Variant report

Variant	rs10418493
Chromosome Location	chr19:42740056-42740057
allele	A/G
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	POLR2A	chr19:42739922-42740630	A549	lung:	n/a	n/a
2	POLR2A	chr19:42739171-42740792	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr19:42739941-42740276	K562	blood:	n/a	n/a
4	POLR2A	chr19:42739287-42740066	HL-60	blood:	n/a	n/a
5	POLR2A	chr19:42740010-42740437	GM12891	blood:	n/a	n/a
6	POLR2A	chr19:42739227-42741345	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr19:42739985-42740600	A549	lung:	n/a	n/a
8	POLR2A	chr19:42732840-42741292	K562	blood:	n/a	n/a
9	POLR2A	chr19:42740056-42740110	MCF-7	breast:	n/a	n/a
10	POLR2A	chr19:42739803-42740097	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr19:42739885-42740585	HepG2	liver:	n/a	n/a
12	POLR2A	chr19:42739329-42741220	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr19:42739252-42740851	K562	blood:	n/a	n/a
14	POLR2A	chr19:42739869-42741325	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42737731..42740476-chr19:42828314..42830079,2	MCF-7	breast:
2	chr19:42722405..42725200-chr19:42739571..42741128,2	MCF-7	breast:

Variant related genes	Relation type
GSK3A	TF binding region
ENSG00000105429	Chromatin interaction
ENSG00000160570	Chromatin interaction
ENSG00000167625	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10403246	1.00[AMR][1000 genomes]
rs10406755	1.00[AMR][1000 genomes]
rs10408141	1.00[AMR][1000 genomes]
rs10412954	1.00[AMR][1000 genomes]
rs10414056	1.00[AMR][1000 genomes]
rs10415478	1.00[AMR][1000 genomes]
rs10416241	1.00[AMR][1000 genomes]
rs10419013	1.00[AMR][1000 genomes]
rs10421026	1.00[AMR][1000 genomes]
rs10425883	1.00[AMR][1000 genomes]
rs13345986	1.00[AMR][1000 genomes]
rs28532592	1.00[AMR][1000 genomes]
rs35620536	1.00[AMR][1000 genomes]
rs6509012	1.00[AMR][1000 genomes]
rs73552850	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
5	esv1794508	chr19:42580026-42791462	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	nsv1055554	chr19:42619671-42821642	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
7	nsv833833	chr19:42657276-42783122	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
8	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
9	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
10	nsv833834	chr19:42736444-42835027	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42725000-42747000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:42725400-42745200	Weak transcription	Fetal Brain Male	brain
3	chr19:42725600-42744000	Weak transcription	Right Atrium	heart
4	chr19:42725600-42745000	Weak transcription	Fetal Heart	heart
5	chr19:42726400-42741600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr19:42726600-42741400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr19:42726800-42741200	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr19:42726800-42744000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr19:42726800-42745000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:42727000-42745000	Weak transcription	Hela-S3	cervix
11	chr19:42728200-42741400	Strong transcription	Fetal Lung	lung
12	chr19:42728200-42744000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr19:42728400-42741000	Strong transcription	HUVEC	blood vessel
14	chr19:42728400-42741200	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr19:42728400-42741200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr19:42728400-42741200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr19:42728400-42741200	Strong transcription	Liver	Liver
18	chr19:42728400-42741200	Strong transcription	Duodenum Smooth Muscle	Duodenum
19	chr19:42728400-42741200	Strong transcription	Fetal Brain Female	brain
20	chr19:42728400-42741200	Strong transcription	Left Ventricle	heart
21	chr19:42728400-42741200	Strong transcription	Lung	lung
22	chr19:42728400-42741200	Strong transcription	Rectal Smooth Muscle	rectum
23	chr19:42728400-42741400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr19:42728400-42741400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr19:42728400-42741400	Strong transcription	Brain Germinal Matrix	brain
26	chr19:42728400-42741400	Strong transcription	Placenta Amnion	Placenta Amnion
27	chr19:42728400-42741600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr19:42728400-42741800	Strong transcription	Primary T cells from cord blood	blood
29	chr19:42728400-42741800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr19:42728400-42742000	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr19:42728400-42743200	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr19:42728400-42743600	Strong transcription	Dnd41	blood
33	chr19:42728400-42744800	Strong transcription	Fetal Thymus	thymus
34	chr19:42728600-42741400	Strong transcription	Primary B cells from cord blood	blood
35	chr19:42728600-42741600	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr19:42728600-42744400	Strong transcription	Primary B cells from peripheral blood	blood
37	chr19:42730600-42740800	Strong transcription	HSMM	muscle
38	chr19:42731200-42741200	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr19:42731200-42741400	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr19:42731400-42741200	Strong transcription	NH-A	brain
41	chr19:42731400-42741400	Strong transcription	Osteobl	bone
42	chr19:42731400-42741600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr19:42731400-42744600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr19:42731600-42744000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr19:42732000-42741400	Strong transcription	NHEK	skin
46	chr19:42732200-42743200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr19:42732600-42741200	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr19:42733000-42741000	Strong transcription	Aorta	Aorta
49	chr19:42733000-42741200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
50	chr19:42733000-42741400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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