Variant report

Variant	rs12717944
Chromosome Location	chr5:145169352-145169353
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:145160263..145163172-chr5:145167851..145170610,3	K562	blood:
2	chr5:145168744..145170576-chr5:145174664..145176275,2	K562	blood:
3	chr5:145160263..145163172-chr5:145168615..145170610,2	K562	blood:

Variant related genes	Relation type
ENSG00000186314	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10052821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17104084	1.00[AMR][1000 genomes]
rs57203937	1.00[AMR][1000 genomes]
rs57484295	1.00[AMR][1000 genomes]
rs57882831	1.00[AMR][1000 genomes]
rs73306030	1.00[AMR][1000 genomes]
rs73310182	1.00[AMR][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	nsv1021851	chr5:145106686-145187560	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145105400-145179000	Weak transcription	Pancreas	Pancrea
2	chr5:145109400-145194400	Weak transcription	Colonic Mucosa	Colon
3	chr5:145141200-145194400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr5:145152200-145171000	Weak transcription	Stomach Mucosa	stomach
5	chr5:145154600-145169600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr5:145156000-145171400	Weak transcription	Aorta	Aorta
7	chr5:145158400-145171400	Weak transcription	Fetal Stomach	stomach
8	chr5:145158400-145176800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:145158400-145177000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:145158400-145179000	Weak transcription	Gastric	stomach
11	chr5:145158400-145196400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr5:145158400-145207000	Weak transcription	Esophagus	oesophagus
13	chr5:145161000-145176600	Weak transcription	HUVEC	blood vessel
14	chr5:145161000-145183400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr5:145162800-145171400	Weak transcription	Lung	lung
16	chr5:145162800-145198200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:145162800-145212800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr5:145163600-145170000	Weak transcription	Fetal Intestine Large	intestine
19	chr5:145164200-145172600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:145165800-145184800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr5:145166600-145174800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:145166800-145170400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr5:145167000-145176800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:145167200-145171400	Weak transcription	Adipose Nuclei	Adipose
25	chr5:145167200-145172400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr5:145167200-145172400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr5:145167200-145185200	Weak transcription	K562	blood
28	chr5:145167400-145172400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr5:145167400-145174600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:145167400-145174800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:145167400-145176000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:145167400-145176800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr5:145167400-145200600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr5:145167600-145174800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr5:145167600-145176800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:145167800-145169400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr5:145167800-145173800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr5:145167800-145179000	Weak transcription	Ovary	ovary
39	chr5:145167800-145191600	Weak transcription	Left Ventricle	heart
40	chr5:145167800-145194800	Weak transcription	Fetal Lung	lung
41	chr5:145168000-145183000	Weak transcription	Fetal Intestine Small	intestine
42	chr5:145168000-145203600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr5:145168200-145171800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr5:145168200-145176400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr5:145168200-145191200	Weak transcription	Fetal Heart	heart
46	chr5:145169200-145170000	Strong transcription	Rectal Mucosa Donor 29	rectum

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