Variant report

Variant	rs574380808
Chromosome Location	chr3:134071040-134071041
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	BRCA1	chr3:134070882-134071709	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr3:134070846-134071674	MCF-7	breast:	n/a	chr3:134071248-134071259
3	CEBPB	chr3:134070971-134071596	HepG2	liver:	n/a	chr3:134071248-134071259
4	CEBPB	chr3:134070744-134071586	IMR90	lung:	n/a	chr3:134071248-134071259
5	GATA3	chr3:134071003-134071590	T-47D	breast:	n/a	chr3:134071029-134071037 chr3:134071482-134071490 chr3:134071219-134071227
6	POLR2A	chr3:134070808-134071700	MCF10A-Er-Src	breast:	n/a	n/a
7	MAX	chr3:134070984-134071689	MCF-7	breast:	n/a	n/a
8	RAD21	chr3:134070912-134071739	Hela-S3	cervix:	n/a	chr3:134071273-134071282 chr3:134071271-134071281 chr3:134071467-134071480 chr3:134071329-134071338
9	CHD2	chr3:134071018-134071748	Hela-S3	cervix:	n/a	n/a
10	FOS	chr3:134070917-134071414	MCF10A-Er-Src	breast:	n/a	n/a
11	STAT3	chr3:134070990-134071338	MCF10A-Er-Src	breast:	n/a	n/a
12	EP300	chr3:134071017-134071594	T-47D	breast:	n/a	n/a
13	EP300	chr3:134070899-134071798	ECC-1	luminal epithelium:	n/a	chr3:134070968-134070982 chr3:134071683-134071697
14	CEBPB	chr3:134070765-134071568	A549	lung:	n/a	chr3:134071248-134071259
15	RCOR1	chr3:134071031-134071820	Hela-S3	cervix:	n/a	n/a
16	MAX	chr3:134071032-134072002	Hela-S3	cervix:	n/a	n/a
17	SIN3AK20	chr3:134070898-134071759	MCF-7	breast:	n/a	n/a
18	MXI1	chr3:134070962-134071731	Hela-S3	cervix:	n/a	n/a
19	TEAD4	chr3:134070978-134071421	HepG2	liver:	n/a	chr3:134071264-134071273
20	RFX5	chr3:134071001-134071841	Hela-S3	cervix:	n/a	n/a
21	GTF2F1	chr3:134070976-134071803	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr3:134070832-134071723	HCT-116	colon:	n/a	chr3:134071248-134071259
23	REST	chr3:134071038-134071499	MCF-7	breast:	n/a	n/a
24	TCF12	chr3:134070942-134071668	MCF-7	breast:	n/a	chr3:134071260-134071267
25	GATA3	chr3:134070942-134071707	MCF-7	breast:	n/a	chr3:134071029-134071037 chr3:134071482-134071490 chr3:134071219-134071227
26	CEBPB	chr3:134070827-134071748	MCF-7	breast:	n/a	chr3:134071248-134071259
27	NFIC	chr3:134070993-134071702	ECC-1	luminal epithelium:	n/a	n/a
28	FOXM1	chr3:134071029-134071757	MCF-7	breast:	n/a	n/a
29	CEBPB	chr3:134070827-134071597	A549	lung:	n/a	chr3:134071248-134071259
30	CHD1	chr3:134070900-134094634	IMR90	lung:	n/a	chr3:134093783-134093793 chr3:134092557-134092567 chr3:134083055-134083065
31	TCF12	chr3:134070865-134071691	MCF-7	breast:	n/a	chr3:134071260-134071267
32	USF2	chr3:134070946-134071671	Hela-S3	cervix:	n/a	n/a
33	ZNF217	chr3:134070933-134071577	MCF-7	breast:	n/a	n/a
34	FOS	chr3:134070970-134071440	MCF10A-Er-Src	breast:	n/a	n/a
35	STAT3	chr3:134071028-134071394	MCF10A-Er-Src	breast:	n/a	n/a
36	CEBPB	chr3:134070762-134071612	ECC-1	luminal epithelium:	n/a	chr3:134071248-134071259
37	SP1	chr3:134070908-134071546	A549	lung:	n/a	chr3:134071454-134071464 chr3:134070973-134070987
38	GATA3	chr3:134070969-134071585	T-47D	breast:	n/a	chr3:134071029-134071037 chr3:134071482-134071490 chr3:134071219-134071227
39	FOS	chr3:134070917-134071451	MCF10A-Er-Src	breast:	n/a	n/a
40	STAT3	chr3:134070602-134071497	Hela-S3	cervix:	n/a	chr3:134070967-134070979
41	TEAD4	chr3:134070945-134071620	ECC-1	luminal epithelium:	n/a	chr3:134071264-134071273
42	EP300	chr3:134070805-134071609	Hela-S3	cervix:	n/a	chr3:134070968-134070982
43	GATA3	chr3:134070763-134071827	MCF-7	breast:	n/a	chr3:134071029-134071037 chr3:134071482-134071490 chr3:134071219-134071227
