Variant report

Variant	rs4354508
Chromosome Location	chr1:184334166-184334167
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184327611..184330372-chr1:184331382..184334193,2	K562	blood:
2	chr1:184333608..184335911-chr1:184337854..184340394,2	K562	blood:
3	chr1:184316938..184318894-chr1:184333798..184336132,2	MCF-7	breast:
4	chr1:184331739..184334250-chr1:184353460..184356354,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271387	Chromatin interaction
ENSG00000116667	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10911582	1.00[ASN][1000 genomes]
rs12082456	1.00[ASN][1000 genomes]
rs12083933	1.00[ASN][1000 genomes]
rs12723932	1.00[ASN][1000 genomes]
rs12726204	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12727991	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12735278	1.00[ASN][1000 genomes]
rs12735902	1.00[ASN][1000 genomes]
rs12743066	1.00[ASN][1000 genomes]
rs12743488	1.00[ASN][1000 genomes]
rs12746499	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12756084	0.88[EUR][1000 genomes]
rs12756319	1.00[ASN][1000 genomes]
rs13374609	1.00[ASN][1000 genomes]
rs1547608	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2180075	1.00[ASN][1000 genomes]
rs34072105	1.00[ASN][1000 genomes]
rs34282348	0.84[EUR][1000 genomes]
rs34312759	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34427261	1.00[ASN][1000 genomes]
rs34579903	1.00[ASN][1000 genomes]
rs34591137	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34712320	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34946851	1.00[ASN][1000 genomes]
rs35021091	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35040136	1.00[ASN][1000 genomes]
rs35350002	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35414247	1.00[ASN][1000 genomes]
rs35430213	1.00[ASN][1000 genomes]
rs35782682	1.00[ASN][1000 genomes]
rs35901887	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35964209	0.88[EUR][1000 genomes]
rs35999930	1.00[ASN][1000 genomes]
rs3886022	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4275415	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4332324	1.00[ASN][1000 genomes]
rs4390140	1.00[ASN][1000 genomes]
rs4466608	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4650665	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4650668	1.00[ASN][1000 genomes]
rs4651204	1.00[ASN][1000 genomes]
rs4651212	1.00[ASN][1000 genomes]
rs4651222	1.00[ASN][1000 genomes]
rs59079733	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6659461	0.98[EUR][1000 genomes]
rs66916459	1.00[ASN][1000 genomes]
rs71634105	1.00[ASN][1000 genomes]
rs71634106	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71634108	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71634109	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74131654	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74131659	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7531736	1.00[ASN][1000 genomes]
rs9970629	1.00[ASN][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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv3821	chr1:184319543-184365236	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr1:184331600-184334200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:184332400-184335800	Weak transcription	Osteobl	bone
3	chr1:184332600-184336000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:184332800-184336000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:184332800-184336400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr1:184333200-184336200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr1:184333800-184335800	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:184333800-184336200	Weak transcription	Psoas Muscle	Psoas
9	chr1:184333800-184336800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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