Variant report

Variant	rs562480
Chromosome Location	chr19:37355963-37355964
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10402227	1.00[EUR][1000 genomes]
rs10403877	1.00[EUR][1000 genomes]
rs10410788	1.00[EUR][1000 genomes]
rs10419685	1.00[EUR][1000 genomes]
rs10424415	1.00[EUR][1000 genomes]
rs10426077	1.00[EUR][1000 genomes]
rs10426229	1.00[EUR][1000 genomes]
rs11878527	1.00[EUR][1000 genomes]
rs12459546	1.00[EUR][1000 genomes]
rs2080821	1.00[EUR][1000 genomes]
rs2309220	0.81[EUR][1000 genomes]
rs485256	0.86[YRI][hapmap];0.85[AFR][1000 genomes]
rs487318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs491951	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs500244	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs500370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs504572	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs510834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs519455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs526426	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs529944	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs535477	0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs547831	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56286503	1.00[EUR][1000 genomes]
rs56838197	1.00[EUR][1000 genomes]
rs57904468	1.00[EUR][1000 genomes]
rs579731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59122318	1.00[EUR][1000 genomes]
rs7252518	0.81[EUR][1000 genomes]
rs7254717	0.81[EUR][1000 genomes]
rs73612926	0.81[EUR][1000 genomes]
rs73626751	1.00[EUR][1000 genomes]
rs73930869	1.00[EUR][1000 genomes]
rs826272	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9304876	1.00[EUR][1000 genomes]
rs9304877	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv817833	chr19:37146694-37357289	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	esv3517005	chr19:37193712-37364110	Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	esv3517004	chr19:37193762-37363960	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	esv3517006	chr19:37193762-37363960	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv521605	chr19:37261810-37483444	ZNF genes & repeats Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS 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	27 gene(s)	inside rSNPs	diseases
11	nsv1060155	chr19:37274915-37458788	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv544000	chr19:37274915-37458788	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
16	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
17	nsv911651	chr19:37300554-37428465	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
18	esv3354270	chr19:37309161-37364929	Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
19	nsv458568	chr19:37325826-37747108	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
20	nsv579461	chr19:37325826-37747108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
21	nsv458569	chr19:37331614-37412887	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
22	nsv579462	chr19:37331614-37412887	Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37342800-37356800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:37343400-37356000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr19:37343600-37358600	ZNF genes & repeats	Brain Germinal Matrix	brain
4	chr19:37343600-37359000	ZNF genes & repeats	Fetal Lung	lung
5	chr19:37344400-37356000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
6	chr19:37344400-37369400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:37344400-37371600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr19:37344400-37406400	ZNF genes & repeats	Liver	Liver
9	chr19:37344600-37371600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
10	chr19:37345000-37356000	ZNF genes & repeats	Fetal Intestine Large	intestine
11	chr19:37346400-37356200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
12	chr19:37346400-37404600	ZNF genes & repeats	Adipose Nuclei	Adipose
13	chr19:37346600-37372400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
14	chr19:37348800-37356200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
15	chr19:37348800-37372000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
16	chr19:37350600-37357400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr19:37350800-37356200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
18	chr19:37351000-37356200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
19	chr19:37351400-37356200	ZNF genes & repeats	Fetal Muscle Leg	muscle
20	chr19:37351400-37356800	ZNF genes & repeats	Colon Smooth Muscle	Colon
21	chr19:37352000-37356200	ZNF genes & repeats	Small Intestine	intestine
22	chr19:37352000-37356400	ZNF genes & repeats	Aorta	Aorta
23	chr19:37352000-37356800	ZNF genes & repeats	Ovary	ovary
24	chr19:37352600-37356000	ZNF genes & repeats	Thymus	Thymus
25	chr19:37353000-37356000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
26	chr19:37353000-37356200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
27	chr19:37353200-37356600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr19:37353200-37356800	ZNF genes & repeats	Brain Hippocampus Middle	brain
29	chr19:37353200-37358200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr19:37353400-37356000	ZNF genes & repeats	Fetal Brain Male	brain
31	chr19:37353400-37356200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
32	chr19:37353400-37356600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr19:37353400-37405000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr19:37353600-37356000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
35	chr19:37353600-37356000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr19:37353600-37356000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr19:37353600-37356000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
38	chr19:37353600-37356200	ZNF genes & repeats	Primary B cells from cord blood	blood
39	chr19:37353600-37356200	ZNF genes & repeats	Primary T cells from cord blood	blood
40	chr19:37353600-37356200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
41	chr19:37353600-37356200	ZNF genes & repeats	Left Ventricle	heart
42	chr19:37353600-37356800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr19:37353600-37356800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
44	chr19:37353600-37356800	ZNF genes & repeats	Stomach Smooth Muscle	stomach
45	chr19:37353600-37357800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr19:37353600-37358400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
47	chr19:37353600-37358400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr19:37353600-37371200	ZNF genes & repeats	Fetal Brain Female	brain
49	chr19:37353800-37356000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
50	chr19:37353800-37356000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--

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