Variant report

Variant	rs10423765
Chromosome Location	chr19:44256381-44256382
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:44255807-44260024	GM12878	blood:	n/a	n/a
2	FOXM1	chr19:44256125-44256747	GM12878	blood:	n/a	n/a
3	IKZF1	chr19:44256092-44256632	GM12878	blood:	n/a	n/a
4	BCLAF1	chr19:44256219-44256850	GM12878	blood:	n/a	n/a
5	FOS	chr19:44255564-44256392	MCF10A-Er-Src	breast:	n/a	n/a
6	WRNIP1	chr19:44256187-44256449	GM12878	blood:	n/a	n/a
7	ATF2	chr19:44255987-44256786	GM12878	blood:	n/a	n/a
8	RUNX3	chr19:44256001-44256883	GM12878	blood:	n/a	n/a
9	RUNX3	chr19:44256052-44256789	GM12878	blood:	n/a	n/a
10	POLR2A	chr19:44256053-44261176	GM12878	blood:	n/a	n/a
11	MTA3	chr19:44255634-44260079	GM12878	blood:	n/a	n/a
12	POLR2A	chr19:44256009-44260119	GM12892	blood:	n/a	n/a
13	NFIC	chr19:44255980-44256760	GM12878	blood:	n/a	n/a
14	BATF	chr19:44256057-44256393	GM12878	blood:	n/a	chr19:44256190-44256201
15	EBF1	chr19:44256229-44256639	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:44232849..44234425-chr19:44254613..44257438,2	MCF-7	breast:
2	chr19:44256245..44259869-chr19:44284477..44291035,7	MCF-7	breast:
3	chr19:44248983..44251910-chr19:44255383..44257276,2	MCF-7	breast:
4	chr19:44172603..44174507-chr19:44254517..44257271,2	K562	blood:
5	chr19:44172674..44174816-chr19:44255771..44260668,7	K562	blood:

No data

Variant related genes	Relation type
SMG9	TF binding region
ENSG00000104783	Chromatin interaction
ENSG00000105771	Chromatin interaction
ENSG00000011422	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10404922	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10416580	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10418355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10426756	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28483837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28544228	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4803656	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59204851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59800457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61676505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565079	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44229400-44258000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr19:44231400-44256400	Strong transcription	Fetal Stomach	stomach
3	chr19:44232000-44256600	Strong transcription	Brain Cingulate Gyrus	brain
4	chr19:44232200-44256600	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr19:44232200-44256600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr19:44232200-44256600	Strong transcription	Fetal Lung	lung
7	chr19:44232200-44257200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:44232400-44257000	Strong transcription	Primary T cells from cord blood	blood
9	chr19:44232800-44256400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr19:44232800-44256400	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr19:44237000-44256400	Strong transcription	Brain Hippocampus Middle	brain
12	chr19:44237200-44256600	Strong transcription	Fetal Muscle Trunk	muscle
13	chr19:44237800-44257200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr19:44240200-44256400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr19:44240200-44256400	Strong transcription	Brain Inferior Temporal Lobe	brain
16	chr19:44240200-44256600	Strong transcription	Brain Germinal Matrix	brain
17	chr19:44240200-44256600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr19:44243800-44257600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr19:44244200-44256400	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr19:44244800-44256400	Strong transcription	Fetal Intestine Small	intestine
21	chr19:44245000-44256800	Strong transcription	Fetal Intestine Large	intestine
22	chr19:44245800-44258000	Weak transcription	Fetal Heart	heart
23	chr19:44245800-44258000	Weak transcription	Right Atrium	heart
24	chr19:44249200-44256400	Strong transcription	Adipose Nuclei	Adipose
25	chr19:44249600-44256400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr19:44249600-44257200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr19:44249600-44257800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr19:44249800-44256600	Strong transcription	Primary hematopoietic stem cells	blood
29	chr19:44249800-44258200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr19:44250200-44256600	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr19:44250200-44256800	Strong transcription	Liver	Liver
32	chr19:44251000-44256400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr19:44252400-44257200	Weak transcription	Psoas Muscle	Psoas
34	chr19:44252800-44256400	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr19:44252800-44258000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr19:44252800-44258200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr19:44253000-44256400	Strong transcription	Brain Anterior Caudate	brain
38	chr19:44254400-44258000	Weak transcription	Fetal Kidney	kidney
39	chr19:44254600-44256600	Weak transcription	Small Intestine	intestine
40	chr19:44254800-44256600	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr19:44254800-44256800	Weak transcription	Fetal Brain Male	brain
42	chr19:44254800-44258200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:44255000-44256800	Weak transcription	Left Ventricle	heart
44	chr19:44255000-44257000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr19:44255000-44257200	Weak transcription	Colonic Mucosa	Colon
46	chr19:44255000-44257600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr19:44255000-44257600	Weak transcription	Right Ventricle	heart
48	chr19:44255000-44257800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr19:44255000-44258200	Weak transcription	Ovary	ovary
50	chr19:44255200-44256800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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