Variant report

Variant	rs73235153
Chromosome Location	chr3:112984304-112984305
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	POLR2A	chr3:112983691-112984491	ECC-1	luminal epithelium:	n/a	n/a
2	NFIC	chr3:112983009-112984710	ECC-1	luminal epithelium:	n/a	n/a
3	EP300	chr3:112983556-112984650	ECC-1	luminal epithelium:	n/a	chr3:112984207-112984221
4	ESR1	chr3:112983641-112984684	ECC-1	luminal epithelium:	n/a	n/a
5	EP300	chr3:112982914-112984707	ECC-1	luminal epithelium:	n/a	chr3:112984207-112984221
6	TEAD4	chr3:112983625-112984624	ECC-1	luminal epithelium:	n/a	n/a
7	TCF12	chr3:112983589-112984650	ECC-1	luminal epithelium:	n/a	n/a
8	NFIC	chr3:112983533-112984651	ECC-1	luminal epithelium:	n/a	n/a
9	FOXM1	chr3:112983697-112984737	ECC-1	luminal epithelium:	n/a	n/a
10	ESR1	chr3:112984202-112984531	ECC-1	luminal epithelium:	n/a	n/a
11	TCF12	chr3:112982915-112984776	ECC-1	luminal epithelium:	n/a	n/a
12	ESR1	chr3:112984089-112984565	ECC-1	luminal epithelium:	n/a	n/a
13	MAX	chr3:112983634-112984564	ECC-1	luminal epithelium:	n/a	n/a
14	ESR1	chr3:112984031-112984589	ECC-1	luminal epithelium:	n/a	n/a
15	JUND	chr3:112984268-112984496	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr3:112984181-112984570	ECC-1	luminal epithelium:	n/a	n/a
17	NR3C1	chr3:112983665-112984607	ECC-1	luminal epithelium:	n/a	chr3:112984457-112984483 chr3:112983834-112983841 chr3:112984461-112984479
18	TEAD4	chr3:112983617-112984587	ECC-1	luminal epithelium:	n/a	n/a
19	ESR1	chr3:112984150-112984506	ECC-1	luminal epithelium:	n/a	n/a
20	ESR1	chr3:112983517-112984713	ECC-1	luminal epithelium:	n/a	n/a
21	NR3C1	chr3:112984128-112984589	ECC-1	luminal epithelium:	n/a	chr3:112984457-112984483 chr3:112984461-112984479

Variant related genes	Relation type
BOC	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11710894	0.81[AMR][1000 genomes]
rs11717833	0.81[AMR][1000 genomes]
rs11919134	0.90[EUR][1000 genomes]
rs11928342	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12492273	0.81[AMR][1000 genomes]
rs12494864	0.88[AMR][1000 genomes]
rs12638030	0.83[ASN][1000 genomes]
rs16860758	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1875111	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2036282	0.80[AMR][1000 genomes]
rs2201971	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4682131	0.81[AMR][1000 genomes]
rs4682132	0.84[AMR][1000 genomes]
rs4682477	0.82[AMR][1000 genomes]
rs4682479	0.82[AMR][1000 genomes]
rs4682481	0.83[ASN][1000 genomes]
rs61586075	0.82[AMR][1000 genomes]
rs73235147	0.82[AMR][1000 genomes]
rs7620307	0.81[AMR][1000 genomes]
rs775219	0.82[AMR][1000 genomes]
rs9288981	0.82[AMR][1000 genomes]
rs9874603	0.87[AMR][1000 genomes]
rs999366	0.81[AMR][1000 genomes]
rs999367	0.84[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	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv829677	chr3:112857075-113038987	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1003511	chr3:112858775-112989045	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv877348	chr3:112914756-113012509	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112969000-112995200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr3:112969800-112991800	Weak transcription	Right Ventricle	heart
3	chr3:112969800-112994200	Weak transcription	Spleen	Spleen
4	chr3:112971800-112986400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr3:112972400-112986400	Weak transcription	Fetal Intestine Small	intestine
6	chr3:112973400-112987600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:112973600-112993000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:112973600-112997200	Weak transcription	Colonic Mucosa	Colon
9	chr3:112974200-112994600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:112976400-112988600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:112978600-112991400	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr3:112978800-112984400	Genic enhancers	Stomach Smooth Muscle	stomach
13	chr3:112979400-112984800	Genic enhancers	Fetal Stomach	stomach
14	chr3:112979600-112985600	Enhancers	Fetal Brain Female	brain
15	chr3:112980600-112984400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:112981000-112986600	Enhancers	Brain Substantia Nigra	brain
17	chr3:112981200-112991000	Genic enhancers	Fetal Muscle Leg	muscle
18	chr3:112981400-112984400	Enhancers	Brain Anterior Caudate	brain
19	chr3:112981400-112984800	Enhancers	Fetal Thymus	thymus
20	chr3:112981400-112987200	Weak transcription	Aorta	Aorta
21	chr3:112981400-112989800	Weak transcription	Gastric	stomach
22	chr3:112981600-112994400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr3:112981800-112984800	Enhancers	Psoas Muscle	Psoas
24	chr3:112981800-112985400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr3:112982000-112984800	Enhancers	H1 Cell Line	embryonic stem cell
26	chr3:112982000-112984800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:112982000-112985000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:112982000-112985600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr3:112982000-112985800	Weak transcription	Esophagus	oesophagus
30	chr3:112982000-112986200	Weak transcription	Ovary	ovary
31	chr3:112982000-112989800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:112982200-112984800	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr3:112982200-112986000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr3:112982200-112987200	Weak transcription	Fetal Intestine Large	intestine
35	chr3:112982200-112988800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr3:112982200-112989400	Weak transcription	Adipose Nuclei	Adipose
37	chr3:112982400-112984600	Enhancers	Brain Germinal Matrix	brain
38	chr3:112982400-112985000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr3:112982400-112985000	Enhancers	Brain Hippocampus Middle	brain
40	chr3:112982600-112984800	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr3:112982600-112989000	Weak transcription	NHEK	skin
42	chr3:112982800-112984600	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr3:112982800-112984800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:112982800-112985800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr3:112982800-112993600	Weak transcription	HMEC	breast
46	chr3:112983000-112984800	Enhancers	H9 Cell Line	embryonic stem cell
47	chr3:112983000-112984800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr3:112983000-112987000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr3:112983000-112987400	Weak transcription	NHDF-Ad	bronchial
50	chr3:112983200-112984600	Enhancers	Fetal Brain Male	brain

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