Variant report

Variant	rs17615120
Chromosome Location	chr2:58936757-58936758
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:58935937..58937842-chr2:58949736..58951617,2	K562	blood:
2	chr2:58926366..58928682-chr2:58934169..58936932,2	K562	blood:
3	chr2:58935718..58937483-chr2:58954738..58957227,2	K562	blood:
4	chr2:58786984..58789724-chr2:58935931..58938374,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10490092	0.97[EUR][1000 genomes]
rs10490093	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13026438	0.98[EUR][1000 genomes]
rs13421824	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17049642	0.97[EUR][1000 genomes]
rs17190597	0.94[EUR][1000 genomes]
rs17190618	0.92[EUR][1000 genomes]
rs17269154	0.97[EUR][1000 genomes]
rs17269182	0.98[EUR][1000 genomes]
rs17549476	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17549656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17549677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17549712	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17549754	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17549803	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17550194	0.87[AMR][1000 genomes]
rs17550487	0.84[AMR][1000 genomes]
rs17614872	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17614895	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17615036	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17615185	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17615279	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17615309	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17615381	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17615638	0.87[AMR][1000 genomes]
rs1922781	0.97[EUR][1000 genomes]
rs1922783	0.87[AMR][1000 genomes]
rs1950160	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2204913	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55645922	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55745617	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56174720	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56266136	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56365214	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60018257	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60888271	0.87[AMR][1000 genomes]
rs984881	0.96[EUR][1000 genomes]
rs984882	0.97[EUR][1000 genomes]
rs984883	0.95[EUR][1000 genomes]
rs993531	0.87[AMR][1000 genomes]
rs993532	0.87[AMR][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	nsv431180	chr2:58857542-59178687	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17615120	LOC339803	cis	parietal	SCAN
rs17615120	SPTBN1	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58934800-58937200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:58935600-58937400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:58935600-58937800	Enhancers	K562	blood
4	chr2:58936000-58937000	Weak transcription	Fetal Brain Female	brain
5	chr2:58936400-58937000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:58936600-58936800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:58936600-58936800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:58936600-58936800	Enhancers	Right Atrium	heart
9	chr2:58936600-58937000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:58936600-58937000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:58936600-58937400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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