Variant report

Variant	rs847254
Chromosome Location	chr14:72710547-72710548
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs2158986	0.91[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs2158988	0.82[CEU][hapmap];0.88[JPT][hapmap];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2238241	0.86[CEU][hapmap]
rs2529646	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2529647	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs57141704	0.89[ASN][1000 genomes]
rs58600935	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6574054	0.91[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs699360	0.91[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs699361	0.81[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs699362	0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs699368	0.81[ASN][1000 genomes]
rs8022525	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8022968	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs847235	0.94[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs847236	0.86[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs847239	0.81[CEU][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs847240	0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs847250	0.81[CEU][hapmap]
rs847259	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs847262	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs847263	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs847264	0.95[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs847265	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs847266	0.95[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs847267	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs847268	0.95[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs847269	0.86[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs847270	0.86[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs847271	0.86[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs847272	0.86[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs847273	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs847274	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs847275	0.86[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs847276	0.86[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs847277	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs847278	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs847279	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs847302	0.91[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs847305	0.86[CHB][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs847307	0.91[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs847308	0.91[CHB][hapmap];0.88[JPT][hapmap];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs847310	0.86[CHB][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs847313	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs847314	0.91[CHB][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs847318	0.81[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs847319	0.81[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs847321	0.87[CEU][hapmap];0.84[JPT][hapmap];0.81[ASN][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	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
3	nsv1041492	chr14:72634606-72768970	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72699800-72719600	Weak transcription	Right Ventricle	heart
2	chr14:72706600-72721200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:72706800-72712600	Weak transcription	Fetal Kidney	kidney
4	chr14:72709000-72711200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr14:72709800-72710800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr14:72710000-72710600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr14:72710000-72710600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr14:72710000-72710600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr14:72710000-72711000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr14:72710000-72711200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr14:72710000-72711400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr14:72710000-72711400	Enhancers	Fetal Heart	heart
13	chr14:72710200-72710600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr14:72710200-72710600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr14:72710200-72710800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:72710200-72710800	Active TSS	Stomach Smooth Muscle	stomach
17	chr14:72710200-72711000	Enhancers	Colon Smooth Muscle	Colon
18	chr14:72710200-72711400	Enhancers	Fetal Stomach	stomach
19	chr14:72710400-72711000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr14:72710400-72712800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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