Variant report

Variant	rs12972005
Chromosome Location	chr19:40326552-40326553
allele	C/T
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	chr19:40323585..40327109-chr19:40328017..40332842,7	MCF-7	breast:
2	chr19:40324934..40327706-chr19:40474760..40476442,2	K562	blood:
3	chr19:40323873..40328898-chr19:40330848..40333267,4	MCF-7	breast:

Variant related genes	Relation type
DYRK1B	TF binding region
ENSG00000105202	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1003947	0.95[ASN][1000 genomes]
rs1003948	0.95[ASN][1000 genomes]
rs1017078	0.95[ASN][1000 genomes]
rs1017079	0.95[ASN][1000 genomes]
rs11083539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12972396	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12973182	0.95[ASN][1000 genomes]
rs12975231	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12976359	0.95[ASN][1000 genomes]
rs12979465	0.87[ASN][1000 genomes]
rs12983225	0.87[ASN][1000 genomes]
rs12984263	0.92[ASN][1000 genomes]
rs12984432	1.00[ASN][1000 genomes]
rs12984824	0.95[ASN][1000 genomes]
rs12986238	0.82[ASN][1000 genomes]
rs34308963	0.95[ASN][1000 genomes]
rs35390382	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35488251	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35853287	0.95[ASN][1000 genomes]
rs35876606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3760924	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3810384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3810385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3944083	0.95[ASN][1000 genomes]
rs6508910	0.95[ASN][1000 genomes]
rs6508911	0.95[ASN][1000 genomes]
rs7251090	1.00[ASN][1000 genomes]
rs7251118	1.00[ASN][1000 genomes]
rs7252906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7258581	0.95[ASN][1000 genomes]
rs7258788	0.95[ASN][1000 genomes]
rs7258881	0.95[ASN][1000 genomes]
rs8102224	0.92[ASN][1000 genomes]
rs8102444	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8111434	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

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	chr19:40324800-40327000	Weak transcription	Aorta	Aorta
3	chr19:40324800-40327000	Weak transcription	Ovary	ovary
4	chr19:40324800-40327000	Weak transcription	Small Intestine	intestine
5	chr19:40324800-40327200	Weak transcription	Psoas Muscle	Psoas
6	chr19:40324800-40327400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr19:40324800-40336000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr19:40325200-40330400	Strong transcription	HSMMtube	muscle
9	chr19:40325200-40330400	Strong transcription	NH-A	brain
10	chr19:40325200-40330600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr19:40325200-40331800	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr19:40325200-40331800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr19:40325200-40332200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr19:40325200-40332600	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr19:40325200-40332600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr19:40325200-40333000	Weak transcription	Right Atrium	heart
17	chr19:40325400-40326600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr19:40325400-40326800	Weak transcription	Brain Substantia Nigra	brain
19	chr19:40325400-40327000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr19:40325400-40327000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr19:40325400-40327000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr19:40325400-40327000	Weak transcription	Colon Smooth Muscle	Colon
23	chr19:40325400-40327000	Weak transcription	Gastric	stomach
24	chr19:40325400-40327000	Weak transcription	Left Ventricle	heart
25	chr19:40325400-40327000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr19:40325400-40327600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr19:40325400-40329000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr19:40325400-40329000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr19:40325400-40329400	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr19:40325400-40329600	Strong transcription	Esophagus	oesophagus
31	chr19:40325400-40330400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr19:40325400-40330400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr19:40325400-40330400	Strong transcription	HSMM	muscle
34	chr19:40325400-40330600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr19:40325400-40330600	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr19:40325400-40330800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr19:40325400-40330800	Strong transcription	Liver	Liver
38	chr19:40325400-40331000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr19:40325400-40331000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr19:40325400-40331000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr19:40325400-40331000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr19:40325400-40331000	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr19:40325400-40331000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr19:40325400-40331000	Strong transcription	Brain Anterior Caudate	brain
45	chr19:40325400-40331000	Strong transcription	Placenta	Placenta
46	chr19:40325400-40331000	Strong transcription	Rectal Smooth Muscle	rectum
47	chr19:40325400-40331000	Strong transcription	Stomach Smooth Muscle	stomach
48	chr19:40325400-40331000	Strong transcription	HUVEC	blood vessel
49	chr19:40325400-40331000	Strong transcription	Osteobl	bone
50	chr19:40325400-40331200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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