN][1000 genomes]
rs72737020	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72737025	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72737026	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72737028	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72737030	0.81[ASN][1000 genomes]
rs72737033	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72737034	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72737035	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72737040	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72737046	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72737047	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72737057	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72737059	0.90[AMR][1000 genomes]
rs72737086	0.86[AMR][1000 genomes]
rs73395114	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8033014	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9672196	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1035983	chr15:50223334-50595170	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv542382	chr15:50223334-50595170	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50476000-50503400	Weak transcription	Colonic Mucosa	Colon
2	chr15:50476600-50498000	Weak transcription	Pancreas	Pancrea
3	chr15:50477600-50498000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr15:50477600-50502200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr15:50478400-50502400	Weak transcription	Placenta	Placenta
6	chr15:50480400-50501600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr15:50482000-50502800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr15:50482600-50501800	Weak transcription	A549	lung
9	chr15:50483200-50497400	Weak transcription	K562	blood
10	chr15:50486800-50498000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr15:50487000-50494600	Weak transcription	Fetal Intestine Large	intestine
12	chr15:50488800-50499000	Weak transcription	Small Intestine	intestine
13	chr15:50489400-50502200	Strong transcription	Hela-S3	cervix
14	chr15:50489600-50497400	Strong transcription	Liver	Liver
15	chr15:50490000-50500800	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr15:50490000-50501800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr15:50491200-50494400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr15:50492200-50496000	Weak transcription	HepG2	liver
19	chr15:50492600-50495000	Strong transcription	Primary hematopoietic stem cells	blood
20	chr15:50492600-50503000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr15:50492800-50496000	Weak transcription	Fetal Intestine Small	intestine
22	chr15:50493200-50494000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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