Variant report

Variant	rs1918031
Chromosome Location	chr7:121678362-121678363
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10236532	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10242443	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11771234	0.88[CHB][hapmap];0.90[CHD][hapmap];0.82[GIH][hapmap];0.81[MKK][hapmap];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1875409	1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[TSI][hapmap];0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1916890	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2134059	0.83[GIH][hapmap]
rs2268076	0.82[ASW][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.84[MKK][hapmap];0.84[TSI][hapmap];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2270884	0.93[CHB][hapmap];0.87[CHD][hapmap];0.92[GIH][hapmap];0.90[JPT][hapmap];0.84[TSI][hapmap]
rs2302338	1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2840105	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4140745	0.83[GIH][hapmap]
rs57199197	0.90[ASN][1000 genomes]
rs60248135	0.90[ASN][1000 genomes]
rs61173729	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62472934	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6968699	0.82[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.92[GIH][hapmap];0.90[JPT][hapmap];0.81[MEX][hapmap];0.84[MKK][hapmap];0.84[TSI][hapmap];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7787099	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[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	nsv608334	chr7:121670522-121725961	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1918031	TSPAN12	cis	parietal	SCAN
rs1918031	CADPS2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121634400-121706000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:121651200-121717600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:121652200-121679000	Weak transcription	NHEK	skin
4	chr7:121652400-121683200	Weak transcription	Brain Germinal Matrix	brain
5	chr7:121654000-121679000	Weak transcription	Fetal Brain Female	brain
6	chr7:121654000-121679400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:121655600-121699000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:121663800-121705600	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr7:121667800-121696200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr7:121668000-121696800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr7:121668200-121697000	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr7:121670600-121680600	Weak transcription	Fetal Brain Male	brain
13	chr7:121671200-121681800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr7:121671200-121696800	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:121672200-121697200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:121672800-121679800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:121673200-121688000	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr7:121673200-121688600	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr7:121673600-121679400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:121674000-121687800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr7:121675600-121688000	Strong transcription	H9 Cell Line	embryonic stem cell
22	chr7:121677400-121688800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:121677800-121680400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr7:121678000-121685800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr7:121678200-121681200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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