Variant report

Variant	rs62121382
Chromosome Location	chr19:38495189-38495190
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:38487801..38491019-chr19:38493039..38496104,5	MCF-7	breast:
2	chr19:38480879..38483750-chr19:38494788..38496320,2	MCF-7	breast:
3	chr19:38494462..38497126-chr19:38513514..38515017,2	MCF-7	breast:
4	chr19:38485116..38487856-chr19:38494383..38496090,2	K562	blood:
5	chr19:38395923..38398238-chr19:38494250..38495788,2	MCF-7	breast:
6	chr19:38494718..38497085-chr19:38500858..38502936,2	K562	blood:
7	chr19:38397211..38400435-chr19:38493198..38497006,5	MCF-7	breast:
8	chr19:38485452..38487493-chr19:38494216..38495870,2	MCF-7	breast:
9	chr19:38490534..38492091-chr19:38493465..38495322,2	MCF-7	breast:
10	chr19:38472838..38474664-chr19:38494090..38496793,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000171804	Chromatin interaction
ENSG00000105738	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17349787	0.87[EUR][1000 genomes]
rs62110180	1.00[AFR][1000 genomes]
rs62121387	0.87[EUR][1000 genomes]
rs62121420	0.87[EUR][1000 genomes]
rs62121443	1.00[AFR][1000 genomes];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	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

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38474800-38513600	Weak transcription	Gastric	stomach
2	chr19:38485800-38496000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr19:38490400-38495800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:38493400-38497800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr19:38493600-38495200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:38493600-38495200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr19:38493600-38495600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr19:38493600-38496000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr19:38493800-38495200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr19:38493800-38495200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr19:38493800-38495200	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr19:38493800-38495200	Flanking Active TSS	Primary B cells from peripheral blood	blood
13	chr19:38493800-38495200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr19:38493800-38495200	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr19:38493800-38495200	Enhancers	Dnd41	blood
16	chr19:38493800-38495200	Flanking Active TSS	NH-A	brain
17	chr19:38493800-38495200	Flanking Active TSS	NHDF-Ad	bronchial
18	chr19:38493800-38495400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr19:38493800-38495400	Flanking Active TSS	Fetal Thymus	thymus
20	chr19:38493800-38495600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr19:38493800-38495600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr19:38493800-38495600	Flanking Active TSS	Fetal Lung	lung
23	chr19:38493800-38495600	Flanking Active TSS	Fetal Stomach	stomach
24	chr19:38493800-38495600	Flanking Active TSS	HMEC	breast
25	chr19:38493800-38495600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr19:38493800-38495800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr19:38493800-38495800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr19:38493800-38495800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr19:38493800-38495800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr19:38493800-38495800	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr19:38493800-38495800	Flanking Active TSS	Fetal Muscle Trunk	muscle
32	chr19:38493800-38495800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr19:38493800-38495800	Flanking Active TSS	GM12878-XiMat	blood
34	chr19:38493800-38495800	Flanking Active TSS	HSMM	muscle
35	chr19:38493800-38495800	Flanking Active TSS	HSMMtube	muscle
36	chr19:38493800-38496000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr19:38493800-38496000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr19:38493800-38496000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr19:38493800-38496000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr19:38493800-38496000	Flanking Active TSS	NHEK	skin
41	chr19:38493800-38496200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr19:38493800-38496200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:38493800-38496400	Flanking Active TSS	Osteobl	bone
44	chr19:38493800-38497400	Enhancers	Spleen	Spleen
45	chr19:38494000-38495200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
46	chr19:38494000-38495200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr19:38494000-38495200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr19:38494000-38495200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr19:38494000-38495200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr19:38494000-38495200	Flanking Active TSS	Primary hematopoietic stem cells	blood

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