Variant report

Variant	rs73120269
Chromosome Location	chr1:223382461-223382462
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:223315532..223318469-chr1:223381857..223384690,2	K562	blood:
2	chr1:223382157..223383786-chr1:223386529..223388710,2	K562	blood:
3	chr1:223315507..223317188-chr1:223381092..223383270,2	K562	blood:
4	chr1:223382291..223385274-chr1:223429285..223430974,2	MCF-7	breast:
5	chr1:223374480..223376570-chr1:223382430..223385148,2	MCF-7	breast:
6	chr1:223314181..223317569-chr1:223381878..223385433,3	MCF-7	breast:
7	chr1:223347406..223350324-chr1:223382149..223383994,2	K562	blood:
8	chr1:223380921..223383120-chr1:223521452..223523645,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000187554	Chromatin interaction
ENSG00000236846	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11485986	0.98[ASN][1000 genomes]
rs1612521	0.91[ASN][1000 genomes]
rs1640803	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1773719	0.91[ASN][1000 genomes]
rs1773722	0.91[ASN][1000 genomes]
rs1773723	0.91[ASN][1000 genomes]
rs2160152	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2430407	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2430408	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2430409	1.00[EUR][1000 genomes]
rs2430410	0.91[ASN][1000 genomes]
rs3121256	1.00[ASN][1000 genomes]
rs34071437	1.00[EUR][1000 genomes]
rs34218350	1.00[EUR][1000 genomes]
rs35227692	1.00[EUR][1000 genomes]
rs35412940	0.86[EUR][1000 genomes]
rs35551279	1.00[EUR][1000 genomes]
rs35778136	1.00[EUR][1000 genomes]
rs35797130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3768284	0.95[ASN][1000 genomes]
rs4661283	0.91[ASN][1000 genomes]
rs4661284	0.91[ASN][1000 genomes]
rs712862	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs712863	1.00[ASN][1000 genomes]
rs712865	1.00[ASN][1000 genomes]
rs725972	0.91[ASN][1000 genomes]
rs73118166	0.86[EUR][1000 genomes]
rs73118168	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73118170	0.86[EUR][1000 genomes]
rs73118175	0.86[EUR][1000 genomes]
rs73120206	0.86[EUR][1000 genomes]
rs73120222	0.86[EUR][1000 genomes]
rs73120234	0.86[EUR][1000 genomes]
rs73120236	1.00[EUR][1000 genomes]
rs73120250	1.00[EUR][1000 genomes]
rs73120253	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73120257	1.00[EUR][1000 genomes]
rs73120261	1.00[EUR][1000 genomes]
rs73120265	1.00[EUR][1000 genomes]
rs73120267	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73120297	1.00[EUR][1000 genomes]
rs851140	0.86[EUR][1000 genomes]
rs851144	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs851145	1.00[EUR][1000 genomes]
rs851146	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs851147	0.86[EUR][1000 genomes]
rs851148	1.00[EUR][1000 genomes]
rs851150	1.00[EUR][1000 genomes]
rs851151	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs851152	1.00[EUR][1000 genomes]
rs851154	1.00[EUR][1000 genomes]
rs851155	1.00[EUR][1000 genomes]
rs851156	0.86[EUR][1000 genomes]
rs851158	1.00[EUR][1000 genomes]
rs851160	1.00[ASN][1000 genomes]
rs851163	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	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832659	chr1:223294767-223438487	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223371200-223389800	Weak transcription	Gastric	stomach
2	chr1:223377000-223392200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr1:223379600-223388000	Enhancers	Fetal Muscle Leg	muscle
4	chr1:223380800-223382600	Enhancers	HSMM	muscle
5	chr1:223381400-223382600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr1:223381400-223383200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:223381400-223389400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:223381600-223383600	Enhancers	Ovary	ovary
9	chr1:223382000-223382800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:223382200-223382600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr1:223382200-223382600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr1:223382200-223382600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr1:223382200-223382600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr1:223382200-223383200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:223382400-223382800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr1:223382400-223383000	Enhancers	Fetal Lung	lung
17	chr1:223382400-223383600	Weak transcription	HSMMtube	muscle
18	chr1:223382400-223384800	Enhancers	K562	blood
19	chr1:223382400-223384800	Weak transcription	NH-A	brain

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