Variant report

Variant	rs960930
Chromosome Location	chr7:121586237-121586238
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	chr7:121581530..121583075-chr7:121585844..121587715,2	K562	blood:
2	chr7:121581236..121583075-chr7:121586050..121587715,2	K562	blood:

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

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

rs_ID	r²[population]
rs13437930	0.81[CEU][hapmap]
rs17143950	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs28627590	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7785418	0.83[YRI][hapmap]

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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs960930	RNF148	cis	parietal	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121571600-121597400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:121571800-121601200	Weak transcription	Esophagus	oesophagus
3	chr7:121582200-121590200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr7:121582200-121591600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:121582200-121595000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:121582400-121591800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:121582600-121617600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:121582800-121590200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:121583000-121588200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:121583000-121592400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:121583000-121592600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr7:121584800-121586400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:121584800-121586400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
14	chr7:121585000-121586400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr7:121585000-121586400	Enhancers	HMEC	breast
16	chr7:121585000-121587400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:121585400-121586600	Flanking Active TSS	NHEK	skin
18	chr7:121585600-121586400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr7:121585800-121586600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:121585800-121589000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr7:121586000-121590600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr7:121586000-121591600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr7:121586200-121587200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:121586200-121590600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr7:121586200-121601200	Weak transcription	Fetal Brain Female	brain

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