Variant report

Variant	rs58948692
Chromosome Location	chr19:37428904-37428905
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	chr19:37411760..37413673-chr19:37428843..37431824,2	MCF-7	breast:
2	chr19:37428613..37430520-chr19:37430554..37432406,2	MCF-7	breast:

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs12459805	0.88[AFR][1000 genomes]
rs12459844	0.88[AFR][1000 genomes]
rs12460285	0.88[AFR][1000 genomes]
rs12460291	0.88[AFR][1000 genomes]
rs12461119	0.88[AFR][1000 genomes]
rs12461358	0.88[AFR][1000 genomes]
rs12461446	0.88[AFR][1000 genomes]
rs12461563	0.88[AFR][1000 genomes]
rs12461933	0.88[AFR][1000 genomes]
rs12463101	0.88[AFR][1000 genomes]
rs12463280	0.88[AFR][1000 genomes]
rs12463328	0.88[AFR][1000 genomes]
rs35692141	0.88[AFR][1000 genomes]
rs56717658	0.88[AFR][1000 genomes]
rs56745069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57080651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57231148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58378903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58409556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59043209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59055784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59197853	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59447056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59677148	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60096362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60418129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60561021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60765291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61166122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61354972	1.00[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]
rs73618072	0.88[AFR][1000 genomes]
rs73618081	0.88[AFR][1000 genomes]
rs73618082	0.88[AFR][1000 genomes]
rs73618086	0.88[AFR][1000 genomes]
rs73618088	0.88[AFR][1000 genomes]
rs73618496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73620004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73620013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73620851	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73620899	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73621705	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73621760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73622714	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73622716	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73626561	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73626571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73626582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73626588	0.88[AFR][1000 genomes]
rs73626597	0.88[AFR][1000 genomes]
rs73626600	0.88[AFR][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: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	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
14	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
15	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
16	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

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

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	chr19:37415800-37444600	ZNF genes & repeats	Liver	Liver
8	chr19:37419400-37447400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr19:37420600-37443000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
10	chr19:37420600-37447400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
11	chr19:37420600-37447600	ZNF genes & repeats	Adipose Nuclei	Adipose
12	chr19:37423600-37430000	Weak transcription	Fetal Stomach	stomach
13	chr19:37426000-37432000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:37426800-37430400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
15	chr19:37426800-37438200	Strong transcription	Skeletal Muscle Female	skeletal muscle
16	chr19:37427000-37432200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr19:37427200-37429000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
18	chr19:37427200-37429800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
19	chr19:37427200-37430400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr19:37427200-37433800	Strong transcription	Dnd41	blood
21	chr19:37427200-37437200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr19:37427200-37441600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
23	chr19:37427400-37429400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr19:37427400-37430400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
25	chr19:37427400-37430400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
26	chr19:37427400-37430600	Strong transcription	Brain Substantia Nigra	brain
27	chr19:37427400-37431200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr19:37427400-37431400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr19:37427400-37432400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
30	chr19:37427400-37432400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
31	chr19:37427400-37432600	Strong transcription	Primary B cells from peripheral blood	blood
32	chr19:37427400-37432800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:37427400-37432800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
34	chr19:37427400-37437200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
35	chr19:37427400-37437400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr19:37427600-37429000	Strong transcription	Fetal Muscle Trunk	muscle
37	chr19:37427600-37429600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr19:37427600-37430200	Strong transcription	Colon Smooth Muscle	Colon
39	chr19:37427600-37430400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
40	chr19:37427600-37430400	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr19:37427600-37430400	Strong transcription	Fetal Lung	lung
42	chr19:37427600-37431000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr19:37427600-37431000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr19:37427600-37431000	Strong transcription	Brain Angular Gyrus	brain
45	chr19:37427600-37431000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr19:37427600-37431000	Strong transcription	Placenta Amnion	Placenta Amnion
47	chr19:37427600-37431200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
48	chr19:37427600-37431200	Strong transcription	Fetal Kidney	kidney
49	chr19:37427600-37431400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
50	chr19:37427600-37431400	Strong transcription	Brain Anterior Caudate	brain

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