Variant report

Variant	rs60030128
Chromosome Location	chr19:37125451-37125452
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37125356..37128254-chr19:37129692..37132005,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197808	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs57839679	0.88[AFR][1000 genomes]
rs59333503	0.88[AFR][1000 genomes]
rs59938693	0.81[AFR][1000 genomes]
rs59942286	1.00[AFR][1000 genomes]
rs60794053	1.00[AFR][1000 genomes]
rs7251026	0.88[AFR][1000 genomes]
rs7255273	1.00[AFR][1000 genomes]
rs7258986	0.88[AFR][1000 genomes]
rs8100920	0.94[AFR][1000 genomes]
rs8112910	0.88[AFR][1000 genomes]
rs8113012	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv833817	chr19:36978852-37195695	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	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
7	esv3492171	chr19:37122012-37190210	Weak transcription Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a
8	esv3492172	chr19:37122562-37190060	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a
9	esv3492173	chr19:37122562-37190060	Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37098000-37156000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:37102200-37135200	ZNF genes & repeats	Fetal Brain Female	brain
3	chr19:37104400-37125600	ZNF genes & repeats	Brain Germinal Matrix	brain
4	chr19:37106800-37151000	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr19:37106800-37156200	ZNF genes & repeats	Liver	Liver
6	chr19:37107000-37134800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr19:37107000-37152400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
8	chr19:37107800-37134600	ZNF genes & repeats	Brain Anterior Caudate	brain
9	chr19:37110400-37152600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr19:37115400-37131800	ZNF genes & repeats	Left Ventricle	heart
11	chr19:37117800-37128400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr19:37121400-37127600	ZNF genes & repeats	Brain Angular Gyrus	brain
13	chr19:37121400-37134600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
14	chr19:37121600-37135200	ZNF genes & repeats	Brain Hippocampus Middle	brain
15	chr19:37122000-37126200	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
16	chr19:37122000-37127800	ZNF genes & repeats	Fetal Brain Male	brain
17	chr19:37122600-37139800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
18	chr19:37122800-37134800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
19	chr19:37124600-37134600	ZNF genes & repeats	Brain Substantia Nigra	brain
20	chr19:37124800-37155600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
21	chr19:37125000-37125600	ZNF genes & repeats	Aorta	Aorta
22	chr19:37125000-37125600	ZNF genes & repeats	Ovary	ovary
23	chr19:37125000-37128000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
24	chr19:37125000-37128000	ZNF genes & repeats	Fetal Lung	lung
25	chr19:37125000-37134600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
26	chr19:37125000-37134600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
27	chr19:37125200-37125600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle

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