Variant report

Variant	rs73075569
Chromosome Location	chr3:46649563-46649564
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	E2F6	chr3:46649003-46649639	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr3:46649226-46649614	K562	blood:	n/a	chr3:46649385-46649398 chr3:46649573-46649581 chr3:46649382-46649400 chr3:46649567-46649580
3	CTCF	chr3:46649205-46649563	K562	blood:	n/a	chr3:46649385-46649398 chr3:46649382-46649400
4	JUN	chr3:46648836-46649816	K562	blood:	n/a	chr3:46649312-46649326
5	MYC	chr3:46649083-46649603	K562	blood:	n/a	chr3:46649220-46649229
6	RAD21	chr3:46649208-46649577	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr3:46649168-46649575	K562	blood:	n/a	chr3:46649385-46649398 chr3:46649382-46649400
8	RAD21	chr3:46649061-46649652	H1-hESC	embryonic stem cell:	n/a	chr3:46649576-46649583
9	MAX	chr3:46649119-46649642	H1-hESC	embryonic stem cell:	n/a	chr3:46649220-46649229

Variant related genes	Relation type
TDGF1	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1520492	0.97[ASN][1000 genomes]
rs1520494	0.97[ASN][1000 genomes]
rs17078977	0.97[ASN][1000 genomes]
rs2176862	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55740502	0.97[ASN][1000 genomes]
rs56008703	0.83[AFR][1000 genomes]
rs57417282	0.97[ASN][1000 genomes]
rs58599738	0.97[ASN][1000 genomes]
rs58647844	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73075520	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73075528	0.83[AFR][1000 genomes]
rs73075538	0.96[ASN][1000 genomes]
rs73075539	0.96[ASN][1000 genomes]
rs73075540	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73075542	1.00[ASN][1000 genomes]
rs73075543	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73075555	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73075561	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73075564	0.83[AMR][1000 genomes]
rs73075571	0.83[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	nsv1013306	chr3:46469014-46698538	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers 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	10 gene(s)	inside rSNPs	diseases
2	nsv876738	chr3:46639048-46680063	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr3:46628800-46651000	Weak transcription	Right Atrium	heart
2	chr3:46634800-46650800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:46645200-46650600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:46646200-46654000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:46646600-46650800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr3:46646600-46651000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:46646800-46650800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr3:46647800-46650400	Weak transcription	Hela-S3	cervix
9	chr3:46648000-46649600	Enhancers	NHDF-Ad	bronchial
10	chr3:46648200-46652000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:46648200-46652000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:46648400-46650000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr3:46648400-46650200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr3:46648600-46650600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr3:46648600-46652000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:46649000-46649600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr3:46649000-46649800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr3:46649000-46650000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr3:46649000-46650000	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr3:46649000-46650200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr3:46649000-46650800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr3:46649200-46649600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr3:46649200-46649600	Enhancers	Adipose Nuclei	Adipose
24	chr3:46649200-46649600	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr3:46649200-46649600	Bivalent Enhancer	K562	blood
26	chr3:46649200-46650000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr3:46649400-46649600	Enhancers	H9 Cell Line	embryonic stem cell

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