Variant report

Variant	rs72843629
Chromosome Location	chr6:27175215-27175216
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr6:27174797-27175230	HepG2	liver:	n/a	chr6:27174940-27174955

No.	Distal block	Cell Line	Cell type
1	chr6:27172666..27175265-chr6:27265465..27267285,2	K562	blood:
2	chr6:27113325..27119101-chr6:27172973..27177922,8	K562	blood:
3	chr6:27170157..27172532-chr6:27173101..27175252,2	MCF-7	breast:
4	chr6:27173443..27175541-chr6:27778725..27781351,2	K562	blood:
5	chr6:27124389..27126074-chr6:27173688..27175728,2	K562	blood:
6	chr6:27164413..27166775-chr6:27172734..27175506,2	K562	blood:

Variant related genes	Relation type
ENSG00000174572	TF binding region
ENSG00000184825	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000265565	Chromatin interaction

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10456349	0.85[ASN][1000 genomes]
rs1062834	0.85[EUR][1000 genomes]
rs10946896	0.85[ASN][1000 genomes]
rs10946900	0.84[ASN][1000 genomes]
rs1102557	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11758615	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11961179	0.85[ASN][1000 genomes]
rs11961181	0.85[ASN][1000 genomes]
rs11962196	0.85[ASN][1000 genomes]
rs11966939	0.85[ASN][1000 genomes]
rs11969887	0.85[ASN][1000 genomes]
rs12153912	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12189835	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12189964	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12190201	0.85[ASN][1000 genomes]
rs12191280	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12192049	0.84[ASN][1000 genomes]
rs12192320	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12192446	0.84[ASN][1000 genomes]
rs12192502	0.85[ASN][1000 genomes]
rs12192766	0.84[ASN][1000 genomes]
rs12192793	0.82[ASN][1000 genomes]
rs12193463	0.85[ASN][1000 genomes]
rs12193511	0.85[ASN][1000 genomes]
rs12193820	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12195041	0.85[ASN][1000 genomes]
rs12195144	0.84[ASN][1000 genomes]
rs12195360	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12196084	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12196889	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12198077	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12200798	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12200985	0.85[ASN][1000 genomes]
rs12201498	0.84[ASN][1000 genomes]
rs12201774	0.84[ASN][1000 genomes]
rs12203145	0.85[ASN][1000 genomes]
rs12203728	0.84[ASN][1000 genomes]
rs12204768	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12205628	0.85[EUR][1000 genomes]
rs12205921	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12206996	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12207614	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12208039	0.85[ASN][1000 genomes]
rs12208534	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12209393	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12209429	0.84[ASN][1000 genomes]
rs12209456	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12209800	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12210905	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12212317	0.85[ASN][1000 genomes]
rs12213361	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12214848	0.84[ASN][1000 genomes]
rs12214930	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12215241	0.82[ASN][1000 genomes]
rs12215773	0.82[ASN][1000 genomes]
rs17345718	0.85[ASN][1000 genomes]
rs2023467	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3531	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3800305	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3800306	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3800310	0.90[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3999221	0.85[ASN][1000 genomes]
rs41269245	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4541737	0.85[ASN][1000 genomes]
rs4636015	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5030955	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5030958	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67153537	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6911234	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6920115	0.85[ASN][1000 genomes]
rs6931711	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6937764	0.85[ASN][1000 genomes]
rs6937955	0.85[ASN][1000 genomes]
rs6940638	0.82[ASN][1000 genomes]
rs72838236	0.85[ASN][1000 genomes]
rs72838238	0.85[ASN][1000 genomes]
rs72838243	0.85[ASN][1000 genomes]
rs72838245	0.85[ASN][1000 genomes]
rs72838249	0.85[ASN][1000 genomes]
rs72838258	0.85[ASN][1000 genomes]
rs72838260	0.85[ASN][1000 genomes]
rs72838262	0.85[ASN][1000 genomes]
rs72838263	0.85[ASN][1000 genomes]
rs72838266	0.84[ASN][1000 genomes]
rs72838268	0.82[ASN][1000 genomes]
rs72842200	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72843607	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72843608	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72843609	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72843611	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72843613	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72843615	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72843619	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72843622	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72843633	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72843640	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72843641	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72843643	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72843644	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7740207	0.85[ASN][1000 genomes]
rs7753123	0.85[ASN][1000 genomes]
rs7753284	0.85[ASN][1000 genomes]
rs7756481	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7773336	0.85[ASN][1000 genomes]
rs858984	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs858985	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs858988	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs858989	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs858992	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs858995	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9348756	0.82[EUR][1000 genomes]
rs9461316	0.85[ASN][1000 genomes]
rs9467942	0.85[ASN][1000 genomes]
rs9467965	0.85[ASN][1000 genomes]
rs9467971	0.85[ASN][1000 genomes]

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	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 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	chr6:27174000-27175800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:27174000-27179600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:27174200-27176200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:27174400-27176000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr6:27174400-27179000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:27174400-27181400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:27174600-27176000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr6:27174800-27176200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr6:27174800-27177000	Weak transcription	K562	blood
10	chr6:27175000-27177000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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