Variant report

Variant	rs13344409
Chromosome Location	chr19:36653513-36653514
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36636004..36639367-chr19:36650877..36653820,3	K562	blood:
2	chr19:36643816..36646322-chr19:36651862..36654604,2	K562	blood:

Variant related genes	Relation type
ENSG00000270760	Chromatin interaction
ENSG00000126247	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1049339	0.95[EUR][1000 genomes]
rs12974966	0.97[EUR][1000 genomes]
rs17878680	0.85[EUR][1000 genomes]
rs34859504	0.90[EUR][1000 genomes]
rs71354119	0.97[EUR][1000 genomes]
rs7253228	0.90[AFR][1000 genomes]
rs7255180	0.95[EUR][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:100 , 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	chr19:36642200-36654200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr19:36642200-36660000	Weak transcription	Brain Substantia Nigra	brain
5	chr19:36642200-36660000	Weak transcription	Hela-S3	cervix
6	chr19:36642200-36673400	Weak transcription	Primary B cells from cord blood	blood
7	chr19:36642400-36661400	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr19:36642400-36661400	Weak transcription	Dnd41	blood
9	chr19:36642600-36660000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr19:36642600-36660000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr19:36642800-36661600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr19:36643000-36661400	Weak transcription	Primary B cells from peripheral blood	blood
13	chr19:36643000-36661400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr19:36643000-36661400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr19:36643000-36661600	Weak transcription	Liver	Liver
16	chr19:36643000-36661600	Weak transcription	HepG2	liver
17	chr19:36643000-36673800	Weak transcription	NH-A	brain
18	chr19:36643800-36661400	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr19:36643800-36661400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr19:36643800-36661600	Weak transcription	Brain Hippocampus Middle	brain
21	chr19:36643800-36673200	Weak transcription	Brain Germinal Matrix	brain
22	chr19:36644000-36660000	Weak transcription	Fetal Kidney	kidney
23	chr19:36644000-36660800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr19:36644000-36661400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr19:36644000-36661400	Weak transcription	Osteobl	bone
26	chr19:36644200-36661600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:36644400-36657200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr19:36644400-36660000	Weak transcription	HSMMtube	muscle
29	chr19:36644400-36661400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr19:36644400-36661400	Weak transcription	Fetal Lung	lung
31	chr19:36644400-36661600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr19:36644400-36661600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr19:36644400-36673000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr19:36644400-36673200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr19:36644400-36673400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr19:36644400-36673400	Weak transcription	Brain Angular Gyrus	brain
37	chr19:36644800-36660000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr19:36645200-36660200	Weak transcription	Fetal Heart	heart
39	chr19:36651800-36658200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr19:36652000-36654800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr19:36652400-36653600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr19:36652400-36657600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr19:36652400-36673400	Weak transcription	Fetal Brain Female	brain
44	chr19:36652600-36660400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr19:36652800-36659200	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr19:36652800-36661600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr19:36653000-36658000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr19:36653000-36659200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr19:36653000-36661200	Weak transcription	Stomach Smooth Muscle	stomach
50	chr19:36653000-36661600	Weak transcription	H1 Cell Line	embryonic stem cell

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