Variant report

Variant	rs2238190
Chromosome Location	chr14:72900604-72900605
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1004477	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.96[ASN][1000 genomes]
rs10132956	0.80[AMR][1000 genomes]
rs10139793	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10145775	1.00[CEU][hapmap]
rs11628490	0.80[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs12436819	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17115503	1.00[CEU][hapmap]
rs17115530	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[ASN][1000 genomes]
rs17115684	1.00[CEU][hapmap]
rs17115702	0.84[ASW][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.96[GIH][hapmap];0.81[MEX][hapmap];0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17115708	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs17115950	1.00[CEU][hapmap]
rs17116023	1.00[CEU][hapmap]
rs17116029	1.00[CEU][hapmap]
rs17116069	1.00[CEU][hapmap]
rs17116212	1.00[CEU][hapmap]
rs17116237	1.00[CEU][hapmap]
rs17116276	1.00[CEU][hapmap]
rs17116292	1.00[CEU][hapmap]
rs17116396	1.00[CEU][hapmap]
rs17116464	1.00[CEU][hapmap]
rs1860152	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2007903	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2238182	0.82[JPT][hapmap]
rs2239211	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs28428926	0.82[ASN][1000 genomes]
rs3784046	1.00[CEU][hapmap]
rs3819548	0.89[MEX][hapmap];0.85[AMR][1000 genomes]
rs4396472	0.87[AMR][1000 genomes]
rs4903019	0.81[ASN][1000 genomes]
rs4903020	0.80[CHB][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs4903022	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4903023	0.82[JPT][hapmap]
rs58470149	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs58482573	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs7143134	0.83[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7159438	0.82[JPT][hapmap]
rs7160223	0.82[JPT][hapmap]
rs719064	0.80[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs740536	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8022670	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72891000-72908600	Weak transcription	Left Ventricle	heart
2	chr14:72895400-72901000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:72899000-72901200	Weak transcription	Dnd41	blood
4	chr14:72899200-72901600	Weak transcription	HSMMtube	muscle
5	chr14:72900400-72900800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:72900400-72902800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr14:72900600-72901200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:72900600-72901400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr14:72900600-72901600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr14:72900600-72902600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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