Variant report

Variant	rs73145105
Chromosome Location	chr3:24725739-24725740
allele	C/T
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	chr3:24724893-24725915	A549	lung:	n/a	chr3:24725454-24725472 chr3:24725457-24725467 chr3:24725456-24725469 chr3:24725455-24725471 chr3:24725449-24725470
2	CTCF	chr3:24725200-24725777	HCT-116	colon:	n/a	chr3:24725454-24725472 chr3:24725457-24725467 chr3:24725456-24725469 chr3:24725455-24725471 chr3:24725449-24725470
3	RAD21	chr3:24725178-24725744	ECC-1	luminal epithelium:	n/a	chr3:24725452-24725471 chr3:24725455-24725468
4	RAD21	chr3:24725097-24725751	HCT-116	colon:	n/a	chr3:24725452-24725471 chr3:24725455-24725468
5	CTCF	chr3:24725087-24725838	SK-N-SH	brain:	n/a	chr3:24725454-24725472 chr3:24725457-24725467 chr3:24725456-24725469 chr3:24725455-24725471 chr3:24725449-24725470
6	RAD21	chr3:24725186-24725741	A549	lung:	n/a	chr3:24725452-24725471 chr3:24725455-24725468

No.	Distal block	Cell Line	Cell type
1	chr3:24723921..24726811-chr3:24729010..24731605,2	MCF-7	breast:
2	chr3:23960325..23963916-chr3:24723703..24727555,4	MCF-7	breast:
3	chr3:24681218..24682181-chr3:24725071..24725960,2	MCF-7	breast:
4	chr3:24129965..24130904-chr3:24724999..24725940,3	K562	blood:
5	chr3:24624079..24624666-chr3:24725432..24726214,2	MCF-7	breast:
6	chr3:24040167..24041064-chr3:24724982..24725943,2	K562	blood:
7	chr3:24279555..24280153-chr3:24725005..24725918,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000237838	TF binding region
ENSG00000237838	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs4449259	1.00[AMR][1000 genomes]
rs4858124	1.00[AMR][1000 genomes]
rs4858642	1.00[AMR][1000 genomes]
rs60729703	1.00[AMR][1000 genomes]
rs73145108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73145167	1.00[AMR][1000 genomes]
rs73145173	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757862	chr3:24652513-24942926	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2759135	chr3:24652513-24942926	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1005314	chr3:24690692-24813960	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv589950	chr3:24694021-24816974	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv2756981	chr3:24725003-24813960	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv967212	chr3:24725627-24759272	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24704200-24726000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:24721400-24726000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:24722200-24726000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr3:24724600-24726600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr3:24724800-24726000	Enhancers	A549	lung
6	chr3:24725200-24726000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr3:24725200-24726200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr3:24725200-24726600	Enhancers	Psoas Muscle	Psoas
9	chr3:24725200-24726600	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr3:24725200-24726600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr3:24725200-24726800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr3:24725200-24727800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:24725400-24725800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr3:24725400-24726600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr3:24725400-24727400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:24725400-24727600	Weak transcription	Colon Smooth Muscle	Colon
17	chr3:24725400-24727600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr3:24725400-24727600	Weak transcription	NHDF-Ad	bronchial
19	chr3:24725400-24727800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr3:24725400-24727800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr3:24725400-24728000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr3:24725400-24728000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:24725400-24728200	Weak transcription	NHLF	lung
24	chr3:24725400-24730000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr3:24725400-24730400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr3:24725400-24731400	Weak transcription	Aorta	Aorta
27	chr3:24725600-24726000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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