Variant report

Variant	rs17123435
Chromosome Location	chr12:60541714-60541715
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:60541351..60544237-chr12:60546904..60548454,2	K562	blood:
2	chr12:60540647..60543131-chr12:62652569..62655278,2	K562	blood:
3	chr12:60540346..60541953-chr12:60546209..60549149,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135655	Chromatin interaction
ENSG00000198673	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10747869	0.92[ASN][1000 genomes]
rs10784031	1.00[ASN][1000 genomes]
rs11173375	0.92[ASN][1000 genomes]
rs11173381	0.92[ASN][1000 genomes]
rs11173388	0.85[ASN][1000 genomes]
rs12296463	1.00[ASN][1000 genomes]
rs12297378	0.92[ASN][1000 genomes]
rs12299963	0.92[ASN][1000 genomes]
rs12307563	0.92[ASN][1000 genomes]
rs12308835	0.92[ASN][1000 genomes]
rs12309540	1.00[ASN][1000 genomes]
rs12317243	1.00[ASN][1000 genomes]
rs12321091	0.92[ASN][1000 genomes]
rs12321390	1.00[ASN][1000 genomes]
rs12322592	0.92[ASN][1000 genomes]
rs1304314	0.92[ASN][1000 genomes]
rs1354471	0.92[ASN][1000 genomes]
rs17123427	0.92[ASN][1000 genomes]
rs17123543	0.92[ASN][1000 genomes]
rs17123549	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17123637	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1948852	0.88[ASN][1000 genomes]
rs2364147	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3902471	0.92[ASN][1000 genomes]
rs4320983	0.92[ASN][1000 genomes]
rs4435040	0.92[ASN][1000 genomes]
rs4520627	0.92[ASN][1000 genomes]
rs4556582	0.92[ASN][1000 genomes]
rs61357417	0.92[ASN][1000 genomes]
rs7132436	0.92[ASN][1000 genomes]
rs7135299	0.92[ASN][1000 genomes]
rs7139186	0.92[ASN][1000 genomes]
rs7297241	0.92[ASN][1000 genomes]
rs7300012	0.92[ASN][1000 genomes]
rs7300515	0.92[ASN][1000 genomes]
rs7309556	1.00[ASN][1000 genomes]
rs7310877	0.92[ASN][1000 genomes]
rs73370703	0.92[ASN][1000 genomes]
rs73370791	0.88[ASN][1000 genomes]
rs7961348	0.85[ASN][1000 genomes]
rs7975734	0.92[ASN][1000 genomes]
rs978912	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428591	chr12:60446360-60631044	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv427913	chr12:60462443-60569344	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2760273	chr12:60489188-60561925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv511495	chr12:60518599-60541932	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv559108	chr12:60518842-60548334	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv1793962	chr12:60522630-60541932	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv1846332	chr12:60522725-60541932	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv1851665	chr12:60522725-60549171	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60540000-60542800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:60540200-60541800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:60540200-60542600	Enhancers	NHDF-Ad	bronchial
4	chr12:60540400-60542000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:60540400-60543400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:60540600-60541800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:60540600-60542400	Enhancers	NHLF	lung
8	chr12:60541200-60542600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr12:60541400-60542000	Enhancers	NH-A	brain
10	chr12:60541400-60542400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:60541400-60542800	Enhancers	HMEC	breast
12	chr12:60541400-60542800	Enhancers	HUVEC	blood vessel
13	chr12:60541400-60542800	Enhancers	NHEK	skin
14	chr12:60541400-60543000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:60541600-60542000	Enhancers	HSMM	muscle
16	chr12:60541600-60542200	Flanking Active TSS	K562	blood
17	chr12:60541600-60542600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:60541600-60542600	Enhancers	Hela-S3	cervix

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