Variant report

Variant	rs73033131
Chromosome Location	chr1:173639766-173639767
allele	A/C
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	TEAD4	chr1:173639670-173640803	K562	blood:	n/a	n/a
2	BHLHE40	chr1:173639684-173640795	K562	blood:	n/a	n/a
3	STAT2	chr1:173639357-173640742	K562	blood:	n/a	chr1:173640256-173640271
4	GATA1	chr1:173638688-173640797	K562	blood:	n/a	n/a
5	MYC	chr1:173639681-173640732	K562	blood:	n/a	n/a
6	STAT1	chr1:173639729-173640631	K562	blood:	n/a	n/a
7	ZNF274	chr1:173639566-173640053	K562	blood:	n/a	n/a
8	EP300	chr1:173639755-173640665	K562	blood:	n/a	n/a
9	STAT2	chr1:173639729-173640648	K562	blood:	n/a	chr1:173640256-173640271
10	CUX1	chr1:173639417-173640605	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:173639722..173641847-chr1:173856843..173859341,2	K562	blood:
2	chr1:173637673..173640570-chr1:173793761..173795459,2	K562	blood:
3	chr1:173634842..173636902-chr1:173639549..173641507,2	K562	blood:
4	chr1:173637673..173644505-chr1:173792419..173795621,6	K562	blood:

Variant related genes	Relation type
ANKRD45	TF binding region
ENSG00000120334	Chromatin interaction
ENSG00000117593	Chromatin interaction

