Variant report

Variant	rs57796743
Chromosome Location	chr19:44569460-44569461
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44568849..44570998-chr19:44573631..44576301,2	K562	blood:
2	chr19:44555194..44558288-chr19:44566078..44569584,3	MCF-7	breast:
3	chr19:44562856..44565736-chr19:44566187..44569653,3	K562	blood:

Variant related genes	Relation type
ENSG00000178386	Chromatin interaction
ENSG00000186026	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10164312	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10164320	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10401773	1.00[EUR][1000 genomes]
rs10404050	1.00[EUR][1000 genomes]
rs10404791	1.00[EUR][1000 genomes]
rs10404999	1.00[EUR][1000 genomes]
rs10405366	1.00[EUR][1000 genomes]
rs10409400	1.00[EUR][1000 genomes]
rs10409475	1.00[EUR][1000 genomes]
rs10415885	1.00[EUR][1000 genomes]
rs10416649	1.00[EUR][1000 genomes]
rs10420015	1.00[EUR][1000 genomes]
rs11878317	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11878320	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11879265	1.00[EUR][1000 genomes]
rs11879733	1.00[EUR][1000 genomes]
rs11880330	1.00[EUR][1000 genomes]
rs11880794	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11880826	1.00[EUR][1000 genomes]
rs11881355	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11882281	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11883048	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11883052	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11883398	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12983129	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13343401	1.00[EUR][1000 genomes]
rs13345060	1.00[EUR][1000 genomes]
rs13345516	1.00[EUR][1000 genomes]
rs16976891	1.00[EUR][1000 genomes]
rs16976894	1.00[EUR][1000 genomes]
rs28591400	1.00[EUR][1000 genomes]
rs34863330	1.00[EUR][1000 genomes]
rs55852649	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57614626	1.00[EUR][1000 genomes]
rs57956437	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58056761	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58271953	1.00[EUR][1000 genomes]
rs58935748	1.00[EUR][1000 genomes]
rs59205113	1.00[EUR][1000 genomes]
rs59926292	1.00[EUR][1000 genomes]
rs60064087	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60833312	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61233555	1.00[EUR][1000 genomes]
rs7253031	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7254182	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7256304	1.00[EUR][1000 genomes]
rs73554168	1.00[EUR][1000 genomes]
rs73556256	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73556274	1.00[EUR][1000 genomes]
rs73556277	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73556279	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73556299	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558203	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558209	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558211	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558212	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73558215	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558217	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558221	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558222	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558227	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558248	1.00[EUR][1000 genomes]
rs73558256	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558264	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558286	1.00[EUR][1000 genomes]
rs73558298	1.00[EUR][1000 genomes]
rs73558301	1.00[EUR][1000 genomes]
rs73562181	1.00[EUR][1000 genomes]
rs73562184	1.00[EUR][1000 genomes]
rs73562187	1.00[EUR][1000 genomes]
rs73562192	1.00[EUR][1000 genomes]
rs73562196	1.00[EUR][1000 genomes]
rs73564015	1.00[EUR][1000 genomes]
rs73932846	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8100906	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8100990	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8101607	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8102859	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833840	chr19:44520620-44715760	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44557000-44570200	Weak transcription	HUVEC	blood vessel
2	chr19:44557000-44570200	Weak transcription	NHDF-Ad	bronchial
3	chr19:44557000-44575600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr19:44557400-44570000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr19:44557400-44570200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr19:44558200-44571800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:44558200-44573200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr19:44558200-44575600	ZNF genes & repeats	Liver	Liver
9	chr19:44558800-44572800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
10	chr19:44559400-44570000	Weak transcription	Stomach Mucosa	stomach
11	chr19:44560800-44570000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:44561200-44569600	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr19:44561400-44570000	Strong transcription	Brain Hippocampus Middle	brain
14	chr19:44561600-44569600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr19:44561800-44569600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr19:44561800-44569600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr19:44561800-44569600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr19:44561800-44569600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr19:44561800-44570000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr19:44561800-44570400	Strong transcription	Right Ventricle	heart
21	chr19:44561800-44572000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr19:44561800-44572600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
23	chr19:44562000-44569800	Strong transcription	Brain Germinal Matrix	brain
24	chr19:44562600-44570800	Strong transcription	Placenta Amnion	Placenta Amnion
25	chr19:44563600-44572200	ZNF genes & repeats	Adipose Nuclei	Adipose
26	chr19:44563800-44570000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr19:44564800-44570200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr19:44565600-44572200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
29	chr19:44565600-44572200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
30	chr19:44566000-44570200	Weak transcription	HepG2	liver
31	chr19:44566600-44572200	ZNF genes & repeats	Colon Smooth Muscle	Colon
32	chr19:44566800-44572000	ZNF genes & repeats	Colonic Mucosa	Colon
33	chr19:44566800-44572000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
34	chr19:44566800-44572200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
35	chr19:44567200-44571800	ZNF genes & repeats	Aorta	Aorta
36	chr19:44567200-44572000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr19:44567400-44569600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr19:44567400-44571000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
39	chr19:44567400-44571400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr19:44567400-44573000	ZNF genes & repeats	Fetal Lung	lung
41	chr19:44567600-44569600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr19:44567600-44571400	ZNF genes & repeats	Small Intestine	intestine
43	chr19:44567800-44569600	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr19:44567800-44569800	Strong transcription	Left Ventricle	heart
45	chr19:44567800-44570000	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr19:44567800-44570200	Weak transcription	NHEK	skin
47	chr19:44567800-44572600	ZNF genes & repeats	Stomach Smooth Muscle	stomach
48	chr19:44568000-44569800	Weak transcription	Esophagus	oesophagus
49	chr19:44568000-44569800	Weak transcription	Gastric	stomach
50	chr19:44568000-44569800	Weak transcription	Lung	lung

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