Variant report

Variant	rs10753413
Chromosome Location	chr1:223848598-223848599
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:223846868..223849308-chr1:223851212..223853858,2	K562	blood:
2	chr1:223837812..223840547-chr1:223845364..223849589,4	K562	blood:
3	chr1:223843142..223845522-chr1:223848017..223849601,2	K562	blood:
4	chr1:223846678..223849774-chr1:223851871..223853598,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000203697	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10915947	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10916005	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10916014	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11577934	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11580006	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11582415	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11583147	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11584107	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11584610	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11585533	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12729023	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12754440	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1419306	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1419308	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1419309	0.93[EUR][1000 genomes]
rs17483822	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1954502	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34159375	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34443759	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34989593	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35032576	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs36072692	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60841677	0.88[AMR][1000 genomes];0.93[EUR][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	nsv832681	chr1:223698048-224002691	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv873210	chr1:223707647-223856414	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv873211	chr1:223707647-223867631	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1000199	chr1:223803545-223854859	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv873212	chr1:223807262-223853792	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223833600-223850800	Weak transcription	Colonic Mucosa	Colon
2	chr1:223838200-223850800	Weak transcription	Fetal Stomach	stomach
3	chr1:223840600-223853200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:223843600-223851000	Weak transcription	Gastric	stomach
5	chr1:223843800-223850600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr1:223847600-223850400	Weak transcription	Stomach Mucosa	stomach
7	chr1:223848200-223853000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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