Variant report

Variant	rs112865374
Chromosome Location	chr3:134069753-134069754
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	TEAD4	chr3:134069580-134070283	ECC-1	luminal epithelium:	n/a	n/a
2	NFIC	chr3:134069556-134070320	ECC-1	luminal epithelium:	n/a	chr3:134070094-134070111
3	POLR2A	chr3:134069330-134070156	ECC-1	luminal epithelium:	n/a	n/a
4	HDAC2	chr3:134069707-134070357	MCF-7	breast:	n/a	chr3:134070195-134070204
5	FOSL2	chr3:134069580-134070242	MCF-7	breast:	n/a	n/a
6	CTCF	chr3:134069740-134069890	HMEC	breast:	n/a	n/a
7	NFIC	chr3:134069578-134070506	ECC-1	luminal epithelium:	n/a	chr3:134070094-134070111
8	MAX	chr3:134069634-134070243	ECC-1	luminal epithelium:	n/a	chr3:134069852-134069861
9	RAD21	chr3:134069674-134070382	MCF-7	breast:	n/a	n/a
10	SP1	chr3:134069500-134070311	HCT-116	colon:	n/a	chr3:134069739-134069753 chr3:134070106-134070120
11	NR2F2	chr3:134069662-134070462	MCF-7	breast:	n/a	n/a
12	ZNF217	chr3:134069744-134070400	MCF-7	breast:	n/a	n/a
13	TCF12	chr3:134069386-134070624	MCF-7	breast:	n/a	chr3:134069806-134069813 chr3:134069732-134069742 chr3:134070314-134070324
14	MAX	chr3:134069551-134070304	HCT-116	colon:	n/a	chr3:134069852-134069861
15	ELF1	chr3:134069177-134070324	MCF-7	breast:	n/a	n/a
16	POLR2A	chr3:134069439-134070162	MCF-7	breast:	n/a	n/a
17	FOSL2	chr3:134069580-134070235	MCF-7	breast:	n/a	n/a
18	POLR2A	chr3:134069604-134070121	MCF-7	breast:	n/a	n/a
19	MAX	chr3:134069617-134070317	ECC-1	luminal epithelium:	n/a	chr3:134069852-134069861
20	MAX	chr3:134069542-134070379	HCT-116	colon:	n/a	chr3:134069852-134069861
21	JUND	chr3:134069592-134070358	MCF-7	breast:	n/a	n/a
22	MYC	chr3:134069722-134070064	MCF-7	breast:	n/a	chr3:134069852-134069861
23	TCF12	chr3:134069540-134070380	ECC-1	luminal epithelium:	n/a	chr3:134069806-134069813 chr3:134069732-134069742 chr3:134070314-134070324
24	POLR2A	chr3:134069682-134070124	HCT-116	colon:	n/a	n/a
25	CEBPB	chr3:134069582-134070253	MCF-7	breast:	n/a	n/a
26	SIN3AK20	chr3:134069593-134070439	MCF-7	breast:	n/a	n/a
27	MAX	chr3:134069228-134070274	MCF-7	breast:	n/a	chr3:134069852-134069861
28	RAD21	chr3:134069609-134070221	ECC-1	luminal epithelium:	n/a	n/a
29	FOXA1	chr3:134069750-134070314	T-47D	breast:	n/a	n/a
30	TCF12	chr3:134069464-134070399	ECC-1	luminal epithelium:	n/a	chr3:134069806-134069813 chr3:134069732-134069742 chr3:134070314-134070324
31	GATA3	chr3:134069707-134070342	T-47D	breast:	n/a	n/a
32	JUND	chr3:134069590-134070320	MCF-7	breast:	n/a	n/a
33	POLR2A	chr3:134069635-134070133	MCF-7	breast:	n/a	n/a
34	EP300	chr3:134069652-134070263	T-47D	breast:	n/a	chr3:134070194-134070204
35	ELF1	chr3:134069576-134070459	MCF-7	breast:	n/a	n/a
36	JUND	chr3:134069558-134070232	HCT-116	colon:	n/a	n/a
37	EP300	chr3:134069604-134070435	MCF-7	breast:	n/a	chr3:134070194-134070204 chr3:134070406-134070420
38	TEAD4	chr3:134069717-134070252	ECC-1	luminal epithelium:	n/a	n/a
39	MAX	chr3:134069576-134070432	MCF-7	breast:	n/a	chr3:134069852-134069861
40	GATA3	chr3:134069560-134070443	MCF-7	breast:	n/a	chr3:134069698-134069707
41	FOXM1	chr3:134069639-134070455	MCF-7	breast:	n/a	n/a
42	NR2F2	chr3:134069592-134070510	MCF-7	breast:	n/a	n/a
43	POLR2A	chr3:134069700-134070173	HCT-116	colon:	n/a	n/a
44	POLR2A	chr3:134069255-134074808	A549	lung:	n/a	n/a
45	POLR2A	chr3:134069664-134070021	ProgFib	skin:	n/a	n/a
46	GATA3	chr3:134069709-134070360	MCF-7	breast:	n/a	n/a
47	TCF12	chr3:134069559-134070425	MCF-7	breast:	n/a	chr3:134069806-134069813 chr3:134069732-134069742 chr3:134070314-134070324
48	EP300	chr3:134069587-134070374	T-47D	breast:	n/a	chr3:134070194-134070204
49	HDAC2	chr3:134069615-134070400	MCF-7	breast:	n/a	chr3:134070195-134070204
50	GATA3	chr3:134069445-134070537	MCF-7	breast:	n/a	chr3:134069698-134069707

