Variant report

Variant	rs61993959
Chromosome Location	chr14:20747879-20747880
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:20738427..20740825-chr14:20746566..20748519,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1953550	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2002245	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2318863	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3093868	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3093871	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3093883	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3093894	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3093926	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs45583431	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs45622542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56383558	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58959974	1.00[ASN][1000 genomes]
rs60052229	1.00[ASN][1000 genomes]
rs61993950	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs61993951	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs61993952	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs61993953	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs61993956	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs61993957	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61993958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995461	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995462	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995493	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995495	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995497	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995498	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995500	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995503	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995504	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995508	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995509	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995513	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995534	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995536	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995537	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995538	0.81[AMR][1000 genomes]
rs61995540	1.00[AFR][1000 genomes]
rs61995542	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995544	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995545	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995546	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72671246	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671250	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73585150	1.00[ASN][1000 genomes]
rs8010392	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901299	chr14:20191869-20756887	Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
4	nsv1043938	chr14:20427182-20776276	Active TSS Enhancers Weak transcription Strong transcription 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	29 gene(s)	inside rSNPs	diseases
5	nsv541971	chr14:20427182-20776276	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv1037160	chr14:20517485-20901811	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
7	nsv541974	chr14:20517485-20901811	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
8	nsv869984	chr14:20732655-20776216	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv1806993	chr14:20743269-20841162	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20722600-20755000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:20724400-20755200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr14:20725400-20748200	Weak transcription	Ovary	ovary
4	chr14:20731400-20755600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr14:20731400-20757000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:20731600-20754400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr14:20740200-20755200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr14:20740600-20754600	Weak transcription	Brain Hippocampus Middle	brain
9	chr14:20741200-20756400	Weak transcription	Gastric	stomach
10	chr14:20741200-20757400	Weak transcription	Right Ventricle	heart
11	chr14:20741400-20755800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr14:20741600-20755200	Weak transcription	Aorta	Aorta
13	chr14:20741600-20755200	Weak transcription	Pancreas	Pancrea
14	chr14:20742400-20756600	Weak transcription	Spleen	Spleen
15	chr14:20742400-20759000	Weak transcription	Colon Smooth Muscle	Colon
16	chr14:20742600-20756400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr14:20742800-20754800	Weak transcription	Adipose Nuclei	Adipose
18	chr14:20742800-20755200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr14:20742800-20755800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr14:20742800-20756600	Weak transcription	Colonic Mucosa	Colon
21	chr14:20742800-20756600	Weak transcription	Lung	lung
22	chr14:20743000-20754600	Weak transcription	Primary B cells from cord blood	blood
23	chr14:20743000-20755200	Weak transcription	Left Ventricle	heart
24	chr14:20743000-20756800	Weak transcription	Osteobl	bone
25	chr14:20743200-20748200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr14:20743400-20748000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr14:20743600-20755200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr14:20743600-20761800	Weak transcription	Psoas Muscle	Psoas
29	chr14:20743800-20748000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:20743800-20755200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr14:20743800-20756400	Weak transcription	Thymus	Thymus
32	chr14:20744000-20748200	Weak transcription	Esophagus	oesophagus
33	chr14:20744000-20754400	Weak transcription	HSMM	muscle
34	chr14:20744000-20755400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr14:20744000-20755400	Weak transcription	A549	lung
36	chr14:20744000-20757000	Weak transcription	Brain Substantia Nigra	brain
37	chr14:20744200-20754800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr14:20744200-20756800	Weak transcription	HSMMtube	muscle
39	chr14:20744400-20748200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr14:20744600-20748400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:20744800-20754800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr14:20744800-20754800	Weak transcription	NHDF-Ad	bronchial
43	chr14:20744800-20755200	Weak transcription	GM12878-XiMat	blood
44	chr14:20745000-20748200	Weak transcription	Primary B cells from peripheral blood	blood
45	chr14:20745200-20749200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr14:20745200-20755400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr14:20745200-20756800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr14:20745400-20748200	Weak transcription	HepG2	liver
49	chr14:20745600-20749000	Strong transcription	Fetal Intestine Large	intestine
50	chr14:20745600-20749000	Strong transcription	Fetal Lung	lung

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