Variant report

Variant	rs7142748
Chromosome Location	chr14:39872693-39872694
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10143351	0.86[ASN][1000 genomes]
rs10145949	0.85[ASN][1000 genomes]
rs12882250	0.92[AFR][1000 genomes]
rs12893829	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12897960	0.91[AFR][1000 genomes]
rs1955703	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2415543	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4899245	0.92[AFR][1000 genomes]
rs4902558	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4902560	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4902598	0.92[AFR][1000 genomes]
rs7153413	0.88[AFR][1000 genomes]
rs7160664	0.85[ASN][1000 genomes]
rs7161403	0.92[AFR][1000 genomes]
rs8006893	0.86[ASN][1000 genomes]
rs8012768	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8019328	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037183	chr14:39736939-39949233	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv542048	chr14:39736939-39949233	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39836200-39872800	Weak transcription	Esophagus	oesophagus
2	chr14:39840000-39882600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:39846200-39878800	Weak transcription	Right Ventricle	heart
4	chr14:39853600-39874200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr14:39860200-39882200	Weak transcription	Fetal Heart	heart
6	chr14:39861400-39874000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:39862000-39886000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:39862400-39874800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr14:39863200-39873000	Weak transcription	Lung	lung
10	chr14:39863400-39874000	Weak transcription	Fetal Lung	lung
11	chr14:39863400-39891600	Weak transcription	Small Intestine	intestine
12	chr14:39864600-39898800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr14:39865000-39891200	Weak transcription	Psoas Muscle	Psoas
14	chr14:39865000-39898200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr14:39865200-39878800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr14:39867200-39872800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr14:39867400-39874200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr14:39867800-39875600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr14:39868000-39883400	Weak transcription	Thymus	Thymus
20	chr14:39868400-39873400	Weak transcription	Fetal Brain Female	brain
21	chr14:39869000-39872800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr14:39869000-39873800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr14:39869000-39874400	Weak transcription	Pancreas	Pancrea
24	chr14:39869000-39876000	Weak transcription	A549	lung
25	chr14:39869000-39879600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr14:39869000-39879800	Weak transcription	Fetal Kidney	kidney
27	chr14:39869000-39883800	Weak transcription	Left Ventricle	heart
28	chr14:39869000-39886200	Weak transcription	Aorta	Aorta
29	chr14:39869000-39886200	Weak transcription	Ovary	ovary
30	chr14:39869000-39895600	Weak transcription	Hela-S3	cervix
31	chr14:39869200-39873800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr14:39869200-39875800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr14:39869200-39877600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr14:39869200-39884400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr14:39869600-39873000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr14:39869600-39873000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr14:39869600-39875400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr14:39870400-39885200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr14:39870800-39873000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr14:39870800-39879000	Weak transcription	Placenta	Placenta
41	chr14:39870800-39881600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr14:39871000-39872800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr14:39871000-39872800	Weak transcription	Dnd41	blood
44	chr14:39871000-39873400	Weak transcription	HSMM	muscle
45	chr14:39871000-39873800	Weak transcription	Brain Germinal Matrix	brain
46	chr14:39871000-39874400	Weak transcription	GM12878-XiMat	blood
47	chr14:39871000-39875400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr14:39871000-39875600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr14:39871000-39875600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr14:39871000-39875800	Weak transcription	Rectal Mucosa Donor 29	rectum

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