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10127525	0.95[AMR][1000 genomes]
rs10157215	1.00[EUR][1000 genomes]
rs10157218	1.00[EUR][1000 genomes]
rs10157371	1.00[EUR][1000 genomes]
rs10157384	1.00[EUR][1000 genomes]
rs10157684	1.00[EUR][1000 genomes]
rs10158034	0.95[AMR][1000 genomes]
rs10158197	1.00[EUR][1000 genomes]
rs10158568	1.00[EUR][1000 genomes]
rs10399912	1.00[EUR][1000 genomes]
rs10489892	1.00[EUR][1000 genomes]
rs10489893	1.00[EUR][1000 genomes]
rs10912654	0.95[AMR][1000 genomes]
rs10912657	0.95[AMR][1000 genomes]
rs10912659	0.95[AMR][1000 genomes]
rs10912668	1.00[EUR][1000 genomes]
rs10912674	1.00[EUR][1000 genomes]
rs10912681	1.00[EUR][1000 genomes]
rs10912687	1.00[EUR][1000 genomes]
rs10912688	1.00[EUR][1000 genomes]
rs10912693	1.00[EUR][1000 genomes]
rs10912699	1.00[EUR][1000 genomes]
rs10912700	1.00[EUR][1000 genomes]
rs1135333	1.00[EUR][1000 genomes]
rs11487390	1.00[EUR][1000 genomes]
rs12057440	1.00[EUR][1000 genomes]
rs12058218	0.90[AMR][1000 genomes]
rs12059066	0.95[AMR][1000 genomes]
rs12059068	0.95[AMR][1000 genomes]
rs12059157	0.95[AMR][1000 genomes]
rs12060967	1.00[EUR][1000 genomes]
rs12066494	0.95[AMR][1000 genomes]
rs12068135	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12074044	0.90[AMR][1000 genomes]
rs12075335	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12075679	0.89[AMR][1000 genomes]
rs12076223	0.95[AMR][1000 genomes]
rs12078471	1.00[EUR][1000 genomes]
rs12079027	0.95[AMR][1000 genomes]
rs12079161	0.95[AMR][1000 genomes]
rs12079240	1.00[EUR][1000 genomes]
rs12079315	1.00[EUR][1000 genomes]
rs12081137	1.00[EUR][1000 genomes]
rs12081220	0.89[AMR][1000 genomes]
rs12083064	1.00[EUR][1000 genomes]
rs12083635	0.90[AMR][1000 genomes]
rs12084213	1.00[EUR][1000 genomes]
rs12084685	0.89[AMR][1000 genomes]
rs12086687	1.00[EUR][1000 genomes]
rs12087885	0.95[AMR][1000 genomes]
rs12087918	0.95[AMR][1000 genomes]
rs12090440	1.00[EUR][1000 genomes]
rs12090507	1.00[EUR][1000 genomes]
rs12091486	0.95[AMR][1000 genomes]
rs12093198	0.95[AMR][1000 genomes]
rs12093624	1.00[EUR][1000 genomes]
rs12094752	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12094912	1.00[EUR][1000 genomes]
rs12096136	0.95[AMR][1000 genomes]
rs12164490	0.95[AMR][1000 genomes]
rs1322773	1.00[EUR][1000 genomes]
rs13375322	0.95[AMR][1000 genomes]
rs1461016	0.95[AMR][1000 genomes]
rs1461017	0.95[AMR][1000 genomes]
rs1461018	0.95[AMR][1000 genomes]
rs1570385	1.00[EUR][1000 genomes]
rs16846288	0.89[AMR][1000 genomes]
rs16846395	1.00[EUR][1000 genomes]
rs16846398	1.00[EUR][1000 genomes]
rs1903410	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1903411	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2227611	1.00[EUR][1000 genomes]
rs2227622	1.00[EUR][1000 genomes]
rs28767926	0.95[AMR][1000 genomes]
rs28853918	1.00[EUR][1000 genomes]
rs56036053	0.84[AMR][1000 genomes]
rs56157228	0.84[AMR][1000 genomes]
rs56195767	1.00[EUR][1000 genomes]
rs57586767	1.00[EUR][1000 genomes]
rs57609710	0.84[AMR][1000 genomes]
rs58045923	0.86[AMR][1000 genomes]
rs59054917	0.90[AMR][1000 genomes]
rs59090917	1.00[EUR][1000 genomes]
rs59332560	1.00[EUR][1000 genomes]
rs60047664	1.00[EUR][1000 genomes]
rs6425256	1.00[EUR][1000 genomes]
rs6666475	0.95[AMR][1000 genomes]
rs6668650	0.95[AMR][1000 genomes]
rs6675955	0.95[AMR][1000 genomes]
rs6677292	0.95[AMR][1000 genomes]
rs6678784	0.95[AMR][1000 genomes]
rs6682615	0.95[AMR][1000 genomes]
rs6684147	1.00[EUR][1000 genomes]
rs6686370	0.84[AMR][1000 genomes]
rs6690869	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6700712	0.95[AMR][1000 genomes]
rs727925	0.82[AMR][1000 genomes]
rs73033123	0.95[AMR][1000 genomes]
rs74126415	1.00[EUR][1000 genomes]
rs7518601	0.95[AMR][1000 genomes]
rs7556211	1.00[EUR][1000 genomes]
rs874342	1.00[EUR][1000 genomes]
rs9425413	1.00[EUR][1000 genomes]
rs9425414	1.00[EUR][1000 genomes]
rs9425427	1.00[EUR][1000 genomes]
rs9425735	1.00[EUR][1000 genomes]
rs9425768	1.00[EUR][1000 genomes]
rs9803675	0.95[AMR][1000 genomes]
rs9803677	0.95[AMR][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	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173630600-173646600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:173639000-173657200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:173639200-173639800	Enhancers	H1 Cell Line	embryonic stem cell
4	chr1:173639200-173639800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:173639200-173639800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr1:173639200-173641400	Weak transcription	Right Atrium	heart
7	chr1:173639400-173639800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
8	chr1:173639400-173639800	Enhancers	Brain Anterior Caudate	brain
9	chr1:173639400-173640000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:173639400-173640200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:173639600-173639800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:173639600-173640600	Flanking Active TSS	K562	blood

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