Variant report

Variant	rs2288523
Chromosome Location	chr19:55702910-55702911
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:55694739..55698576-chr19:55700961..55704975,5	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11667629	0.86[EUR][1000 genomes]
rs12463268	0.96[ASN][1000 genomes]
rs34718815	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3803901	0.82[ASN][1000 genomes]
rs3803902	0.82[ASN][1000 genomes]
rs3803904	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61704307	0.95[ASN][1000 genomes]
rs7247152	0.91[ASN][1000 genomes]
rs7247378	0.91[ASN][1000 genomes]
rs7251345	0.94[ASN][1000 genomes]
rs8101500	0.95[ASN][1000 genomes]
rs8103223	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	esv1816335	chr19:55683977-55901099	Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55691200-55718200	Weak transcription	Right Atrium	heart
2	chr19:55691600-55718200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:55691800-55717600	Strong transcription	Fetal Intestine Small	intestine
4	chr19:55692000-55707800	Weak transcription	K562	blood
5	chr19:55692200-55710000	Weak transcription	Pancreas	Pancrea
6	chr19:55692600-55717000	Strong transcription	Duodenum Mucosa	Duodenum
7	chr19:55697200-55705000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr19:55697600-55705000	Weak transcription	HepG2	liver
9	chr19:55697600-55708200	Weak transcription	Stomach Mucosa	stomach
10	chr19:55698000-55705000	Weak transcription	Colonic Mucosa	Colon
11	chr19:55701200-55703600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr19:55701200-55718000	Weak transcription	A549	lung
13	chr19:55701400-55711600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr19:55701400-55718400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr19:55702600-55703000	ZNF genes & repeats	Gastric	stomach
16	chr19:55702600-55703000	Strong transcription	Spleen	Spleen
17	chr19:55702600-55703200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr19:55702600-55703400	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr19:55702600-55703400	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr19:55702600-55714800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr19:55702800-55703000	Flanking Active TSS	Hela-S3	cervix
22	chr19:55702800-55703600	Strong transcription	Fetal Intestine Large	intestine
23	chr19:55702800-55706200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr19:55702800-55713400	Weak transcription	Small Intestine	intestine

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