Variant report

Variant	rs58509998
Chromosome Location	chr19:36636637-36636638
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36635447..36638773-chr19:36641889..36645478,3	K562	blood:
2	chr19:36635772..36637555-chr19:36705789..36707718,2	K562	blood:

Variant related genes	Relation type
ENSG00000167635	Chromatin interaction
ENSG00000196357	Chromatin interaction
ENSG00000161281	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs55788063	1.00[AMR][1000 genomes]
rs55914742	1.00[AMR][1000 genomes]
rs59315532	1.00[AMR][1000 genomes]
rs73928388	1.00[AMR][1000 genomes]
rs73928392	1.00[AMR][1000 genomes]
rs73928607	1.00[AMR][1000 genomes]
rs73931512	1.00[AMR][1000 genomes]
rs7507569	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv911642	chr19:36620778-36651499	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv911643	chr19:36627790-36651499	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv911644	chr19:36628463-36643695	Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv911645	chr19:36628463-36651499	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv911646	chr19:36629631-36643695	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv911647	chr19:36629631-36651499	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36632600-36641800	Strong transcription	Fetal Thymus	thymus
2	chr19:36632800-36636800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr19:36632800-36638400	Strong transcription	K562	blood
4	chr19:36632800-36641000	Strong transcription	Fetal Lung	lung
5	chr19:36632800-36641000	Weak transcription	Right Atrium	heart
6	chr19:36632800-36641200	Strong transcription	Muscle Satellite Cultured Cells	--
7	chr19:36632800-36641400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr19:36632800-36641400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr19:36632800-36641600	Strong transcription	NHLF	lung
10	chr19:36632800-36642000	Strong transcription	Fetal Intestine Small	intestine
11	chr19:36632800-36642200	Strong transcription	Brain Substantia Nigra	brain
12	chr19:36632800-36643000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr19:36632800-36644400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:36632800-36645600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr19:36633000-36637200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr19:36633000-36637400	Strong transcription	Fetal Stomach	stomach
17	chr19:36633000-36638200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr19:36633000-36638200	Strong transcription	GM12878-XiMat	blood
19	chr19:36633000-36638800	Strong transcription	NHEK	skin
20	chr19:36633000-36639800	Strong transcription	Skeletal Muscle Male	skeletal muscle
21	chr19:36633000-36640600	Strong transcription	Fetal Muscle Trunk	muscle
22	chr19:36633000-36640800	Strong transcription	Placenta	Placenta
23	chr19:36633000-36640800	Strong transcription	HSMM	muscle
24	chr19:36633000-36641000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr19:36633000-36641000	Weak transcription	Fetal Heart	heart
26	chr19:36633000-36641600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:36633000-36641600	Strong transcription	Placenta Amnion	Placenta Amnion
28	chr19:36633000-36641800	Strong transcription	Adipose Nuclei	Adipose
29	chr19:36633000-36641800	Strong transcription	Brain Anterior Caudate	brain
30	chr19:36633000-36642200	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr19:36633000-36642200	Strong transcription	Fetal Intestine Large	intestine
32	chr19:36633000-36642200	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr19:36633000-36642200	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr19:36633000-36642400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr19:36633000-36642400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr19:36633000-36642400	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr19:36633000-36642400	Strong transcription	Dnd41	blood
38	chr19:36633000-36642600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr19:36633000-36642600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr19:36633000-36642600	Strong transcription	Duodenum Mucosa	Duodenum
41	chr19:36633000-36643000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr19:36633000-36643200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr19:36633000-36644800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr19:36633000-36645600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr19:36633000-36645600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr19:36633000-36645600	Strong transcription	A549	lung
47	chr19:36633200-36638400	Strong transcription	Ovary	ovary
48	chr19:36633200-36639400	Strong transcription	Primary T cells from cord blood	blood
49	chr19:36633200-36640600	Strong transcription	Aorta	Aorta
50	chr19:36633200-36640600	Strong transcription	Esophagus	oesophagus

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