Variant report

Variant	rs10231751
Chromosome Location	chr7:26548421-26548422
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:26542492..26545178-chr7:26547113..26548830,2	K562	blood:
2	chr7:26548205..26550770-chr7:26678348..26680933,2	K562	blood:
3	chr7:26539676..26541308-chr7:26546685..26549148,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs730954	0.84[CEU][hapmap]
rs878361	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029596	chr7:26302739-26737913	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538804	chr7:26302739-26737913	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
4	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10231751	CPVL	cis	parietal	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26545200-26548600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:26546000-26548600	Enhancers	Fetal Brain Female	brain
3	chr7:26547400-26549000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:26547400-26550800	Weak transcription	Fetal Lung	lung
5	chr7:26548000-26548600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:26548000-26548800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:26548000-26549200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:26548200-26548600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr7:26548200-26548600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr7:26548200-26548600	Enhancers	H9 Cell Line	embryonic stem cell
11	chr7:26548200-26548600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:26548200-26548600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
13	chr7:26548200-26548600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:26548200-26548800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:26548200-26548800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr7:26548200-26548800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:26548200-26549000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:26548200-26549000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr7:26548200-26549000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr7:26548200-26549000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr7:26548200-26549200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:26548400-26548600	Enhancers	Brain Germinal Matrix	brain
23	chr7:26548400-26548600	Bivalent Enhancer	Esophagus	oesophagus
24	chr7:26548400-26548600	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr7:26548400-26548800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr7:26548400-26548800	Enhancers	Stomach Mucosa	stomach
27	chr7:26548400-26549000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:26548400-26549000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr7:26548400-26549000	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr7:26548400-26549000	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr7:26548400-26552200	Weak transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links