Variant report

Variant	rs72967397
Chromosome Location	chr1:94317356-94317357
allele	C/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	MEF2A	chr1:94316847-94317368	K562	blood:	n/a	chr1:94317174-94317195 chr1:94317175-94317190 chr1:94317187-94317201 chr1:94317143-94317154 chr1:94317140-94317155 chr1:94317178-94317189 chr1:94317174-94317195 chr1:94317175-94317186
2	MAX	chr1:94317064-94317413	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:94317132..94317632-chr11:62648068..62648876,2	NB4	blood:
2	chr1:94315633..94319063-chr1:94342848..94345734,4	K562	blood:
3	chr1:94313358..94316025-chr1:94316812..94319394,2	MCF-7	breast:
4	chr1:94085637..94087323-chr1:94315969..94317684,2	MCF-7	breast:
5	chr1:94309833..94313487-chr1:94314841..94317688,5	K562	blood:

Variant related genes	Relation type
BCAR3	TF binding region
ENSG00000211575	Chromatin interaction
ENSG00000067334	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000137936	Chromatin interaction
ENSG00000260464	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10489605	0.81[ASN][1000 genomes]
rs10874795	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164994	0.91[ASN][1000 genomes]
rs11165001	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11165019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12076307	0.94[EUR][1000 genomes]
rs12079584	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12239830	0.97[ASN][1000 genomes]
rs17100397	0.97[ASN][1000 genomes]
rs17110394	0.96[EUR][1000 genomes]
rs17110408	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17304770	0.97[ASN][1000 genomes]
rs17878271	0.81[ASN][1000 genomes]
rs17878294	0.81[ASN][1000 genomes]
rs17881810	0.81[ASN][1000 genomes]
rs17884788	0.81[ASN][1000 genomes]
rs17885151	0.81[ASN][1000 genomes]
rs17886352	0.81[ASN][1000 genomes]
rs2223908	0.91[ASN][1000 genomes]
rs3761913	0.81[ASN][1000 genomes]
rs4526623	0.96[EUR][1000 genomes]
rs4615846	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57870303	0.91[ASN][1000 genomes]
rs61425457	0.97[ASN][1000 genomes]
rs61781054	0.91[ASN][1000 genomes]
rs61781055	0.91[ASN][1000 genomes]
rs61781056	0.91[ASN][1000 genomes]
rs61781057	0.91[ASN][1000 genomes]
rs61782162	0.81[ASN][1000 genomes]
rs61782163	0.81[ASN][1000 genomes]
rs61782164	0.81[ASN][1000 genomes]
rs61782165	0.81[ASN][1000 genomes]
rs61782398	0.91[ASN][1000 genomes]
rs61782399	0.91[ASN][1000 genomes]
rs61782400	0.91[ASN][1000 genomes]
rs61782403	0.97[ASN][1000 genomes]
rs61782404	0.97[ASN][1000 genomes]
rs61782405	0.97[ASN][1000 genomes]
rs61782410	0.97[ASN][1000 genomes]
rs61782413	0.97[ASN][1000 genomes]
rs61782449	0.87[ASN][1000 genomes]
rs61782450	0.97[ASN][1000 genomes]
rs61782451	0.91[ASN][1000 genomes]
rs61782452	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61782458	0.81[ASN][1000 genomes]
rs61782459	0.81[ASN][1000 genomes]
rs6541394	0.96[EUR][1000 genomes]
rs6660794	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6671839	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6674149	0.91[ASN][1000 genomes]
rs6689215	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6689746	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6703468	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs717913	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72723114	0.91[ASN][1000 genomes]
rs72723118	0.91[ASN][1000 genomes]
rs72723125	0.91[ASN][1000 genomes]
rs72723138	0.91[ASN][1000 genomes]
rs72723157	0.97[ASN][1000 genomes]
rs72723165	0.97[ASN][1000 genomes]
rs72723169	0.91[ASN][1000 genomes]
rs72723178	0.81[ASN][1000 genomes]
rs7555914	0.96[EUR][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	esv1822452	chr1:94278128-94320233	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	121 gene(s)	inside rSNPs	diseases
2	nsv998755	chr1:94294015-94341712	Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	121 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94314200-94332800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr1:94314200-94334200	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr1:94314200-94334400	Weak transcription	Brain Substantia Nigra	brain
4	chr1:94316400-94318200	Weak transcription	Hela-S3	cervix

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