Variant report

Variant	rs847239
Chromosome Location	chr14:72720464-72720465
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:72720189..72722386-chr14:72732098..72734975,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs2158986	0.94[JPT][hapmap]
rs2158988	0.92[CHD][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs2529646	0.83[ASN][1000 genomes]
rs2529647	0.83[ASN][1000 genomes]
rs58600935	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6574054	0.95[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs699360	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs699361	0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs699362	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs699368	0.99[ASN][1000 genomes]
rs8022525	0.87[ASN][1000 genomes]
rs8022968	0.88[ASN][1000 genomes]
rs847235	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.92[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs847236	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs847240	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs847254	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]
rs847259	0.81[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs847262	0.81[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs847263	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs847264	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs847265	0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs847266	0.83[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs847267	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs847268	0.83[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs847269	0.83[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs847270	0.83[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs847271	0.82[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs847272	0.83[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs847273	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs847274	0.88[ASN][1000 genomes]
rs847275	0.83[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs847276	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs847277	0.88[ASN][1000 genomes]
rs847302	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs847305	0.84[ASN][1000 genomes]
rs847307	0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs847308	0.92[CHD][hapmap];0.80[GIH][hapmap];0.94[JPT][hapmap];0.83[MEX][hapmap];0.84[ASN][1000 genomes]
rs847310	0.83[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs847313	0.80[ASN][1000 genomes]
rs847314	0.92[CHD][hapmap];0.83[JPT][hapmap];0.83[MEX][hapmap]
rs847318	0.87[CHD][hapmap];0.89[JPT][hapmap]
rs847319	0.90[CHD][hapmap];0.89[JPT][hapmap]
rs847321	0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs847336	0.82[ASN][1000 genomes]
rs847365	0.87[CHB][hapmap]

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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72706600-72721200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:72712000-72722200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:72712800-72722600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr14:72718000-72720600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr14:72718000-72721400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr14:72718400-72721200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr14:72718400-72721800	Enhancers	Fetal Heart	heart
8	chr14:72719600-72722000	Enhancers	Left Ventricle	heart
9	chr14:72719600-72723000	Enhancers	Placenta	Placenta
10	chr14:72719800-72721000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:72720000-72721000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:72720000-72721000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr14:72720000-72721000	Weak transcription	Right Ventricle	heart
14	chr14:72720400-72721800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr14:72720400-72722000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr14:72720400-72722000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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