Variant report

Variant	rs72996207
Chromosome Location	chr3:145883192-145883193
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	SP1	chr3:145882679-145883729	A549	lung:	n/a	n/a
2	STAT3	chr3:145883073-145883606	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr3:145883044-145883608	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr3:145882882-145883720	HUVEC	blood vessel:	n/a	n/a
5	FOS	chr3:145882941-145883575	MCF10A-Er-Src	breast:	n/a	n/a
6	EP300	chr3:145882567-145885019	A549	lung:	n/a	chr3:145884652-145884666 chr3:145884169-145884183 chr3:145883504-145883518 chr3:145883506-145883520
7	E2F4	chr3:145883185-145883470	MCF10A-Er-Src	breast:	n/a	n/a
8	CEBPB	chr3:145882861-145885527	Hela-S3	cervix:	n/a	chr3:145884293-145884304 chr3:145885330-145885341 chr3:145885330-145885341 chr3:145885328-145885341
9	JUND	chr3:145883137-145884908	Hela-S3	cervix:	n/a	n/a
10	STAT3	chr3:145883100-145883637	MCF10A-Er-Src	breast:	n/a	n/a
11	TCF12	chr3:145883005-145883535	A549	lung:	n/a	n/a
12	TEAD4	chr3:145883125-145883567	A549	lung:	n/a	n/a
13	TEAD4	chr3:145883064-145883610	A549	lung:	n/a	n/a
14	STAT3	chr3:145883073-145883636	MCF10A-Er-Src	breast:	n/a	n/a
15	SP1	chr3:145882649-145883705	A549	lung:	n/a	n/a
16	TCF7L2	chr3:145882831-145883310	PANC-1	pancreas:	n/a	n/a
17	GATA2	chr3:145881294-145883495	HUVEC	blood vessel:	n/a	chr3:145881493-145881503 chr3:145881849-145881859
18	ATF3	chr3:145883039-145883561	A549	lung:	n/a	n/a
19	STAT3	chr3:145882985-145883622	MCF10A-Er-Src	breast:	n/a	n/a
20	ETS1	chr3:145882811-145883467	A549	lung:	n/a	n/a
21	CEBPB	chr3:145882618-145883740	A549	lung:	n/a	n/a
22	CEBPB	chr3:145883042-145883535	A549	lung:	n/a	n/a
23	REST	chr3:145882990-145883613	A549	lung:	n/a	n/a
24	FOSL2	chr3:145882755-145885023	A549	lung:	n/a	n/a
25	POLR2A	chr3:145883050-145883910	MCF10A-Er-Src	breast:	n/a	n/a
26	FOSL2	chr3:145883126-145883526	A549	lung:	n/a	n/a
27	FOS	chr3:145883074-145883530	MCF10A-Er-Src	breast:	n/a	n/a
28	BCL3	chr3:145882798-145883742	A549	lung:	n/a	n/a
29	EP300	chr3:145882707-145883680	A549	lung:	n/a	chr3:145883504-145883518 chr3:145883506-145883520
30	TCF12	chr3:145882436-145883793	A549	lung:	n/a	n/a
31	GATA3	chr3:145881141-145885094	A549	lung:	n/a	chr3:145884196-145884203 chr3:145884193-145884205 chr3:145881493-145881503 chr3:145883534-145883551 chr3:145884194-145884204 chr3:145884259-145884269 chr3:145884196-145884206 chr3:145881849-145881859 chr3:145883828-145883839
32	POLR2A	chr3:145882811-145883560	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:145868830..145872262-chr3:145881585..145883218,3	MCF-7	breast:
2	chr3:145883004..145884526-chr3:145908906..145911614,2	MCF-7	breast:
3	chr3:145880474..145882151-chr3:145882740..145884446,2	K562	blood:
4	chr3:145832179..145836696-chr3:145881447..145885871,6	MCF-7	breast:
5	chr3:145736816..145738594-chr3:145881561..145884475,2	MCF-7	breast:
6	chr17:56706544..56709152-chr3:145882209..145883795,2	MCF-7	breast:

Variant related genes	Relation type
PLOD2	TF binding region
ENSG00000152952	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11916662	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11917712	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11917774	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11917816	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11919826	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11925421	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12171307	1.00[AMR][1000 genomes]
rs1512898	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1512899	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16857989	1.00[ASN][1000 genomes]
rs2055978	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55721145	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57931335	1.00[AMR][1000 genomes]
rs59713697	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6440412	1.00[AMR][1000 genomes]
rs6440420	1.00[AMR][1000 genomes]
rs72989683	1.00[ASN][1000 genomes]
rs72989685	1.00[ASN][1000 genomes]
