Variant report

Variant	rs73605193
Chromosome Location	chr19:55845206-55845207
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10426959	1.00[EUR][1000 genomes]
rs57232155	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7249465	1.00[EUR][1000 genomes]
rs73605177	1.00[EUR][1000 genomes]
rs73605189	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73935333	1.00[EUR][1000 genomes]
rs8101351	1.00[EUR][1000 genomes]
rs8104117	1.00[EUR][1000 genomes]
rs8113269	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1816335	chr19:55683977-55901099	Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1065760	chr19:55721521-55929740	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
3	nsv912455	chr19:55725410-55879872	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv912456	chr19:55725410-55925500	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
5	nsv912457	chr19:55725410-56019597	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	228 gene(s)	inside rSNPs	diseases
6	nsv912459	chr19:55791380-55845386	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv432086	chr19:55807586-56050844	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats 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 miRNA target site	220 gene(s)	inside rSNPs	diseases
8	nsv912460	chr19:55814881-55897327	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55813600-55850000	Weak transcription	Right Atrium	heart
2	chr19:55836800-55848400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:55839200-55850000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr19:55844200-55846200	Enhancers	Fetal Intestine Large	intestine
5	chr19:55844400-55846400	Enhancers	Fetal Intestine Small	intestine
6	chr19:55844400-55849600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr19:55844600-55849600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr19:55845000-55845400	Flanking Active TSS	HepG2	liver
9	chr19:55845000-55845600	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr19:55845000-55846000	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr19:55845200-55845400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr19:55845200-55845600	Enhancers	Hela-S3	cervix
13	chr19:55845200-55845800	Enhancers	Duodenum Mucosa	Duodenum
14	chr19:55845200-55845800	Enhancers	A549	lung
15	chr19:55845200-55845800	Enhancers	K562	blood
16	chr19:55845200-55846000	Enhancers	Stomach Mucosa	stomach

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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