Variant report

Variant	rs56334607
Chromosome Location	chr14:39492648-39492649
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs17108815	0.81[EUR][1000 genomes]
rs45469295	0.80[EUR][1000 genomes]
rs45469795	0.89[EUR][1000 genomes]
rs45540035	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55790340	0.89[EUR][1000 genomes]
rs55880223	0.80[EUR][1000 genomes]
rs55981737	0.80[EUR][1000 genomes]
rs55987939	0.80[EUR][1000 genomes]
rs55997577	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56032918	0.80[EUR][1000 genomes]
rs56063785	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56074634	0.89[EUR][1000 genomes]
rs56087094	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56103446	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56125789	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56136756	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56225465	0.82[EUR][1000 genomes]
rs56237815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56276842	0.80[EUR][1000 genomes]
rs56282196	0.80[EUR][1000 genomes]
rs56328886	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56333870	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56335002	0.89[EUR][1000 genomes]
rs56341545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56404404	0.80[EUR][1000 genomes]
rs59418195	0.85[EUR][1000 genomes]
rs67808375	0.89[EUR][1000 genomes]
rs7147914	0.80[EUR][1000 genomes]
rs7150638	0.81[EUR][1000 genomes]
rs72669383	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72669388	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669397	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669399	0.80[EUR][1000 genomes]
rs72669400	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671304	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72671307	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671309	0.87[EUR][1000 genomes]
rs72671311	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671316	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671332	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671344	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671349	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671353	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671360	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671362	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671367	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671372	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671379	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671382	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671387	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671398	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671400	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673307	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673314	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673315	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673316	0.89[EUR][1000 genomes]
rs72673317	0.89[EUR][1000 genomes]
rs72673318	0.87[EUR][1000 genomes]
rs72673328	0.85[EUR][1000 genomes]
rs72673329	0.85[EUR][1000 genomes]
rs72673339	0.85[EUR][1000 genomes]
rs72673346	0.80[EUR][1000 genomes]
rs72673350	0.80[EUR][1000 genomes]
rs8009457	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1038622	chr14:39423562-39604035	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv564417	chr14:39452317-39535560	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39463600-39495200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr14:39465600-39498200	Weak transcription	NH-A	brain
3	chr14:39469200-39497400	Weak transcription	HSMM	muscle
4	chr14:39473400-39498800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:39479000-39493000	Weak transcription	A549	lung
6	chr14:39479600-39498000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr14:39479800-39492800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:39480200-39499000	Weak transcription	NHDF-Ad	bronchial
9	chr14:39482200-39495000	Weak transcription	HUVEC	blood vessel
10	chr14:39482800-39499200	Weak transcription	Right Ventricle	heart
11	chr14:39485200-39498600	Weak transcription	Aorta	Aorta
12	chr14:39486000-39498600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr14:39486400-39495400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:39486400-39497400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr14:39486400-39498600	Weak transcription	HSMMtube	muscle
16	chr14:39486600-39498600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr14:39486800-39495200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr14:39486800-39495200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr14:39486800-39498800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr14:39487000-39498000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr14:39487000-39499400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr14:39487200-39498600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr14:39487200-39498600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr14:39487200-39508600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr14:39491000-39492800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr14:39491200-39492800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr14:39491400-39499200	Weak transcription	NHEK	skin
28	chr14:39492000-39498800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr14:39492600-39492800	Enhancers	Duodenum Mucosa	Duodenum
30	chr14:39492600-39492800	Enhancers	HepG2	liver
31	chr14:39492600-39493400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr14:39492600-39494400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr14:39492600-39495400	Strong transcription	Osteobl	bone
34	chr14:39492600-39495600	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr14:39492600-39496400	Enhancers	Fetal Intestine Large	intestine
36	chr14:39492600-39496400	Enhancers	Fetal Intestine Small	intestine
37	chr14:39492600-39498800	Weak transcription	H9 Cell Line	embryonic stem cell

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