rs72989693	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72996210	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72996212	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73865335	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73865338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9869319	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877613	chr3:145833232-145912055	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1011146	chr3:145859022-145911429	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1012485	chr3:145861750-145947125	Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv536758	chr3:145861750-145947125	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:145879800-145884400	Weak transcription	Pancreas	Pancrea
2	chr3:145879800-145885000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:145880000-145883400	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr3:145880000-145884400	Weak transcription	Aorta	Aorta
5	chr3:145880000-145884400	Weak transcription	Right Atrium	heart
6	chr3:145880000-145885000	Enhancers	HMEC	breast
7	chr3:145880000-145885000	Enhancers	HSMMtube	muscle
8	chr3:145880000-145885000	Enhancers	NHDF-Ad	bronchial
9	chr3:145880000-145885600	Enhancers	Fetal Intestine Small	intestine
10	chr3:145880200-145884800	Enhancers	HepG2	liver
11	chr3:145880200-145885200	Enhancers	NHLF	lung
12	chr3:145880200-145885600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:145880600-145883400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr3:145880600-145883800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr3:145880600-145884400	Weak transcription	Fetal Lung	lung
16	chr3:145880600-145884800	Enhancers	Liver	Liver
17	chr3:145880800-145884400	Weak transcription	Ovary	ovary
18	chr3:145880800-145914400	Weak transcription	Left Ventricle	heart
19	chr3:145881200-145885000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr3:145881200-145885000	Enhancers	NHEK	skin
21	chr3:145881400-145884000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr3:145881600-145884000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr3:145881600-145884800	Enhancers	Rectal Smooth Muscle	rectum
24	chr3:145881600-145885000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr3:145881600-145885400	Flanking Active TSS	A549	lung
26	chr3:145881800-145884200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr3:145882000-145884400	Enhancers	Hela-S3	cervix
28	chr3:145882000-145885200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:145882000-145885600	Enhancers	HUVEC	blood vessel
30	chr3:145882200-145883600	Weak transcription	Adipose Nuclei	Adipose
31	chr3:145882200-145885000	Enhancers	Fetal Intestine Large	intestine
32	chr3:145882600-145883200	Enhancers	H9 Cell Line	embryonic stem cell
33	chr3:145882600-145883200	Enhancers	Fetal Kidney	kidney
34	chr3:145882600-145883400	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr3:145882600-145883800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr3:145882600-145883800	Flanking Active TSS	NH-A	brain
37	chr3:145882600-145884000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr3:145882600-145884000	Flanking Active TSS	Osteobl	bone
39	chr3:145882600-145885200	Enhancers	Placenta Amnion	Placenta Amnion
40	chr3:145882800-145883200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr3:145882800-145883200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr3:145882800-145883200	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr3:145882800-145883200	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr3:145882800-145883200	Flanking Active TSS	Duodenum Mucosa	Duodenum
45	chr3:145882800-145883200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr3:145882800-145883400	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr3:145882800-145883600	Enhancers	Placenta	Placenta
48	chr3:145882800-145884000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr3:145882800-145885200	Enhancers	Stomach Mucosa	stomach
50	chr3:145883000-145883200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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