Variant report

Variant	rs12463268
Chromosome Location	chr19:55702143-55702144
allele	A/G
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: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1128712	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12459688	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12459887	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12459917	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12459921	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12459930	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12460445	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12461148	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12461170	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12461195	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12461202	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12462211	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12462430	0.85[AMR][1000 genomes]
rs12608558	0.83[AMR][1000 genomes]
rs17458	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17782295	0.85[AMR][1000 genomes]
rs2071572	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2071574	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2288420	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2288518	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2288523	0.96[ASN][1000 genomes]
rs2301278	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34718815	0.88[ASN][1000 genomes]
rs3745922	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3803903	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3826887	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3848618	0.80[AMR][1000 genomes]
rs56666700	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56726774	0.80[AMR][1000 genomes]
rs58017412	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58085926	0.84[AMR][1000 genomes]
rs58824375	0.80[AMR][1000 genomes]
rs60799292	0.80[AMR][1000 genomes]
rs61570139	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61704307	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7247152	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7247378	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7251345	0.97[ASN][1000 genomes]
rs8101500	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8103223	0.96[ASN][1000 genomes]
rs9710458	0.81[EUR][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	chr19:55693000-55702800	Weak transcription	Fetal Intestine Large	intestine
8	chr19:55694600-55702200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:55696400-55702600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr19:55697200-55705000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr19:55697400-55702600	Weak transcription	Gastric	stomach
12	chr19:55697600-55705000	Weak transcription	HepG2	liver
13	chr19:55697600-55708200	Weak transcription	Stomach Mucosa	stomach
14	chr19:55698000-55705000	Weak transcription	Colonic Mucosa	Colon
15	chr19:55698200-55702600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr19:55701200-55702600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr19:55701200-55702600	Weak transcription	Spleen	Spleen
18	chr19:55701200-55703600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr19:55701200-55718000	Weak transcription	A549	lung
20	chr19:55701400-55702600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr19:55701400-55702600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr19:55701400-55711600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr19:55701400-55718400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr19:55701600-55702600	Weak transcription	Hela-S3	cervix

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