Variant report

Variant	rs7254587
Chromosome Location	chr19:53648436-53648437
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10401780	1.00[EUR][1000 genomes]
rs10402388	1.00[EUR][1000 genomes]
rs10410619	1.00[EUR][1000 genomes]
rs10419621	1.00[EUR][1000 genomes]
rs10421203	1.00[EUR][1000 genomes]
rs10425706	1.00[EUR][1000 genomes]
rs11880606	1.00[EUR][1000 genomes]
rs11882069	1.00[EUR][1000 genomes]
rs11882631	1.00[EUR][1000 genomes]
rs11882663	1.00[EUR][1000 genomes]
rs11883147	1.00[EUR][1000 genomes]
rs11883264	1.00[EUR][1000 genomes]
rs12461438	1.00[EUR][1000 genomes]
rs12461512	1.00[EUR][1000 genomes]
rs1550578	1.00[EUR][1000 genomes]
rs1650933	1.00[EUR][1000 genomes]
rs16984370	1.00[EUR][1000 genomes]
rs16984442	1.00[EUR][1000 genomes]
rs16984466	1.00[EUR][1000 genomes]
rs16984581	1.00[EUR][1000 genomes]
rs16984609	1.00[EUR][1000 genomes]
rs28536702	1.00[EUR][1000 genomes]
rs28668048	1.00[EUR][1000 genomes]
rs28670871	1.00[EUR][1000 genomes]
rs57441999	1.00[EUR][1000 genomes]
rs57583034	1.00[EUR][1000 genomes]
rs61729686	1.00[EUR][1000 genomes]
rs7250967	1.00[EUR][1000 genomes]
rs73590735	1.00[EUR][1000 genomes]
rs73599481	1.00[EUR][1000 genomes]
rs73601420	1.00[EUR][1000 genomes]
rs73935207	1.00[EUR][1000 genomes]
rs8107544	1.00[EUR][1000 genomes]
rs8111611	1.00[EUR][1000 genomes]
rs8112055	1.00[EUR][1000 genomes]
rs8112251	1.00[EUR][1000 genomes]
rs8112491	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530807	chr19:53210488-53695881	Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	esv3326632	chr19:53371248-53697569	Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv2758506	chr19:53410459-53652575	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	esv2758769	chr19:53410459-53652575	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv428370	chr19:53410459-53652575	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv1065143	chr19:53507142-53853363	Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	nsv544063	chr19:53507142-53853363	ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv1058019	chr19:53507142-53904508	ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
9	nsv544064	chr19:53507142-53904508	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
10	nsv912342	chr19:53581151-54010759	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
11	nsv1063630	chr19:53591444-54419183	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	282 gene(s)	inside rSNPs	diseases
12	nsv1055378	chr19:53603268-53951855	Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
13	nsv544065	chr19:53603268-53951855	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
14	nsv912350	chr19:53636016-53687818	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53640000-53660600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
2	chr19:53640600-53655800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:53642000-53653600	ZNF genes & repeats	Liver	Liver
4	chr19:53642200-53654600	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr19:53642400-53653800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr19:53642400-53654000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr19:53642800-53648600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
8	chr19:53642800-53654600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr19:53642800-53655600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
10	chr19:53643000-53654600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
11	chr19:53643400-53652200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr19:53643400-53660400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:53643800-53654200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr19:53644200-53653800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
15	chr19:53644600-53654400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
16	chr19:53645400-53654600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
17	chr19:53645400-53655800	Strong transcription	Muscle Satellite Cultured Cells	--
18	chr19:53645800-53649000	Strong transcription	Brain Germinal Matrix	brain
19	chr19:53645800-53650000	Weak transcription	HUVEC	blood vessel
20	chr19:53645800-53651200	Strong transcription	Placenta Amnion	Placenta Amnion
21	chr19:53645800-53660800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr19:53646200-53648800	Weak transcription	Fetal Thymus	thymus
23	chr19:53646200-53649600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr19:53646200-53649600	Weak transcription	Right Ventricle	heart
25	chr19:53646200-53650600	Weak transcription	HSMMtube	muscle
26	chr19:53646800-53650200	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr19:53647000-53653000	ZNF genes & repeats	Colon Smooth Muscle	Colon
28	chr19:53647200-53650000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr19:53647200-53650600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr19:53647200-53651800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr19:53647200-53652600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr19:53647200-53653600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr19:53647200-53653600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
34	chr19:53647200-53653600	ZNF genes & repeats	Primary T cells from cord blood	blood
35	chr19:53647200-53653600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr19:53647200-53653600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
37	chr19:53647200-53653800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr19:53647200-53654000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr19:53647200-53654000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
40	chr19:53647200-53654200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
41	chr19:53647200-53654400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
42	chr19:53647200-53654600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
43	chr19:53647200-53654600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
44	chr19:53647200-53654600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
45	chr19:53647200-53654600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr19:53647200-53655200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
47	chr19:53647400-53648800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
48	chr19:53647400-53649000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
49	chr19:53647400-53649200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
50	chr19:53647400-53652000	ZNF genes & repeats	Brain Substantia Nigra	brain

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