Variant report

Variant	rs7069564
Chromosome Location	chr10:112897070-112897071
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	chr10:112886782..112889479-chr10:112895290..112897533,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11195436	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12244588	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4314992	0.83[ASN][1000 genomes]
rs869244	0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498045	chr10:112794518-113353550	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7069564	SMNDC1	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:112889800-112897400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:112895200-112898400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr10:112895200-112899400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr10:112895800-112898400	Enhancers	H9 Cell Line	embryonic stem cell
5	chr10:112895800-112898600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr10:112895800-112899200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr10:112896000-112899200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr10:112896200-112898400	Enhancers	Stomach Mucosa	stomach
9	chr10:112896200-112899000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr10:112896400-112897600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr10:112896600-112897200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr10:112896600-112897200	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr10:112896600-112897600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr10:112896600-112897800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr10:112896600-112898000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr10:112896600-112898000	Enhancers	HepG2	liver
17	chr10:112896800-112897200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr10:112896800-112897600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr10:112896800-112897600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr10:112896800-112898000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr10:112896800-112898000	Enhancers	Duodenum Mucosa	Duodenum
22	chr10:112896800-112898200	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr10:112896800-112902600	Weak transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links