Variant report

Variant	rs62108344
Chromosome Location	chr19:38198540-38198541
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10153500	0.82[AFR][1000 genomes]
rs1038084	0.81[AMR][1000 genomes]
rs10407657	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10424047	0.93[AFR][1000 genomes]
rs10424612	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1116234	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11879149	0.87[AFR][1000 genomes]
rs11880604	0.87[AFR][1000 genomes]
rs12981750	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2061778	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2126978	0.86[EUR][1000 genomes]
rs2891683	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2927744	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34743484	0.82[AFR][1000 genomes]
rs4802069	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56281742	0.89[AFR][1000 genomes]
rs57504517	0.93[AFR][1000 genomes]
rs60686304	0.84[AFR][1000 genomes]
rs62108260	0.82[AFR][1000 genomes]
rs62108262	0.86[AFR][1000 genomes]
rs62108289	0.87[AFR][1000 genomes]
rs62108290	0.82[AFR][1000 genomes]
rs62108292	0.86[AFR][1000 genomes]
rs62108293	0.85[AFR][1000 genomes]
rs62108297	0.89[AFR][1000 genomes]
rs62108354	0.83[AFR][1000 genomes]
rs62110183	0.83[AFR][1000 genomes]
rs7245981	0.90[AFR][1000 genomes]
rs7247175	0.82[AFR][1000 genomes]
rs7255283	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7259566	0.86[EUR][1000 genomes]
rs73932929	0.87[AFR][1000 genomes]
rs73932955	0.83[AFR][1000 genomes]
rs8102189	0.89[AFR][1000 genomes]
rs8102916	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8104124	0.83[AFR][1000 genomes]
rs8104747	0.86[AFR][1000 genomes]
rs8108261	0.89[AFR][1000 genomes]
rs8113076	0.81[AMR][1000 genomes];0.85[EUR][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	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv833820	chr19:38190721-38414049	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38183200-38208800	Weak transcription	Fetal Heart	heart
2	chr19:38184200-38201200	Weak transcription	Colonic Mucosa	Colon
3	chr19:38184400-38208800	Weak transcription	HepG2	liver
4	chr19:38187000-38207800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:38187000-38208000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:38187400-38199000	ZNF genes & repeats	A549	lung
7	chr19:38187400-38205800	Strong transcription	Dnd41	blood
8	chr19:38187400-38208000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:38188200-38209200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr19:38188400-38202000	Weak transcription	Placenta	Placenta
11	chr19:38189400-38209200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr19:38190000-38206600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr19:38190600-38209000	Weak transcription	Brain Substantia Nigra	brain
14	chr19:38190600-38209200	Weak transcription	HSMMtube	muscle
15	chr19:38190800-38198600	Weak transcription	HSMM	muscle
16	chr19:38190800-38202200	Weak transcription	NH-A	brain
17	chr19:38190800-38209000	Weak transcription	Stomach Mucosa	stomach
18	chr19:38190800-38209200	Weak transcription	Fetal Thymus	thymus
19	chr19:38190800-38209200	Weak transcription	Psoas Muscle	Psoas
20	chr19:38191200-38209200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr19:38191200-38209200	Weak transcription	Colon Smooth Muscle	Colon
22	chr19:38191600-38202000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr19:38192200-38203000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr19:38193800-38209000	Weak transcription	Hela-S3	cervix
25	chr19:38194000-38203000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr19:38194200-38202800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr19:38194600-38198800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr19:38194600-38206600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr19:38194800-38200400	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr19:38195200-38204400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr19:38195400-38199000	Strong transcription	Adipose Nuclei	Adipose
32	chr19:38195400-38199200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
33	chr19:38195600-38198600	Weak transcription	NHDF-Ad	bronchial
34	chr19:38195600-38201600	Strong transcription	Fetal Stomach	stomach
35	chr19:38195800-38199600	Strong transcription	Brain Germinal Matrix	brain
36	chr19:38196000-38200400	Strong transcription	Placenta Amnion	Placenta Amnion
37	chr19:38196000-38203000	ZNF genes & repeats	Liver	Liver
38	chr19:38196000-38204200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr19:38196200-38199200	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr19:38196200-38200800	Strong transcription	Fetal Brain Female	brain
41	chr19:38196200-38202200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr19:38196200-38202600	Strong transcription	Left Ventricle	heart
43	chr19:38196200-38204400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
44	chr19:38196600-38202200	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr19:38196600-38202200	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr19:38196600-38202400	Strong transcription	Stomach Smooth Muscle	stomach
47	chr19:38196800-38198600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr19:38196800-38198600	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr19:38196800-38198800	ZNF genes & repeats	Lung	lung
50	chr19:38196800-38202800	Strong transcription	Fetal Muscle Trunk	muscle

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