Variant report

Variant	rs73565079
Chromosome Location	chr19:44262845-44262846
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	chr19:44256760..44265122-chr19:44281375..44290996,18	K562	blood:

Variant related genes	Relation type
ENSG00000104783	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10418355	0.81[AFR][1000 genomes]
rs10423765	0.81[AFR][1000 genomes]
rs28483837	0.81[AFR][1000 genomes]
rs59204851	0.81[AFR][1000 genomes]
rs59800457	0.81[AFR][1000 genomes]
rs61676505	0.81[AFR][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	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv833839	chr19:44099813-44272299	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44259600-44267800	Weak transcription	Spleen	Spleen
2	chr19:44259800-44263400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:44259800-44263600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr19:44259800-44263600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr19:44259800-44267800	Weak transcription	Esophagus	oesophagus
6	chr19:44259800-44269200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr19:44259800-44272400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:44259800-44272400	Weak transcription	Gastric	stomach
9	chr19:44259800-44278400	Weak transcription	Right Atrium	heart
10	chr19:44260000-44263400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr19:44260000-44263400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr19:44260000-44264000	Enhancers	HSMM	muscle
13	chr19:44260000-44264400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr19:44260000-44265600	Enhancers	HMEC	breast
15	chr19:44260000-44266000	Enhancers	Osteobl	bone
16	chr19:44260000-44267600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr19:44260200-44263400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:44260200-44263400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr19:44260200-44263400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr19:44260200-44263400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr19:44260200-44263400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr19:44260200-44263800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr19:44260200-44264000	Enhancers	Primary B cells from peripheral blood	blood
24	chr19:44260200-44264000	Enhancers	Placenta	Placenta
25	chr19:44260200-44264200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr19:44260200-44264200	Enhancers	NHLF	lung
27	chr19:44260200-44267600	Weak transcription	Fetal Muscle Leg	muscle
28	chr19:44260200-44268000	Weak transcription	Brain Substantia Nigra	brain
29	chr19:44260200-44268000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr19:44260200-44269200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr19:44260200-44270400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr19:44260200-44270400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr19:44260200-44270400	Weak transcription	Fetal Intestine Small	intestine
34	chr19:44260200-44270800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr19:44260200-44270800	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr19:44260400-44263600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr19:44260400-44264200	Enhancers	NHDF-Ad	bronchial
38	chr19:44260400-44265600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr19:44260400-44267000	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr19:44260600-44263200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr19:44260600-44263200	Weak transcription	HepG2	liver
42	chr19:44260600-44264000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr19:44260600-44264400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr19:44260600-44267000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr19:44260600-44267800	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr19:44260800-44263400	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr19:44260800-44264000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr19:44260800-44267000	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr19:44260800-44267600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr19:44260800-44267800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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