Variant report

Variant	rs56914671
Chromosome Location	chr15:42440679-42440680
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	chr15:42440587..42442217-chr15:42443778..42446321,2	K562	blood:
2	chr15:42279724..42282493-chr15:42437868..42440703,2	K562	blood:

Variant related genes	Relation type
ENSG00000188089	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs16972779	0.92[ASN][1000 genomes]
rs56030609	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv529687	chr15:42157320-42621682	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers 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 miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv471683	chr15:42334375-42502982	Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv832985	chr15:42371482-42564966	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS 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	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42411600-42444200	Weak transcription	Right Atrium	heart
2	chr15:42433800-42442800	Weak transcription	Gastric	stomach
3	chr15:42434600-42442600	Weak transcription	Esophagus	oesophagus
4	chr15:42435000-42442400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr15:42435800-42443400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr15:42435800-42443600	Weak transcription	Colonic Mucosa	Colon
7	chr15:42436000-42452000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:42439200-42442400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr15:42439400-42442800	Weak transcription	NHEK	skin
10	chr15:42439400-42443600	Weak transcription	Placenta	Placenta
11	chr15:42439400-42451200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr15:42439400-42451800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr15:42439600-42443400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr15:42439600-42444200	Weak transcription	Fetal Intestine Small	intestine
15	chr15:42439600-42448600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr15:42439800-42442200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr15:42440600-42441400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr15:42440600-42441600	Enhancers	Duodenum Mucosa	Duodenum
19	chr15:42440600-42441600	Enhancers	Left Ventricle	heart
20	chr15:42440600-42442000	Enhancers	Fetal Heart	heart
21	chr15:42440600-42442000	Enhancers	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links