Variant report

Variant	rs555023
Chromosome Location	chr19:37369454-37369455
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37368925..37371871-chr19:37383138..37385642,2	MCF-7	breast:
2	chr19:37328191..37330014-chr19:37367737..37370320,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197863	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10403100	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10403306	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10403906	0.88[ASN][1000 genomes]
rs10409144	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10411509	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10418176	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10418453	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1423048	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34201634	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs477725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs477942	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs478272	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs486466	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs491898	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs493482	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs497144	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs502110	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs503956	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs503959	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs505896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs506463	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs542847	0.81[ASN][1000 genomes]
rs546693	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs553981	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs559008	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs560085	0.98[AFR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs566432	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs571074	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs577093	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs578699	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs579445	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs580168	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs581194	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7256044	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73611677	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs826276	0.95[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs826622	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	nsv523848	chr19:37357289-37487632	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
19	nsv819209	chr19:37369348-37370260	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37344400-37371600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:37344400-37406400	ZNF genes & repeats	Liver	Liver
3	chr19:37344600-37371600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
4	chr19:37346400-37404600	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr19:37346600-37372400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr19:37348800-37372000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
7	chr19:37353400-37405000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr19:37353600-37371200	ZNF genes & repeats	Fetal Brain Female	brain
9	chr19:37357800-37371600	ZNF genes & repeats	Brain Hippocampus Middle	brain
10	chr19:37358600-37370800	ZNF genes & repeats	Primary T cells from cord blood	blood
11	chr19:37359800-37371000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr19:37359800-37371600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
13	chr19:37360000-37371200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
14	chr19:37360000-37373000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr19:37360200-37370600	ZNF genes & repeats	Brain Anterior Caudate	brain
16	chr19:37360200-37371000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr19:37360200-37371200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
18	chr19:37360200-37372400	ZNF genes & repeats	Brain Substantia Nigra	brain
19	chr19:37360600-37371000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr19:37361400-37371400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
21	chr19:37361800-37371200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:37361800-37371200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
23	chr19:37362400-37371000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
24	chr19:37362600-37371000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
25	chr19:37362800-37371000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr19:37362800-37371600	ZNF genes & repeats	Brain Germinal Matrix	brain
27	chr19:37363000-37371600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
28	chr19:37363000-37372000	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
29	chr19:37363200-37369600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
30	chr19:37363200-37371600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
31	chr19:37364200-37371000	ZNF genes & repeats	Colon Smooth Muscle	Colon
32	chr19:37364400-37369800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
33	chr19:37364400-37371600	ZNF genes & repeats	Ovary	ovary
34	chr19:37365000-37370000	ZNF genes & repeats	Left Ventricle	heart
35	chr19:37365600-37371200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
36	chr19:37365800-37371600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
37	chr19:37366000-37369600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr19:37366000-37370800	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
39	chr19:37366000-37371000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
40	chr19:37366000-37371200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
41	chr19:37366000-37371400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
42	chr19:37366000-37371600	ZNF genes & repeats	Fetal Lung	lung
43	chr19:37366200-37371000	ZNF genes & repeats	Dnd41	blood
44	chr19:37366400-37371000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
45	chr19:37367600-37371000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr19:37367800-37370200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr19:37367800-37371000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
48	chr19:37368800-37369600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr19:37369000-37370800	Weak transcription	Fetal Thymus	thymus
50	chr19:37369200-37369800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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