Variant report

Variant	rs10469580
Chromosome Location	chr2:134101774-134101775
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:134101590..134103181-chr2:134107237..134110074,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10165601	0.84[ASN][1000 genomes]
rs10175744	0.84[ASN][1000 genomes]
rs10182402	0.85[ASN][1000 genomes]
rs10182656	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10191826	0.88[ASN][1000 genomes]
rs10928450	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10928451	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11884182	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11890293	0.85[ASN][1000 genomes]
rs12328723	0.82[ASN][1000 genomes]
rs13392963	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13400561	0.87[ASN][1000 genomes]
rs13400743	0.87[ASN][1000 genomes]
rs13406057	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13406354	0.90[ASN][1000 genomes]
rs13407205	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13407503	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13408835	0.85[ASN][1000 genomes]
rs13411233	0.85[ASN][1000 genomes]
rs13414823	0.85[ASN][1000 genomes]
rs13426157	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13426681	0.84[ASN][1000 genomes]
rs13432602	0.97[ASN][1000 genomes]
rs1346776	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs1430165	0.83[ASN][1000 genomes]
rs1430166	0.88[ASN][1000 genomes]
rs1430167	0.82[ASN][1000 genomes]
rs1430168	0.82[ASN][1000 genomes]
rs1435554	0.85[ASN][1000 genomes]
rs1435566	0.82[ASN][1000 genomes]
rs16824301	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs16824303	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17745593	0.85[ASN][1000 genomes]
rs2115864	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2289075	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2304404	0.82[ASN][1000 genomes]
rs28415460	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28445548	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs35892150	0.83[AMR][1000 genomes]
rs4588241	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55788182	0.84[ASN][1000 genomes]
rs56410092	0.82[ASN][1000 genomes]
rs57942569	0.84[ASN][1000 genomes]
rs58029642	0.82[AMR][1000 genomes]
rs58035542	0.84[ASN][1000 genomes]
rs59037048	0.82[ASN][1000 genomes]
rs62177662	0.85[ASN][1000 genomes]
rs62177669	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62180011	0.90[ASN][1000 genomes]
rs62180012	0.90[ASN][1000 genomes]
rs62180016	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62180017	0.85[ASN][1000 genomes]
rs6724854	0.88[EUR][1000 genomes]
rs6724865	0.90[EUR][1000 genomes]
rs7573164	0.82[ASN][1000 genomes]
rs9808364	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9808392	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997821	chr2:133868822-134360220	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535927	chr2:133868822-134360220	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1002488	chr2:133890159-134275312	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv535928	chr2:133890159-134275312	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	esv3375790	chr2:133906915-134222833	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv834384	chr2:134005229-134188648	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1014718	chr2:134067133-134151633	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv522324	chr2:134085665-134174032	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134087400-134103800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:134096200-134104800	Weak transcription	Psoas Muscle	Psoas
3	chr2:134099800-134104800	Enhancers	Hela-S3	cervix
4	chr2:134100800-134105400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:134101600-134103200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:134101600-134105400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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