Variant report

Variant	rs55736013
Chromosome Location	chr19:44437476-44437477
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	chr19:44435828..44438682-chr19:44451938..44454086,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10853770	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11880216	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11881642	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11882181	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55810332	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58050657	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62116589	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8100011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8100682	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469650	chr19:44405994-44555426	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv579854	chr19:44411543-44490024	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44419400-44438600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:44420000-44437800	Strong transcription	HSMM	muscle
3	chr19:44420400-44438600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:44420600-44437600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr19:44420800-44437600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr19:44421000-44438200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr19:44421000-44438200	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr19:44421400-44437600	Strong transcription	Brain Substantia Nigra	brain
9	chr19:44424000-44438600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr19:44424400-44437600	Strong transcription	Fetal Muscle Leg	muscle
11	chr19:44425400-44437600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr19:44426200-44437600	Strong transcription	Fetal Stomach	stomach
13	chr19:44426600-44437600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr19:44426600-44438200	Strong transcription	Skeletal Muscle Female	skeletal muscle
15	chr19:44429400-44438200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:44429600-44437800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr19:44429600-44438200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr19:44429600-44438200	Weak transcription	HepG2	liver
19	chr19:44429800-44438200	Weak transcription	Hela-S3	cervix
20	chr19:44430200-44437800	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr19:44433600-44437600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr19:44433800-44438200	Weak transcription	Fetal Heart	heart
23	chr19:44434000-44438200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr19:44434400-44438600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:44434600-44438000	Weak transcription	K562	blood
26	chr19:44434800-44438200	Weak transcription	Stomach Mucosa	stomach
27	chr19:44434800-44438400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr19:44434800-44438400	Weak transcription	Pancreas	Pancrea
29	chr19:44434800-44438400	Weak transcription	Right Ventricle	heart
30	chr19:44434800-44438400	Weak transcription	Spleen	Spleen
31	chr19:44435000-44438000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr19:44435000-44438200	Weak transcription	Small Intestine	intestine
33	chr19:44435200-44438200	Weak transcription	Colonic Mucosa	Colon
34	chr19:44435600-44438600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr19:44436200-44438200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr19:44436200-44438200	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr19:44436200-44438200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr19:44436200-44438600	Weak transcription	Esophagus	oesophagus
39	chr19:44436400-44438600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr19:44436600-44438000	Weak transcription	Fetal Intestine Small	intestine
41	chr19:44436800-44438000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr19:44436800-44438000	Weak transcription	NHLF	lung
43	chr19:44436800-44438200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr19:44436800-44438200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr19:44436800-44438200	Weak transcription	NH-A	brain
46	chr19:44436800-44438400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr19:44437000-44437600	Genic enhancers	Primary T cells fromperipheralblood	blood
48	chr19:44437000-44437600	Weak transcription	Adipose Nuclei	Adipose
49	chr19:44437000-44437600	Genic enhancers	Lung	lung
50	chr19:44437000-44437800	Genic enhancers	Dnd41	blood

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