Variant report

Variant	rs983494
Chromosome Location	chr1:160703965-160703966
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:160702552..160704615-chr1:160709691..160711746,2	K562	blood:
2	chr1:160703115..160704961-chr1:160709478..160711746,2	K562	blood:
3	chr1:160696639..160698264-chr1:160702633..160704660,2	K562	blood:
4	chr1:160702268..160704148-chr1:160730105..160732611,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11265473	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs11588524	1.00[ASN][1000 genomes]
rs17313034	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2090756	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2295616	0.91[YRI][hapmap]
rs3766370	0.83[ASW][hapmap];0.83[MKK][hapmap];0.91[YRI][hapmap]
rs3766373	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3845628	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66692283	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72710704	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1822379	chr1:160545332-160831143	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv831714	chr1:160581168-160776809	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv428532	chr1:160671125-160767708	Flanking Active TSS Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs983494	USP21	cis	cerebellum	SCAN
rs983494	RXFP4	cis	parietal	SCAN
rs983494	SLAMF7	Cis_1M	lymphoblastoid	RTeQTL
rs983494	OR10J3	cis	cerebellum	SCAN
rs983494	SLAMF7	cis	lymphoblastoid	seeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160697200-160711600	Weak transcription	Thymus	Thymus
2	chr1:160698400-160708000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:160701400-160704200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr1:160701800-160704400	Enhancers	Primary B cells from peripheral blood	blood
5	chr1:160701800-160705000	ZNF genes & repeats	GM12878-XiMat	blood
6	chr1:160702000-160704400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:160702200-160704600	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr1:160702400-160704400	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr1:160702800-160704600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr1:160703200-160704200	Enhancers	Primary T cells from cord blood	blood
11	chr1:160703400-160704000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr1:160703400-160704000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:160703400-160704400	Enhancers	Primary B cells from cord blood	blood
14	chr1:160703400-160704400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:160703400-160704400	Enhancers	Dnd41	blood
16	chr1:160703600-160704000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
17	chr1:160703600-160704000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr1:160703600-160704200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr1:160703800-160704000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr1:160703800-160704000	Enhancers	Primary T killer memory cells from peripheral blood	blood

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