Variant report

Variant	rs73120270
Chromosome Location	chr1:223383700-223383701
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	chr1:223382291..223385274-chr1:223429285..223430974,2	MCF-7	breast:
4	chr1:223382567..223385980-chr1:223405719..223408418,3	K562	blood:
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	chr1:223350173..223351734-chr1:223383258..223385619,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000187554	Chromatin interaction
ENSG00000236846	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1019278	1.00[AMR][1000 genomes]
rs11488546	1.00[AMR][1000 genomes]
rs1341287	1.00[AMR][1000 genomes]
rs1713218	1.00[AMR][1000 genomes]
rs2253649	1.00[AMR][1000 genomes]
rs2487832	1.00[AMR][1000 genomes]
rs28584917	1.00[AMR][1000 genomes]
rs34071437	0.87[AFR][1000 genomes]
rs5744162	1.00[AMR][1000 genomes]
rs61737415	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73113929	1.00[AMR][1000 genomes]
rs73113937	1.00[AMR][1000 genomes]
rs73113940	1.00[AMR][1000 genomes]
rs73115872	1.00[AMR][1000 genomes]
rs73115888	1.00[AMR][1000 genomes]
rs73118103	1.00[AMR][1000 genomes]
rs73118104	1.00[AMR][1000 genomes]
rs73118106	1.00[AMR][1000 genomes]
rs73118108	1.00[AMR][1000 genomes]
rs73118111	1.00[AMR][1000 genomes]
rs73118118	1.00[AMR][1000 genomes]
rs73118120	1.00[AMR][1000 genomes]
rs73118121	1.00[AMR][1000 genomes]
rs73120209	1.00[AMR][1000 genomes]
rs73120240	1.00[AMR][1000 genomes]
rs73120248	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73120250	0.87[AFR][1000 genomes]
rs73120252	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73120261	0.87[AFR][1000 genomes]
rs73120265	0.87[AFR][1000 genomes]
rs73120271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73120274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73120283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73120288	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73122203	1.00[AMR][1000 genomes]
rs73122204	1.00[AMR][1000 genomes]
rs73122205	1.00[AMR][1000 genomes]
rs73122207	1.00[AMR][1000 genomes]
rs73122216	1.00[AMR][1000 genomes]
rs73122222	1.00[AMR][1000 genomes]
rs73122236	1.00[AMR][1000 genomes]
rs73122239	1.00[AMR][1000 genomes]
rs73124222	1.00[AMR][1000 genomes]
rs825119	1.00[AMR][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:13 , 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	chr1:223381400-223389400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:223382400-223384800	Enhancers	K562	blood
6	chr1:223382400-223384800	Weak transcription	NH-A	brain
7	chr1:223382600-223384400	Weak transcription	HSMM	muscle
8	chr1:223383000-223384400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr1:223383200-223383800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:223383200-223384800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:223383200-223385200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:223383600-223384000	Weak transcription	Ovary	ovary
13	chr1:223383600-223386400	Enhancers	HSMMtube	muscle

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