No.	Distal block	Cell Line	Cell type
1	chr3:134068339..134071562-chr3:134203031..134205941,6	MCF-7	breast:
2	chr3:134019644..134021494-chr3:134068815..134070339,2	MCF-7	breast:
3	chr3:134024378..134037377-chr3:134063304..134080412,83	MCF-7	breast:
4	chr3:134066447..134072766-chr3:134202428..134206376,9	MCF-7	breast:
5	chr3:134031725..134032254-chr3:134069181..134070038,2	MCF-7	breast:
6	chr3:134046187..134047077-chr3:134069663..134070556,4	MCF-7	breast:
7	chr3:133967562..133971327-chr3:134067822..134072418,4	MCF-7	breast:
8	chr3:134046045..134047071-chr3:134069689..134070482,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260633	TF binding region
ENSG00000163785	Chromatin interaction
ENSG00000240006	Chromatin interaction
ENSG00000182923	Chromatin interaction
ENSG00000129055	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	esv3522171	chr3:133889405-134156571	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3522172	chr3:133889405-134156571	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv967066	chr3:134069560-134071258	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134054200-134069800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:134055800-134071000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr3:134060600-134070000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:134060800-134072200	Weak transcription	Fetal Kidney	kidney
5	chr3:134061400-134073000	Weak transcription	Fetal Brain Male	brain
6	chr3:134065800-134071400	Weak transcription	Brain Hippocampus Middle	brain
7	chr3:134065800-134071400	Enhancers	Fetal Intestine Large	intestine
8	chr3:134065800-134071600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr3:134065800-134072400	Weak transcription	Spleen	Spleen
10	chr3:134066000-134072800	Enhancers	Duodenum Mucosa	Duodenum
11	chr3:134066200-134071000	Weak transcription	Brain Substantia Nigra	brain
12	chr3:134066400-134071400	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr3:134066400-134071600	Weak transcription	Fetal Lung	lung
14	chr3:134066400-134071600	Enhancers	Placenta	Placenta
15	chr3:134066400-134073000	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr3:134066600-134069800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr3:134066600-134071800	Enhancers	Placenta Amnion	Placenta Amnion
18	chr3:134066600-134076200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr3:134066800-134073000	Weak transcription	Ovary	ovary
20	chr3:134067000-134073400	Enhancers	Pancreas	Pancrea
21	chr3:134067200-134071600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:134067200-134071800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr3:134067200-134072000	Enhancers	HMEC	breast
24	chr3:134067200-134072800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr3:134067200-134073000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:134067400-134073200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr3:134067400-134073200	Enhancers	Esophagus	oesophagus
28	chr3:134067600-134072800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr3:134067600-134073200	Weak transcription	Brain Angular Gyrus	brain
30	chr3:134067600-134076200	Strong transcription	Brain Germinal Matrix	brain
31	chr3:134067800-134069800	Weak transcription	Colon Smooth Muscle	Colon
32	chr3:134067800-134072400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr3:134067800-134073000	Weak transcription	Brain Anterior Caudate	brain
34	chr3:134067800-134073200	Weak transcription	NH-A	brain
35	chr3:134068000-134069800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr3:134068200-134069800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr3:134068200-134069800	Weak transcription	Aorta	Aorta
38	chr3:134068200-134069800	Weak transcription	Hela-S3	cervix
39	chr3:134068200-134070200	Weak transcription	Osteobl	bone
40	chr3:134068200-134071000	Weak transcription	NHLF	lung
41	chr3:134068400-134070200	Weak transcription	NHDF-Ad	bronchial
42	chr3:134068400-134070400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr3:134068400-134071200	Weak transcription	Fetal Heart	heart
44	chr3:134068400-134072800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr3:134068400-134073200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr3:134068400-134074200	Genic enhancers	Fetal Intestine Small	intestine
47	chr3:134068400-134076000	Strong transcription	Fetal Stomach	stomach
48	chr3:134068800-134071800	Enhancers	NHEK	skin
49	chr3:134068800-134073200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr3:134069000-134072200	Strong transcription	Stomach Smooth Muscle	stomach

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