Variant report

Variant	rs58869661
Chromosome Location	chr19:42821738-42821739
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:42820376-42821887	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr19:42820404-42822032	PFSK-1	brain:	n/a	n/a
3	RAD21	chr19:42821714-42822112	HepG2	liver:	n/a	n/a
4	RAD21	chr19:42821720-42822037	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:42819448..42823717-chr19:42824551..42827641,3	MCF-7	breast:
2	chr19:42820314..42823687-chr19:42826529..42830552,5	K562	blood:
3	chr19:42820314..42825247-chr19:42826529..42830814,5	K562	blood:
4	chr19:42782712..42785277-chr19:42821119..42823365,2	K562	blood:

Variant related genes	Relation type
TMEM145	TF binding region
ENSG00000079432	Chromatin interaction
ENSG00000105429	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs73932879	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
4	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
5	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
6	nsv833834	chr19:42736444-42835027	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	42 gene(s)	inside rSNPs	diseases
7	nsv911785	chr19:42741124-42917545	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42818000-42828600	Weak transcription	Right Atrium	heart
2	chr19:42818200-42828600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr19:42818200-42828800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr19:42818200-42829200	Weak transcription	Gastric	stomach
5	chr19:42818400-42828800	Weak transcription	Brain Angular Gyrus	brain
6	chr19:42818800-42828800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr19:42819000-42827400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr19:42819000-42828400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr19:42820600-42821800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:42820600-42821800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
11	chr19:42820600-42821800	Enhancers	A549	lung
12	chr19:42820600-42822000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr19:42820600-42822000	Enhancers	Spleen	Spleen
14	chr19:42820600-42822200	Flanking Active TSS	HepG2	liver
15	chr19:42821400-42821800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr19:42821400-42822200	Enhancers	GM12878-XiMat	blood
17	chr19:42821600-42822000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr19:42821600-42822000	Strong transcription	Fetal Brain Female	brain
19	chr19:42821600-42825000	Weak transcription	Brain Germinal Matrix	brain
20	chr19:42821600-42829200	Weak transcription	K562	blood

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