Variant report

Variant	rs7011330
Chromosome Location	chr8:130115644-130115645
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10093150	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10956463	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10956464	0.94[ASN][1000 genomes]
rs10956465	0.85[ASN][1000 genomes]
rs12546355	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13263573	0.80[AMR][1000 genomes]
rs13270479	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28459683	0.82[AMR][1000 genomes]
rs28540589	0.80[AMR][1000 genomes]
rs28628837	0.80[AMR][1000 genomes]
rs4289775	0.88[ASN][1000 genomes]
rs4310170	0.84[ASN][1000 genomes]
rs4448233	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4524751	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4524752	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470696	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470698	0.84[ASN][1000 genomes]
rs6981888	0.84[ASN][1000 genomes]
rs6982195	0.84[ASN][1000 genomes]
rs6987260	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989504	0.80[AMR][1000 genomes]
rs6996505	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7001827	0.84[ASN][1000 genomes]
rs7004434	0.80[AMR][1000 genomes]
rs7007293	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72609876	0.86[ASN][1000 genomes]
rs7815753	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7821655	0.86[ASN][1000 genomes]
rs7824972	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7831436	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7839556	0.84[ASN][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	nsv891442	chr8:130016499-130130604	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv891443	chr8:130016499-130220746	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv891444	chr8:130024642-130130604	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	nsv612228	chr8:130115644-130130604	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7011330	NEU2	trans	cerebellum	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130110800-130116000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:130110800-130116000	Weak transcription	Pancreas	Pancrea
3	chr8:130110800-130116000	Weak transcription	Thymus	Thymus
4	chr8:130113200-130116000	Strong transcription	Fetal Thymus	thymus
5	chr8:130115000-130119200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:130115200-130116400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr8:130115200-130119000	Enhancers	NHEK	skin
8	chr8:130115200-130119200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:130115400-130116200	Enhancers	K562	blood
10	chr8:130115400-130116400	Enhancers	Fetal Muscle Leg	muscle
11	chr8:130115400-130118600	Enhancers	HMEC	breast
12	chr8:130115400-130118800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr8:130115400-130119000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:130115600-130116400	Enhancers	Placenta	Placenta
15	chr8:130115600-130126800	Genic enhancers	Dnd41	blood

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