Variant report

Variant	rs10402039
Chromosome Location	chr19:36659504-36659505
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:36654605..36656507-chr19:36659169..36663563,3	K562	blood:
2	chr19:36630474..36632360-chr19:36658815..36660457,2	K562	blood:
3	chr19:36545308..36547360-chr19:36658734..36661646,2	K562	blood:

Variant related genes	Relation type
ENSG00000161277	Chromatin interaction
ENSG00000075702	Chromatin interaction
ENSG00000126247	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10401633	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10402069	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10402367	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10403200	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10405169	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10409235	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10410837	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10420462	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10426507	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1476503	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1476504	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1559258	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1974843	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2112971	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4372806	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4630678	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4805162	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4806282	0.92[ASN][1000 genomes]
rs6510526	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7249719	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7258520	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8103261	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	esv2752541	chr19:36563057-36690874	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS 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	53 gene(s)	inside rSNPs	diseases
5	nsv579425	chr19:36643695-36685753	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36638400-36661600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr19:36642000-36660000	Weak transcription	Stomach Mucosa	stomach
3	chr19:36642200-36660000	Weak transcription	Brain Substantia Nigra	brain
4	chr19:36642200-36660000	Weak transcription	Hela-S3	cervix
5	chr19:36642200-36673400	Weak transcription	Primary B cells from cord blood	blood
6	chr19:36642400-36661400	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr19:36642400-36661400	Weak transcription	Dnd41	blood
8	chr19:36642600-36660000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr19:36642600-36660000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr19:36642800-36661600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr19:36643000-36661400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr19:36643000-36661400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr19:36643000-36661400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr19:36643000-36661600	Weak transcription	Liver	Liver
15	chr19:36643000-36661600	Weak transcription	HepG2	liver
16	chr19:36643000-36673800	Weak transcription	NH-A	brain
17	chr19:36643800-36661400	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr19:36643800-36661400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr19:36643800-36661600	Weak transcription	Brain Hippocampus Middle	brain
20	chr19:36643800-36673200	Weak transcription	Brain Germinal Matrix	brain
21	chr19:36644000-36660000	Weak transcription	Fetal Kidney	kidney
22	chr19:36644000-36660800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr19:36644000-36661400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr19:36644000-36661400	Weak transcription	Osteobl	bone
25	chr19:36644200-36661600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr19:36644400-36660000	Weak transcription	HSMMtube	muscle
27	chr19:36644400-36661400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr19:36644400-36661400	Weak transcription	Fetal Lung	lung
29	chr19:36644400-36661600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr19:36644400-36661600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr19:36644400-36673000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr19:36644400-36673200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr19:36644400-36673400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr19:36644400-36673400	Weak transcription	Brain Angular Gyrus	brain
35	chr19:36644800-36660000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr19:36645200-36660200	Weak transcription	Fetal Heart	heart
37	chr19:36652400-36673400	Weak transcription	Fetal Brain Female	brain
38	chr19:36652600-36660400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr19:36652800-36661600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr19:36653000-36661200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr19:36653000-36661600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr19:36653000-36661600	Weak transcription	K562	blood
43	chr19:36653000-36661800	Weak transcription	GM12878-XiMat	blood
44	chr19:36653000-36673400	Weak transcription	Primary T cells from cord blood	blood
45	chr19:36653200-36659600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr19:36653200-36659800	Weak transcription	Duodenum Mucosa	Duodenum
47	chr19:36653200-36659800	Weak transcription	Fetal Muscle Trunk	muscle
48	chr19:36653200-36659800	Weak transcription	Fetal Muscle Leg	muscle
49	chr19:36653200-36659800	Weak transcription	Left Ventricle	heart
50	chr19:36653200-36659800	Weak transcription	Lung	lung

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