Variant report

Variant	rs2119660
Chromosome Location	chr19:45202640-45202641
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1441617	1.00[JPT][hapmap]
rs2927457	1.00[JPT][hapmap]
rs9749118	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062812	chr19:45042262-45214796	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv912116	chr19:45146103-45298069	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv9737	chr19:45178110-45206629	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2119660	MYBPH	trans	brain	seeQTL
rs2119660	CXCL11	trans	brain	seeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45195800-45203000	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr19:45196200-45202800	Enhancers	Rectal Mucosa Donor 29	rectum
3	chr19:45199200-45203400	Enhancers	HepG2	liver
4	chr19:45200600-45205800	Weak transcription	Fetal Intestine Small	intestine
5	chr19:45202000-45204000	Weak transcription	Colonic Mucosa	Colon
6	chr19:45202000-45204000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr19:45202000-45204600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr19:45202000-45206600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:45202000-45217800	Weak transcription	Liver	Liver
10	chr19:45202200-45204000	Weak transcription	Stomach Mucosa	stomach
11	chr19:45202200-45208800	Weak transcription	Pancreas	Pancrea
12	chr19:45202200-45213200	Weak transcription	Spleen	Spleen
13	chr19:45202400-45203000	Enhancers	Hela-S3	cervix
14	chr19:45202600-45203000	Enhancers	K562	blood
15	chr19:45202600-45204000	Weak transcription	A549	lung

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Input of quick search could be:

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

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