Variant report

Variant	rs7777321
Chromosome Location	chr7:11442797-11442798
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10255748	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10950347	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs10950348	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11772219	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11772248	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11772286	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12670599	0.89[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.82[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1468244	0.80[CEU][hapmap];0.83[EUR][1000 genomes]
rs1476566	1.00[CHB][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17623777	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1859225	1.00[CEU][hapmap];0.81[CHD][hapmap];0.88[JPT][hapmap];0.82[MEX][hapmap];0.92[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1859226	0.80[CEU][hapmap];0.87[MKK][hapmap];0.80[TSI][hapmap];0.93[YRI][hapmap];0.82[EUR][1000 genomes]
rs1968059	0.80[CEU][hapmap];0.89[CHB][hapmap];0.81[CHD][hapmap];0.82[GIH][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1978137	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2018144	1.00[CHB][hapmap];0.81[CHD][hapmap]
rs2023868	0.80[CEU][hapmap];0.86[CHB][hapmap];0.96[YRI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2023869	0.87[CHB][hapmap];0.81[YRI][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2107162	0.89[ASN][1000 genomes]
rs2189351	0.91[CEU][hapmap]
rs2189352	0.89[CHB][hapmap]
rs2285757	0.89[CHB][hapmap];0.82[YRI][hapmap]
rs2301743	0.80[CEU][hapmap];0.82[EUR][1000 genomes]
rs4351330	0.87[CEU][hapmap];0.89[GIH][hapmap]
rs4636088	0.82[ASN][1000 genomes]
rs4719273	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4720983	0.89[CHB][hapmap];0.93[YRI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58102730	0.87[EUR][1000 genomes]
rs6460812	0.91[CEU][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6954956	0.91[ASN][1000 genomes]
rs6956916	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6958033	0.91[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap]
rs6962687	0.91[CEU][hapmap];0.80[TSI][hapmap];0.81[EUR][1000 genomes]
rs6975177	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6975407	0.80[CEU][hapmap];0.89[CHB][hapmap];0.81[CHD][hapmap];0.82[GIH][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.96[YRI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs757234	0.88[JPT][hapmap]
rs7777246	0.91[CEU][hapmap]
rs7793926	0.87[EUR][1000 genomes]
rs7794215	0.88[JPT][hapmap]
rs7794645	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7796389	0.89[CHB][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7804531	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7810604	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.82[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7811128	1.00[ASW][hapmap];0.91[CEU][hapmap];0.83[TSI][hapmap];0.86[YRI][hapmap]
rs7811313	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs984239	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019888	chr7:10712858-11496785	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1029836	chr7:10713523-11492751	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv538730	chr7:10713523-11492751	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1024171	chr7:10810444-11559156	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv817291	chr7:10875417-11562683	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv523279	chr7:11198193-11473561	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv518180	chr7:11198193-11475819	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1015837	chr7:11208733-11475112	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv538732	chr7:11208733-11475112	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1028326	chr7:11221209-11754436	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv538733	chr7:11221209-11754436	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv830902	chr7:11336527-11523904	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv830903	chr7:11384957-11586376	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv1032865	chr7:11395480-11477467	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	esv3346993	chr7:11430761-11447799	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7777321	NAALADL2	trans	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11428400-11445600	Weak transcription	Fetal Brain Male	brain
2	chr7:11431200-11461600	Weak transcription	A549	lung
3	chr7:11431600-11445800	Weak transcription	Ovary	ovary
4	chr7:11431600-11446000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:11432200-11453200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr7:11432400-11447400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr7:11432600-11445600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr7:11433000-11453400	Weak transcription	Fetal Stomach	stomach
9	chr7:11433200-11443800	Weak transcription	Liver	Liver
10	chr7:11434400-11446400	Weak transcription	Adipose Nuclei	Adipose
11	chr7:11435800-11453200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr7:11438600-11459800	Weak transcription	Fetal Brain Female	brain
13	chr7:11439000-11444000	Weak transcription	Fetal Intestine Small	intestine
14	chr7:11440000-11443800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:11440800-11446400	Weak transcription	Fetal Kidney	kidney
16	chr7:11442200-11447400	Strong transcription	Placenta	Placenta
17	chr7:11442400-11443800	Weak transcription	Fetal Lung	lung

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