Variant report

Variant	rs10253512
Chromosome Location	chr7:120223930-120223931
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10085583	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10156125	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10224280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10224891	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10227379	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10228326	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10234674	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs10239065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10242908	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10243095	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10245675	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10247657	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10248007	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10257987	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10259436	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10260490	1.00[JPT][hapmap];0.82[YRI][hapmap]
rs10261574	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10262476	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10265695	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10270560	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10270911	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10272611	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10272979	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10273127	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10273242	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10277086	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10278264	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10282150	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10488302	1.00[CEU][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11536582	1.00[CHB][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12111645	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12111791	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12171571	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13438753	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1527650	0.82[ASN][1000 genomes]
rs1527654	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1609181	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs16870516	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17142782	0.81[YRI][hapmap]
rs17142844	1.00[EUR][1000 genomes]
rs17142852	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17142856	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17142860	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17283053	1.00[EUR][1000 genomes]
rs17347436	1.00[EUR][1000 genomes]
rs17355253	1.00[EUR][1000 genomes]
rs2049643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28454884	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4540347	1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs60967957	1.00[EUR][1000 genomes]
rs6466749	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6970111	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6970412	1.00[JPT][hapmap]
rs6978574	1.00[JPT][hapmap];0.82[YRI][hapmap]
rs73441852	1.00[EUR][1000 genomes]
rs7357188	1.00[JPT][hapmap];0.82[YRI][hapmap]
rs7357256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7808927	1.00[CHB][hapmap];0.88[YRI][hapmap];0.86[ASN][1000 genomes]
rs9640793	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9641643	1.00[CHB][hapmap]
rs9641644	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9641645	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9886093	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9886190	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9886214	1.00[JPT][hapmap]

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	nsv889117	chr7:120122040-120266458	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10253512	KCND2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120220200-120227200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:120220600-120224600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:120220800-120225200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr7:120220800-120226000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:120222000-120224600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:120223000-120224600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr7:120223200-120225200	Enhancers	HUVEC	blood vessel
8	chr7:120223400-120224200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr7:120223400-120224600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:120223400-120224600	Enhancers	HMEC	breast
11	chr7:120223400-120224800	Enhancers	HSMM	muscle
12	chr7:120223400-120224800	Enhancers	NH-A	brain
13	chr7:120223600-120224400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr7:120223600-120224400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr7:120223600-120224600	Enhancers	HSMMtube	muscle
16	chr7:120223600-120224600	Enhancers	NHEK	skin
17	chr7:120223600-120224800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:120223600-120224800	Enhancers	Hela-S3	cervix
19	chr7:120223800-120224000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:120223800-120224800	Enhancers	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links