Variant report

Variant	rs10916576
Chromosome Location	chr1:223885593-223885594
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:223885577-223886678	SK-N-SH	brain:	n/a	chr1:223886105-223886118 chr1:223886070-223886088
2	SMC3	chr1:223885563-223886572	SK-N-SH	brain:	n/a	chr1:223886108-223886118
3	CTCF	chr1:223885576-223886576	HCT-116	colon:	n/a	chr1:223886105-223886118 chr1:223886070-223886088
4	CTCF	chr1:223885573-223886495	A549	lung:	n/a	chr1:223886105-223886118 chr1:223886070-223886088
5	CTCF	chr1:223885560-223885710	AG04450	lung:	n/a	n/a
6	CHD1	chr1:223885488-223886486	IMR90	lung:	n/a	n/a
7	RAD21	chr1:223885583-223886545	SK-N-SH	brain:	n/a	chr1:223886072-223886086

No.	Distal block	Cell Line	Cell type
1	chr1:223885504..223886208-chr1:223998852..223999726,2	MCF-7	breast:
2	chr1:223885511..223886611-chr1:223936562..223937549,9	K562	blood:
3	chr1:223884772..223887549-chr1:223936018..223938654,2	MCF-7	breast:
4	chr1:223884407..223886063-chr1:223901694..223904527,2	K562	blood:
5	chr1:223884441..223887114-chr1:223935723..223937532,2	MCF-7	breast:
6	chr1:223882685..223886008-chr1:223887424..223890701,3	MCF-7	breast:
7	chr1:223885547..223886225-chr1:224520929..224521680,2	MCF-7	breast:
8	chr1:223884342..223885890-chr1:223887258..223888847,2	K562	blood:
9	chr1:223885488..223886561-chr1:224644979..224645876,5	K562	blood:

Variant related genes	Relation type
CAPN2	TF binding region
ENSG00000162909	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12057708	0.83[AMR][1000 genomes]
rs2000320	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2275877	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	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
4	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
5	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS 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	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223876400-223885600	Weak transcription	A549	lung
2	chr1:223881800-223887000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:223883600-223887800	Weak transcription	Fetal Intestine Small	intestine
4	chr1:223883800-223887600	Weak transcription	Fetal Intestine Large	intestine
5	chr1:223884000-223888400	Weak transcription	Right Atrium	heart
6	chr1:223884200-223885600	Weak transcription	NHLF	lung
7	chr1:223884200-223885800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:223884200-223885800	Weak transcription	HSMM	muscle
9	chr1:223884200-223885800	Weak transcription	Osteobl	bone
10	chr1:223884200-223886200	Weak transcription	NH-A	brain
11	chr1:223884200-223887600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr1:223884200-223888000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:223884400-223885800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:223884400-223885800	Weak transcription	K562	blood
15	chr1:223884400-223886200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:223884400-223886200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:223884400-223886400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:223884400-223887400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:223884400-223888400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr1:223884400-223888800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:223884400-223888800	Weak transcription	Pancreas	Pancrea
22	chr1:223884600-223885800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr1:223884600-223886800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:223884800-223886000	Weak transcription	Primary B cells from peripheral blood	blood

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