Variant report

Variant	rs7247152
Chromosome Location	chr19:55700861-55700862
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:55700194..55700967-chr2:110372037..110373032,2	Hela-S3	cervix:
2	chr19:55700532..55701173-chr3:73159931..73160608,2	HCT-116	colon:

Variant related genes	Relation type
ENSG00000223247	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1128712	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12459688	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12459887	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12459917	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12459921	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12459930	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12460445	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12461148	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12461170	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12461195	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12461202	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12462211	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12462430	0.82[AMR][1000 genomes]
rs12463268	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17458	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17782295	0.82[AMR][1000 genomes]
rs2071572	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2071574	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2288420	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2288518	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2288523	0.91[ASN][1000 genomes]
rs2301278	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34718815	0.90[ASN][1000 genomes]
rs3745922	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3803901	0.85[ASN][1000 genomes]
rs3803902	0.85[ASN][1000 genomes]
rs3803903	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3803904	0.85[ASN][1000 genomes]
rs3826887	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56666700	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs58017412	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58085926	0.81[AMR][1000 genomes]
rs61570139	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61704307	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7247378	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7251345	0.92[ASN][1000 genomes]
rs8101500	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8103223	0.91[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:40 , 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	chr19:55692600-55701200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr19:55692600-55717000	Strong transcription	Duodenum Mucosa	Duodenum
8	chr19:55693000-55702800	Weak transcription	Fetal Intestine Large	intestine
9	chr19:55694600-55702200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr19:55696400-55702600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr19:55697200-55705000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr19:55697400-55702600	Weak transcription	Gastric	stomach
13	chr19:55697600-55705000	Weak transcription	HepG2	liver
14	chr19:55697600-55708200	Weak transcription	Stomach Mucosa	stomach
15	chr19:55698000-55705000	Weak transcription	Colonic Mucosa	Colon
16	chr19:55698200-55702600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr19:55699600-55701000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr19:55700000-55701000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:55700000-55701200	Enhancers	Spleen	Spleen
20	chr19:55700000-55701400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr19:55700000-55701400	Flanking Active TSS	Hela-S3	cervix
22	chr19:55700000-55701400	Enhancers	HMEC	breast
23	chr19:55700000-55701400	Enhancers	HUVEC	blood vessel
24	chr19:55700200-55701200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr19:55700200-55701400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr19:55700200-55701400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr19:55700400-55701000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr19:55700400-55701000	Enhancers	Osteobl	bone
29	chr19:55700400-55701400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr19:55700400-55701400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr19:55700600-55701000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr19:55700600-55701200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr19:55700600-55701200	Flanking Active TSS	A549	lung
34	chr19:55700600-55701200	Enhancers	NH-A	brain
35	chr19:55700800-55701000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr19:55700800-55701200	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr19:55700800-55701200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr19:55700800-55701200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr19:55700800-55701200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr19:55700800-55701400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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