Variant report

Variant	rs59197853
Chromosome Location	chr19:37417713-37417714
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37417109..37418736-chr19:37419934..37422422,2	MCF-7	breast:

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs56745069	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57080651	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57231148	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58378903	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58409556	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58948692	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59043209	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59055784	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59447056	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59677148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60096362	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60418129	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60561021	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60765291	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61166122	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61354972	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73607647	1.00[AMR][1000 genomes]
rs73607662	1.00[AMR][1000 genomes]
rs73607668	1.00[AMR][1000 genomes]
rs73607672	1.00[AMR][1000 genomes]
rs73607677	1.00[AMR][1000 genomes]
rs73607678	1.00[AMR][1000 genomes]
rs73607681	1.00[AMR][1000 genomes]
rs73614169	1.00[AMR][1000 genomes]
rs73614181	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73618496	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73620004	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73620013	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73620851	1.00[AMR][1000 genomes]
rs73620899	1.00[AMR][1000 genomes]
rs73621705	1.00[AMR][1000 genomes]
rs73621760	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623522	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623524	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623526	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623563	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623564	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623569	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625205	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625207	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625229	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625231	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625236	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625241	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625242	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625243	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625257	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625289	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73626561	1.00[AMR][1000 genomes]
rs73626571	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73626582	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73626748	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73626755	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73626758	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73626762	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73626765	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73626768	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73628736	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73628740	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73628744	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	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

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37408200-37436400	Weak transcription	Fetal Thymus	thymus
2	chr19:37408200-37440600	Weak transcription	Stomach Mucosa	stomach
3	chr19:37408400-37440600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr19:37408600-37439600	Weak transcription	Fetal Heart	heart
5	chr19:37409000-37444800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:37409000-37447400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr19:37409600-37423600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr19:37409800-37421400	Weak transcription	Fetal Brain Male	brain
9	chr19:37410600-37427600	Weak transcription	NH-A	brain
10	chr19:37411600-37418000	Strong transcription	NHDF-Ad	bronchial
11	chr19:37411800-37418600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
12	chr19:37412600-37418600	Strong transcription	Brain Inferior Temporal Lobe	brain
13	chr19:37412600-37419600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
14	chr19:37413600-37421400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr19:37413600-37427600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr19:37413800-37418800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr19:37413800-37418800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr19:37413800-37418800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr19:37413800-37420200	Weak transcription	Fetal Stomach	stomach
20	chr19:37413800-37420600	Weak transcription	Pancreas	Pancrea
21	chr19:37413800-37421400	Weak transcription	Brain Hippocampus Middle	brain
22	chr19:37413800-37421800	Weak transcription	Colonic Mucosa	Colon
23	chr19:37413800-37421800	Weak transcription	Esophagus	oesophagus
24	chr19:37413800-37421800	Weak transcription	Fetal Intestine Large	intestine
25	chr19:37413800-37422000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr19:37413800-37422000	Weak transcription	Gastric	stomach
27	chr19:37413800-37422000	Weak transcription	Thymus	Thymus
28	chr19:37413800-37427400	Weak transcription	Right Ventricle	heart
29	chr19:37413800-37427600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr19:37413800-37427800	Weak transcription	HSMMtube	muscle
31	chr19:37413800-37428000	Weak transcription	HUVEC	blood vessel
32	chr19:37414000-37421600	Weak transcription	Fetal Brain Female	brain
33	chr19:37414400-37421800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr19:37414800-37420600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr19:37414800-37421800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr19:37415000-37421600	Weak transcription	Colon Smooth Muscle	Colon
37	chr19:37415600-37418400	Strong transcription	Left Ventricle	heart
38	chr19:37415800-37417800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
39	chr19:37415800-37417800	Strong transcription	Stomach Smooth Muscle	stomach
40	chr19:37415800-37418400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
41	chr19:37415800-37418400	ZNF genes & repeats	Adipose Nuclei	Adipose
42	chr19:37415800-37418600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr19:37415800-37418600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
44	chr19:37415800-37418600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
45	chr19:37415800-37419000	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr19:37415800-37419400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr19:37415800-37419600	ZNF genes & repeats	Fetal Lung	lung
48	chr19:37415800-37444600	ZNF genes & repeats	Liver	Liver
49	chr19:37416000-37417800	Strong transcription	Brain Germinal Matrix	brain
50	chr19:37416000-37418400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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