Variant report

Variant	rs619350
Chromosome Location	chr19:40329160-40329161
allele	C/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	chr19:40306432-40338982	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:40327506..40332289-chr19:40333216..40337866,9	MCF-7	breast:
2	chr19:39925068..39927999-chr19:40329043..40331985,2	K562	blood:
3	chr19:40323895..40326074-chr19:40326895..40329517,2	MCF-7	breast:
4	chr19:40323585..40327109-chr19:40328017..40332842,7	MCF-7	breast:

Variant related genes	Relation type
DYRK1B	TF binding region
FBL	TF binding region
ENSG00000105193	Chromatin interaction
ENSG00000105202	Chromatin interaction
ENSG00000196235	Chromatin interaction
ENSG00000105204	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10422280	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11880094	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11880956	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11883249	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12980289	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2072290	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2354800	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3810383	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3810386	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4803297	0.94[ASN][1000 genomes]
rs616650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62106867	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6508912	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6508913	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs718066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7246501	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7248926	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7253739	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7254914	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7258351	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3329492	chr19:40198535-40437035	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2758498	chr19:40227904-40521130	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv2758760	chr19:40227904-40521130	Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv428022	chr19:40227904-40521130	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv911696	chr19:40310497-40344648	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv9725	chr19:40315519-40412523	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv961217	chr19:40328338-40329937	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 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	chr19:40318000-40331800	Strong transcription	HepG2	liver
2	chr19:40324800-40336000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr19:40325200-40330400	Strong transcription	HSMMtube	muscle
4	chr19:40325200-40330400	Strong transcription	NH-A	brain
5	chr19:40325200-40330600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr19:40325200-40331800	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr19:40325200-40331800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr19:40325200-40332200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr19:40325200-40332600	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr19:40325200-40332600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr19:40325200-40333000	Weak transcription	Right Atrium	heart
12	chr19:40325400-40329400	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr19:40325400-40329600	Strong transcription	Esophagus	oesophagus
14	chr19:40325400-40330400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr19:40325400-40330400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr19:40325400-40330400	Strong transcription	HSMM	muscle
17	chr19:40325400-40330600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr19:40325400-40330600	Strong transcription	Muscle Satellite Cultured Cells	--
19	chr19:40325400-40330800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr19:40325400-40330800	Strong transcription	Liver	Liver
21	chr19:40325400-40331000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr19:40325400-40331000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr19:40325400-40331000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr19:40325400-40331000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr19:40325400-40331000	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr19:40325400-40331000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr19:40325400-40331000	Strong transcription	Brain Anterior Caudate	brain
28	chr19:40325400-40331000	Strong transcription	Placenta	Placenta
29	chr19:40325400-40331000	Strong transcription	Rectal Smooth Muscle	rectum
30	chr19:40325400-40331000	Strong transcription	Stomach Smooth Muscle	stomach
31	chr19:40325400-40331000	Strong transcription	HUVEC	blood vessel
32	chr19:40325400-40331000	Strong transcription	Osteobl	bone
33	chr19:40325400-40331200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr19:40325400-40331200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr19:40325400-40331200	Strong transcription	Brain Germinal Matrix	brain
36	chr19:40325400-40331200	Strong transcription	Lung	lung
37	chr19:40325400-40331200	Strong transcription	NHDF-Ad	bronchial
38	chr19:40325400-40331400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr19:40325400-40331400	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr19:40325400-40331400	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr19:40325400-40331400	Strong transcription	Spleen	Spleen
42	chr19:40325400-40331600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr19:40325400-40331600	Strong transcription	NHLF	lung
44	chr19:40325400-40331800	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr19:40325400-40331800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr19:40325400-40331800	Strong transcription	Pancreas	Pancrea
47	chr19:40325400-40332000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr19:40325400-40332200	Strong transcription	H9 Cell Line	embryonic stem cell
49	chr19:40325400-40332200	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr19:40325400-40332200	Strong transcription	NHEK	skin

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