Variant report

Variant	rs12706382
Chromosome Location	chr7:121519721-121519722
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs2402591	0.84[ASN][1000 genomes]
rs3817483	0.86[MEX][hapmap]
rs6974265	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429808	chr7:121384049-121600049	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv1802911	chr7:121489994-121524500	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12706382	N4BP2L1	trans	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121515000-121522400	Weak transcription	HMEC	breast
2	chr7:121515400-121520800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:121515600-121543600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:121516200-121524600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr7:121517400-121521000	Weak transcription	Brain Anterior Caudate	brain
6	chr7:121517400-121521800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:121517400-121522400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:121517400-121523600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:121517600-121521400	Enhancers	Fetal Brain Male	brain
10	chr7:121517600-121523400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr7:121518000-121520400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:121518200-121521600	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr7:121518400-121521800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr7:121518400-121522400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr7:121518600-121521000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr7:121518800-121519800	Flanking Active TSS	Fetal Brain Female	brain
17	chr7:121519000-121519800	Enhancers	H1 Cell Line	embryonic stem cell
18	chr7:121519400-121522400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:121519600-121520000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:121519600-121520200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr7:121519600-121520400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:121519600-121520600	Weak transcription	NHEK	skin
23	chr7:121519600-121520800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr7:121519600-121521400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:121519600-121523000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr7:121519600-121523400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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