Variant report

Variant	rs10404050
Chromosome Location	chr19:44618763-44618764
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr19:44618713-44619052	K562	blood:	n/a	chr19:44618979-44618990
2	CEBPB	chr19:44618690-44619080	IMR90	lung:	n/a	chr19:44618979-44618990

No.	Distal block	Cell Line	Cell type
1	chr19:44616201..44619073-chr19:44644939..44647380,2	MCF-7	breast:
2	chr19:44616455..44619109-chr19:44645010..44647245,2	K562	blood:
3	chr19:44506534..44508269-chr19:44616199..44620011,3	K562	blood:

Variant related genes	Relation type
ZNF225	TF binding region
ENSG00000186019	TF binding region
ENSG00000159882	Chromatin interaction
ENSG00000263002	Chromatin interaction
ENSG00000266921	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10164312	1.00[EUR][1000 genomes]
rs10164320	1.00[EUR][1000 genomes]
rs10401773	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	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]
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]
rs28591400	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]
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	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44615400-44618800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:44615600-44618800	Active TSS	H1 Cell Line	embryonic stem cell
3	chr19:44615600-44618800	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr19:44615600-44618800	Active TSS	NHLF	lung
5	chr19:44615800-44618800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:44615800-44618800	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr19:44615800-44618800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr19:44616000-44619000	Active TSS	Rectal Smooth Muscle	rectum
9	chr19:44616200-44618800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr19:44616400-44618800	Active TSS	Aorta	Aorta
11	chr19:44617800-44618800	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr19:44618000-44618800	Flanking Active TSS	Brain Germinal Matrix	brain
13	chr19:44618000-44618800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr19:44618200-44618800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:44618200-44618800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr19:44618200-44619000	Enhancers	Primary B cells from peripheral blood	blood
17	chr19:44618200-44619000	Flanking Active TSS	Dnd41	blood
18	chr19:44618200-44624400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr19:44618200-44635000	Weak transcription	Stomach Mucosa	stomach
20	chr19:44618400-44618800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr19:44618400-44618800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr19:44618400-44618800	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr19:44618400-44618800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr19:44618400-44618800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr19:44618400-44618800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr19:44618400-44618800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr19:44618400-44618800	Enhancers	Fetal Brain Male	brain
28	chr19:44618400-44618800	Flanking Active TSS	Fetal Lung	lung
29	chr19:44618400-44619000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr19:44618400-44619000	Enhancers	Primary T cells fromperipheralblood	blood
31	chr19:44618400-44619000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr19:44618400-44619000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr19:44618400-44619000	Enhancers	Fetal Heart	heart
34	chr19:44618400-44619000	Enhancers	Fetal Muscle Trunk	muscle
35	chr19:44618400-44619000	Enhancers	Left Ventricle	heart
36	chr19:44618400-44619000	Enhancers	Pancreas	Pancrea
37	chr19:44618400-44619000	Enhancers	Spleen	Spleen
38	chr19:44618400-44619800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr19:44618400-44619800	Weak transcription	Gastric	stomach
40	chr19:44618400-44619800	Weak transcription	Ovary	ovary
41	chr19:44618400-44619800	Weak transcription	Psoas Muscle	Psoas
42	chr19:44618400-44620000	Weak transcription	Lung	lung
43	chr19:44618400-44620200	Weak transcription	Right Ventricle	heart
44	chr19:44618400-44620200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr19:44618400-44620400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr19:44618400-44620400	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr19:44618400-44620400	Weak transcription	Fetal Intestine Large	intestine
48	chr19:44618400-44621400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr19:44618400-44621600	Weak transcription	Colonic Mucosa	Colon
50	chr19:44618400-44621600	Weak transcription	Placenta	Placenta

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