Variant report

Variant	rs3760924
Chromosome Location	chr19:40327312-40327313
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:40327151-40327719	K562	blood:	n/a	n/a
2	POLR2A	chr19:40306432-40338982	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr19:40327195-40327606	K562	blood:	n/a	n/a
4	CTCF	chr19:40327131-40327340	T-47D	breast:	n/a	n/a
5	POLR2A	chr19:40327204-40327744	GM12892	blood:	n/a	n/a
6	POLR2A	chr19:40327252-40327355	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:40324934..40327706-chr19:40474760..40476442,2	K562	blood:
2	chr19:40323873..40328898-chr19:40330848..40333267,4	MCF-7	breast:
3	chr19:40323895..40326074-chr19:40326895..40329517,2	MCF-7	breast:
4	chr19:40326700..40328345-chr19:40335181..40337020,2	MCF-7	breast:

No data

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

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1003947	0.95[ASN][1000 genomes]
rs1003948	0.95[ASN][1000 genomes]
rs10048489	1.00[CHB][hapmap]
rs1017078	0.95[ASN][1000 genomes]
rs1017079	0.95[ASN][1000 genomes]
rs11083539	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12972005	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12972396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12972914	1.00[CHB][hapmap];0.90[CHD][hapmap]
rs12973182	0.95[ASN][1000 genomes]
rs12975231	0.87[AFR][1000 genomes];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	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12984263	0.92[ASN][1000 genomes]
rs12984432	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12984824	0.95[ASN][1000 genomes]
rs12986238	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2110230	1.00[CHB][hapmap];0.82[CHD][hapmap]
rs34308963	0.95[ASN][1000 genomes]
rs35390382	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35488251	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35853287	0.95[ASN][1000 genomes]
rs35876606	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3810384	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3810385	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3944083	0.95[ASN][1000 genomes]
rs649908	1.00[ASW][hapmap];0.80[CEU][hapmap];0.94[TSI][hapmap]
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[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];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	chr19:40324800-40327400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:40324800-40336000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr19:40325200-40330400	Strong transcription	HSMMtube	muscle
5	chr19:40325200-40330400	Strong transcription	NH-A	brain
6	chr19:40325200-40330600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr19:40325200-40331800	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr19:40325200-40331800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr19:40325200-40332200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:40325200-40332600	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr19:40325200-40332600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr19:40325200-40333000	Weak transcription	Right Atrium	heart
13	chr19:40325400-40327600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr19:40325400-40329000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr19:40325400-40329000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr19:40325400-40329400	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr19:40325400-40329600	Strong transcription	Esophagus	oesophagus
18	chr19:40325400-40330400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr19:40325400-40330400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr19:40325400-40330400	Strong transcription	HSMM	muscle
21	chr19:40325400-40330600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr19:40325400-40330600	Strong transcription	Muscle Satellite Cultured Cells	--
23	chr19:40325400-40330800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr19:40325400-40330800	Strong transcription	Liver	Liver
25	chr19:40325400-40331000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr19:40325400-40331000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr19:40325400-40331000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr19:40325400-40331000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr19:40325400-40331000	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr19:40325400-40331000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr19:40325400-40331000	Strong transcription	Brain Anterior Caudate	brain
32	chr19:40325400-40331000	Strong transcription	Placenta	Placenta
33	chr19:40325400-40331000	Strong transcription	Rectal Smooth Muscle	rectum
34	chr19:40325400-40331000	Strong transcription	Stomach Smooth Muscle	stomach
35	chr19:40325400-40331000	Strong transcription	HUVEC	blood vessel
36	chr19:40325400-40331000	Strong transcription	Osteobl	bone
37	chr19:40325400-40331200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr19:40325400-40331200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr19:40325400-40331200	Strong transcription	Brain Germinal Matrix	brain
40	chr19:40325400-40331200	Strong transcription	Lung	lung
41	chr19:40325400-40331200	Strong transcription	NHDF-Ad	bronchial
42	chr19:40325400-40331400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr19:40325400-40331400	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr19:40325400-40331400	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr19:40325400-40331400	Strong transcription	Spleen	Spleen
46	chr19:40325400-40331600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr19:40325400-40331600	Strong transcription	NHLF	lung
48	chr19:40325400-40331800	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr19:40325400-40331800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr19:40325400-40331800	Strong transcription	Pancreas	Pancrea

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