Variant report

Variant	rs2730825
Chromosome Location	chr12:41904055-41904056
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:41903994..41905628-chr12:41905672..41908634,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10880077	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12298084	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299762	0.93[EUR][1000 genomes]
rs12313532	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12314473	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12322329	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12423463	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs12424813	1.00[ASN][1000 genomes]
rs12817240	1.00[ASN][1000 genomes]
rs12826427	1.00[ASN][1000 genomes]
rs12826692	1.00[ASN][1000 genomes]
rs12828934	1.00[ASN][1000 genomes]
rs169564	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2254521	0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2446145	1.00[CEU][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2468312	0.83[EUR][1000 genomes]
rs2599254	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2608698	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608699	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608713	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608717	0.82[EUR][1000 genomes]
rs2730812	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2730815	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2730831	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2730832	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2733288	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs285551	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs285552	0.82[EUR][1000 genomes]
rs285553	0.82[EUR][1000 genomes]
rs285554	0.83[EUR][1000 genomes]
rs285558	0.82[EUR][1000 genomes]
rs285559	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs285570	0.83[EUR][1000 genomes]
rs285571	0.83[EUR][1000 genomes]
rs285572	0.83[EUR][1000 genomes]
rs285573	0.83[EUR][1000 genomes]
rs285588	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs285594	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs285596	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs285597	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs287087	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34753427	1.00[ASN][1000 genomes]
rs35366617	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35487549	1.00[ASN][1000 genomes]
rs392217	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7133340	0.93[EUR][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	nsv832384	chr12:41772648-41971430	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3337301	chr12:41851654-42093677	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv826349	chr12:41878846-41911495	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41869600-41905200	Weak transcription	Colon Smooth Muscle	Colon
2	chr12:41898600-41915400	Weak transcription	Aorta	Aorta
3	chr12:41899000-41906000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr12:41902000-41909400	Enhancers	Brain Germinal Matrix	brain
5	chr12:41902200-41908000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr12:41902400-41907400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:41902400-41907800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr12:41902400-41915000	Weak transcription	Brain Anterior Caudate	brain
9	chr12:41902600-41907600	Weak transcription	Brain Substantia Nigra	brain
10	chr12:41902600-41907800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr12:41902600-41907800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:41903400-41904600	Weak transcription	Brain Hippocampus Middle	brain
13	chr12:41903600-41904400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:41903800-41905000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:41903800-41907400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:41904000-41904400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr12:41904000-41904400	Weak transcription	Fetal Kidney	kidney

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