Variant report

Variant	rs73621705
Chromosome Location	chr19:37463559-37463560
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37463031..37465781-chr19:37707432..37709239,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245680	Chromatin interaction
ENSG00000188283	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs56745069	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57080651	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57231148	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58378903	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58409556	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58948692	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59043209	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59055784	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59197853	1.00[AMR][1000 genomes]
rs59447056	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59677148	1.00[AMR][1000 genomes]
rs60096362	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60418129	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60561021	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60765291	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61166122	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61354972	0.88[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	1.00[AMR][1000 genomes]
rs73618496	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73620004	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73620013	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73620851	1.00[AMR][1000 genomes]
rs73620899	1.00[AMR][1000 genomes]
rs73621760	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73622714	1.00[AMR][1000 genomes]
rs73622716	1.00[AMR][1000 genomes]
rs73623522	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623524	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623526	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623563	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623564	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623569	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625205	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625207	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625229	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625231	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625236	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625241	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625242	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625243	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625257	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625289	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73626561	1.00[AMR][1000 genomes]
rs73626571	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73626582	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73626748	1.00[AMR][1000 genomes]
rs73626755	1.00[AMR][1000 genomes]
rs73626758	1.00[AMR][1000 genomes]
rs73626762	1.00[AMR][1000 genomes]
rs73626765	1.00[AMR][1000 genomes]
rs73626768	1.00[AMR][1000 genomes]
rs73628736	1.00[AMR][1000 genomes]
rs73628740	1.00[AMR][1000 genomes]
rs73628744	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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	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
8	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
9	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
10	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
11	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
12	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
13	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
14	nsv833818	chr19:37427808-37602800	Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
15	nsv579463	chr19:37437106-37488055	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
16	nsv911652	chr19:37437106-37774299	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS 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	17 gene(s)	inside rSNPs	diseases
17	esv2370712	chr19:37463253-37463683	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
18	esv1828064	chr19:37463270-37467305	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
19	esv3500320	chr19:37463287-37463609	Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
20	esv3500321	chr19:37463385-37463561	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37458000-37463600	Weak transcription	Aorta	Aorta
2	chr19:37458000-37463600	Weak transcription	Gastric	stomach
3	chr19:37458000-37463600	Weak transcription	Ovary	ovary
4	chr19:37458000-37463600	Weak transcription	Spleen	Spleen
5	chr19:37461000-37463600	Weak transcription	Liver	Liver
6	chr19:37463200-37463600	Active TSS	Primary T helper naive cells from peripheral blood	blood
7	chr19:37463200-37463600	Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr19:37463200-37463600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr19:37463200-37463600	Enhancers	Duodenum Mucosa	Duodenum
10	chr19:37463200-37463600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
11	chr19:37463200-37464000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:37463200-37464000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:37463200-37464000	Flanking Active TSS	Dnd41	blood
14	chr19:37463200-37464200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr19:37463200-37464200	Active TSS	Colonic Mucosa	Colon
16	chr19:37463200-37464600	Active TSS	Brain Angular Gyrus	brain
17	chr19:37463200-37464600	Active TSS	Brain Anterior Caudate	brain
18	chr19:37463200-37464600	Active TSS	Brain Cingulate Gyrus	brain
19	chr19:37463200-37464600	Active TSS	Placenta Amnion	Placenta Amnion
20	chr19:37463200-37464600	Active TSS	NHEK	skin
21	chr19:37463200-37464800	Active TSS	Fetal Intestine Small	intestine
22	chr19:37463200-37465000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr19:37463200-37465000	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr19:37463200-37465200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
25	chr19:37463200-37465200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
26	chr19:37463400-37463600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
27	chr19:37463400-37463600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr19:37463400-37463600	Enhancers	Primary B cells from cord blood	blood
29	chr19:37463400-37463600	Enhancers	Primary T cells fromperipheralblood	blood
30	chr19:37463400-37463600	Active TSS	Primary hematopoietic stem cells	blood
31	chr19:37463400-37463600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr19:37463400-37463600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr19:37463400-37463600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr19:37463400-37463600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr19:37463400-37463600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr19:37463400-37463600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr19:37463400-37463600	Flanking Active TSS	Brain Substantia Nigra	brain
38	chr19:37463400-37463600	Flanking Active TSS	Fetal Brain Male	brain
39	chr19:37463400-37463600	Enhancers	Right Ventricle	heart
40	chr19:37463400-37463600	Enhancers	Stomach Mucosa	stomach
41	chr19:37463400-37463600	Flanking Active TSS	Thymus	Thymus
42	chr19:37463400-37463600	Enhancers	HMEC	breast
43	chr19:37463400-37463800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr19:37463400-37463800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr19:37463400-37463800	Enhancers	Primary B cells from peripheral blood	blood
46	chr19:37463400-37463800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr19:37463400-37463800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr19:37463400-37463800	Flanking Active TSS	Brain Germinal Matrix	brain
49	chr19:37463400-37463800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr19:37463400-37463800	Flanking Active TSS	Colon Smooth Muscle	Colon

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