Variant report

Variant	rs28591400
Chromosome Location	chr19:44537586-44537587
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44533100..44535646-chr19:44537417..44539730,2	K562	blood:
2	chr19:44528545..44530793-chr19:44535583..44538948,4	K562	blood:
3	chr19:44528707..44530793-chr19:44537419..44538948,2	K562	blood:
4	chr19:44532064..44534600-chr19:44536249..44538917,3	K562	blood:
5	chr19:44535729..44539292-chr19:44539752..44542558,4	K562	blood:

Variant related genes	Relation type
ENSG00000159885	Chromatin interaction
ENSG00000267144	Chromatin interaction
ENSG00000267022	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10164312	1.00[EUR][1000 genomes]
rs10164320	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	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10416649	1.00[EUR][1000 genomes]
rs10420015	1.00[EUR][1000 genomes]
rs11878317	1.00[EUR][1000 genomes]
rs11878320	1.00[EUR][1000 genomes]
rs11879265	1.00[EUR][1000 genomes]
rs11879733	1.00[EUR][1000 genomes]
rs11880330	1.00[EUR][1000 genomes]
rs11880794	1.00[EUR][1000 genomes]
rs11880826	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11881355	1.00[EUR][1000 genomes]
rs11882281	1.00[EUR][1000 genomes]
rs11883048	1.00[EUR][1000 genomes]
rs11883052	1.00[EUR][1000 genomes]
rs12983129	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]
rs34863330	1.00[EUR][1000 genomes]
rs55852649	1.00[EUR][1000 genomes]
rs57614626	1.00[EUR][1000 genomes]
rs57796743	1.00[EUR][1000 genomes]
rs57956437	1.00[EUR][1000 genomes]
rs58056761	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	1.00[EUR][1000 genomes]
rs60833312	1.00[EUR][1000 genomes]
rs61233555	1.00[EUR][1000 genomes]
rs7251592	1.00[ASN][1000 genomes]
rs7253031	1.00[EUR][1000 genomes]
rs7254182	1.00[EUR][1000 genomes]
rs7256304	1.00[EUR][1000 genomes]
rs73554168	1.00[EUR][1000 genomes]
rs73556256	1.00[EUR][1000 genomes]
rs73556274	1.00[EUR][1000 genomes]
rs73556277	1.00[EUR][1000 genomes]
rs73556279	1.00[EUR][1000 genomes]
rs73556299	1.00[EUR][1000 genomes]
rs73558203	1.00[EUR][1000 genomes]
rs73558209	1.00[EUR][1000 genomes]
rs73558211	1.00[EUR][1000 genomes]
rs73558215	1.00[EUR][1000 genomes]
rs73558217	1.00[EUR][1000 genomes]
rs73558221	1.00[EUR][1000 genomes]
rs73558222	1.00[EUR][1000 genomes]
rs73558227	1.00[EUR][1000 genomes]
rs73558248	1.00[EUR][1000 genomes]
rs73558256	1.00[EUR][1000 genomes]
rs73558264	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	1.00[EUR][1000 genomes]
rs8100906	1.00[EUR][1000 genomes]
rs8100990	1.00[EUR][1000 genomes]
rs8101607	1.00[EUR][1000 genomes]
rs8102859	1.00[EUR][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	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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44530800-44539200	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
2	chr19:44530800-44539600	ZNF genes & repeats	Fetal Brain Female	brain
3	chr19:44530800-44542600	ZNF genes & repeats	Liver	Liver
4	chr19:44531000-44538000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
5	chr19:44531000-44538200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
6	chr19:44531000-44538200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:44531000-44538400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr19:44531000-44539400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr19:44531000-44540000	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr19:44531200-44537600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
11	chr19:44532200-44538800	ZNF genes & repeats	Brain Substantia Nigra	brain
12	chr19:44532200-44539800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
13	chr19:44532400-44537600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
14	chr19:44532800-44538000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr19:44533200-44537800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
16	chr19:44533400-44538000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr19:44533600-44539200	Weak transcription	HepG2	liver
18	chr19:44533800-44537800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr19:44533800-44538200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr19:44534400-44539400	ZNF genes & repeats	Brain Germinal Matrix	brain
21	chr19:44534600-44539400	ZNF genes & repeats	Brain Hippocampus Middle	brain
22	chr19:44534800-44538400	ZNF genes & repeats	Left Ventricle	heart
23	chr19:44536200-44537600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
24	chr19:44536800-44540400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr19:44537000-44538000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr19:44537000-44540200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr19:44537400-44539000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin

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