Variant report

Variant	rs73226638
Chromosome Location	chr3:141430150-141430151
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	PBX3	chr3:141429644-141430591	SK-N-SH	brain:	n/a	chr3:141429980-141430000
2	JUN	chr3:141429598-141430397	HUVEC	blood vessel:	n/a	chr3:141429944-141429953 chr3:141429604-141429618 chr3:141429824-141429833
3	FOS	chr3:141429856-141430404	MCF10A-Er-Src	breast:	n/a	chr3:141429944-141429953
4	FOS	chr3:141429664-141430482	HUVEC	blood vessel:	n/a	chr3:141429944-141429953 chr3:141429824-141429833
5	YY1	chr3:141429778-141430222	SK-N-SH	brain:	n/a	n/a
6	FOSL2	chr3:141429629-141430491	SK-N-SH	brain:	n/a	chr3:141429944-141429953 chr3:141429824-141429833
7	TCF12	chr3:141429714-141430369	SK-N-SH	brain:	n/a	n/a
8	GATA3	chr3:141429638-141430353	SK-N-SH	brain:	n/a	n/a
9	GABPA	chr3:141429719-141430236	SK-N-SH	brain:	n/a	n/a
10	NFIC	chr3:141429590-141430358	SK-N-SH	brain:	n/a	n/a
11	JUND	chr3:141429713-141430358	SK-N-SH	brain:	n/a	chr3:141429944-141429953 chr3:141429824-141429833
12	GATA2	chr3:141429618-141430301	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr3:141429603-141430205	HUVEC	blood vessel:	n/a	n/a
14	FOS	chr3:141429877-141430354	MCF10A-Er-Src	breast:	n/a	chr3:141429944-141429953
15	FOS	chr3:141429889-141430385	MCF10A-Er-Src	breast:	n/a	chr3:141429944-141429953
16	POLR2A	chr3:141429714-141430163	SK-N-SH	brain:	n/a	n/a
17	PBX3	chr3:141429742-141430447	SK-N-SH	brain:	n/a	chr3:141429980-141430000
18	GATA3	chr3:141429603-141430461	SK-N-SH	brain:	n/a	n/a
19	TCF12	chr3:141429580-141430562	SK-N-SH	brain:	n/a	n/a
20	MAX	chr3:141429688-141430191	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
TPT1P3	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17195442	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17787778	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6782796	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6794262	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv34073	chr3:141395818-141448774	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv877552	chr3:141420562-141466147	Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141425400-141433000	Enhancers	HUVEC	blood vessel
2	chr3:141426200-141431800	Enhancers	Placenta	Placenta
3	chr3:141429400-141430400	Enhancers	HepG2	liver
4	chr3:141429400-141430800	Enhancers	NHDF-Ad	bronchial
5	chr3:141429600-141430200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:141429600-141430200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr3:141429600-141430200	Enhancers	Fetal Lung	lung
8	chr3:141429600-141430200	Enhancers	NH-A	brain
9	chr3:141429600-141430400	Enhancers	HMEC	breast
10	chr3:141429600-141430600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr3:141429600-141430600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:141429600-141430600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:141429600-141430600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr3:141429600-141430600	Enhancers	NHLF	lung
15	chr3:141429600-141430600	Enhancers	Osteobl	bone
16	chr3:141429600-141430800	Enhancers	Ovary	ovary
17	chr3:141429800-141430400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:141429800-141430400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr3:141429800-141430400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr3:141429800-141430400	Enhancers	HSMM	muscle
21	chr3:141429800-141430400	Enhancers	HSMMtube	muscle
22	chr3:141429800-141430600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr3:141429800-141431000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr3:141430000-141430400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr3:141430000-141431000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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