Variant report

Variant	rs58790387
Chromosome Location	chr19:42538350-42538351
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	chr19:42527263..42533140-chr19:42533961..42538998,6	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs60967856	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv911781	chr19:42398450-42542999	Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42511000-42542600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:42527200-42541800	Weak transcription	Aorta	Aorta
3	chr19:42528400-42553000	Weak transcription	Spleen	Spleen
4	chr19:42529400-42541600	Weak transcription	Brain Anterior Caudate	brain
5	chr19:42529600-42540800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr19:42529600-42541800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr19:42529800-42541800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr19:42530200-42541200	Weak transcription	Fetal Heart	heart
9	chr19:42532000-42541800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr19:42533000-42545800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr19:42533200-42538600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr19:42534400-42539000	Enhancers	Adipose Nuclei	Adipose
13	chr19:42535600-42539800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr19:42535600-42540400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr19:42535600-42555200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr19:42535800-42540800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr19:42536000-42542000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr19:42536200-42540600	Weak transcription	Fetal Stomach	stomach
19	chr19:42536200-42541600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr19:42536400-42539000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr19:42536600-42540600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr19:42536600-42540600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr19:42536600-42540800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr19:42536800-42546200	Weak transcription	Brain Angular Gyrus	brain
25	chr19:42537000-42538600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr19:42537000-42538800	Weak transcription	Brain Substantia Nigra	brain
27	chr19:42537000-42538800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr19:42537000-42539000	Weak transcription	Right Atrium	heart
29	chr19:42537000-42539400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr19:42537000-42553200	Weak transcription	Colon Smooth Muscle	Colon
31	chr19:42537000-42557200	Weak transcription	Fetal Kidney	kidney
32	chr19:42537200-42538600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr19:42537200-42538600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr19:42537200-42538600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr19:42537200-42538600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr19:42537200-42538800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr19:42537200-42540000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr19:42537200-42540800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr19:42537200-42541800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr19:42537200-42542000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr19:42537200-42558600	Weak transcription	Brain Hippocampus Middle	brain
42	chr19:42537800-42538400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr19:42537800-42538600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr19:42538000-42538400	Weak transcription	Fetal Brain Female	brain
45	chr19:42538200-42538800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr19:42538200-42538800	Enhancers	Fetal Muscle Leg	muscle
47	chr19:42538200-42539000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr19:42538200-42539000	Genic enhancers	Brain Germinal Matrix	brain
49	chr19:42538200-42539400	Enhancers	Fetal Brain Male	brain
50	chr19:42538200-42539800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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