Variant report

Variant	rs4950056
Chromosome Location	chr1:95547919-95547920
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:95538304..95542687-chr1:95547314..95551412,4	K562	blood:
2	chr1:95544414..95547978-chr1:95549348..95553409,4	K562	blood:
3	chr1:95545358..95548450-chr1:95548611..95551467,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172339	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10735790	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10782996	0.80[ASN][1000 genomes]
rs10874902	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11165299	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11585462	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11591183	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12563592	0.82[EUR][1000 genomes]
rs12569038	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12569207	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12741128	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12748237	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12751774	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2766010	0.85[AMR][1000 genomes]
rs2766011	0.82[AMR][1000 genomes]
rs2797622	0.85[AMR][1000 genomes]
rs34280926	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35678413	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35888232	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4309032	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4339907	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4390223	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4630159	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4847220	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4949965	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4950057	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4950058	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61774262	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6675668	0.86[ASN][1000 genomes]
rs6683112	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6687388	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6687450	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6698046	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9437665	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9437672	0.89[ASN][1000 genomes]
rs9437689	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9437810	0.89[ASN][1000 genomes]
rs9437812	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9437813	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9661031	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[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	nsv830636	chr1:95495849-95703126	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95539800-95549000	Weak transcription	K562	blood
2	chr1:95542000-95549600	Weak transcription	HepG2	liver
3	chr1:95546400-95550600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr1:95546600-95550400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr1:95546600-95552000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:95546800-95548800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:95546800-95550400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:95546800-95550400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr1:95546800-95550600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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