44	RAD21	chr3:134070902-134074481	IMR90	lung:	n/a	chr3:134071273-134071282 chr3:134073072-134073086 chr3:134071271-134071281 chr3:134071467-134071480 chr3:134073738-134073752 chr3:134071329-134071338
45	CEBPB	chr3:134070305-134071634	Hela-S3	cervix:	n/a	chr3:134071248-134071259
46	NR2F2	chr3:134070934-134071655	MCF-7	breast:	n/a	n/a
47	MAX	chr3:134070890-134071714	MCF-7	breast:	n/a	n/a
48	NFIC	chr3:134070879-134072240	ECC-1	luminal epithelium:	n/a	n/a
49	RAD21	chr3:134071002-134071613	MCF-7	breast:	n/a	chr3:134071273-134071282 chr3:134071271-134071281 chr3:134071467-134071480 chr3:134071329-134071338
50	CEBPB	chr3:134070931-134071707	HCT-116	colon:	n/a	chr3:134071248-134071259

No.	Distal block	Cell Line	Cell type
1	chr3:134071025..134073147-chr3:134182309..134183857,2	MCF-7	breast:
2	chr3:134068339..134071562-chr3:134203031..134205941,6	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	chr3:134031946..134032540-chr3:134070876..134071500,2	MCF-7	breast:
6	chr3:133967562..133971327-chr3:134067822..134072418,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260633	TF binding region
RPL39P5	TF binding region
ENSG00000182923	Chromatin interaction
ENSG00000240006	Chromatin interaction
ENSG00000129055	Chromatin interaction
ENSG00000163785	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:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134060800-134072200	Weak transcription	Fetal Kidney	kidney
2	chr3:134061400-134073000	Weak transcription	Fetal Brain Male	brain
3	chr3:134065800-134071400	Weak transcription	Brain Hippocampus Middle	brain
4	chr3:134065800-134071400	Enhancers	Fetal Intestine Large	intestine
5	chr3:134065800-134071600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr3:134065800-134072400	Weak transcription	Spleen	Spleen
7	chr3:134066000-134072800	Enhancers	Duodenum Mucosa	Duodenum
8	chr3:134066400-134071400	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr3:134066400-134071600	Weak transcription	Fetal Lung	lung
10	chr3:134066400-134071600	Enhancers	Placenta	Placenta
11	chr3:134066400-134073000	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr3:134066600-134071800	Enhancers	Placenta Amnion	Placenta Amnion
13	chr3:134066600-134076200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr3:134066800-134073000	Weak transcription	Ovary	ovary
15	chr3:134067000-134073400	Enhancers	Pancreas	Pancrea
16	chr3:134067200-134071600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr3:134067200-134071800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:134067200-134072000	Enhancers	HMEC	breast
19	chr3:134067200-134072800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr3:134067200-134073000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:134067400-134073200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr3:134067400-134073200	Enhancers	Esophagus	oesophagus
23	chr3:134067600-134072800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr3:134067600-134073200	Weak transcription	Brain Angular Gyrus	brain
25	chr3:134067600-134076200	Strong transcription	Brain Germinal Matrix	brain
26	chr3:134067800-134072400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr3:134067800-134073000	Weak transcription	Brain Anterior Caudate	brain
28	chr3:134067800-134073200	Weak transcription	NH-A	brain
29	chr3:134068400-134071200	Weak transcription	Fetal Heart	heart
30	chr3:134068400-134072800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr3:134068400-134073200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr3:134068400-134074200	Genic enhancers	Fetal Intestine Small	intestine
33	chr3:134068400-134076000	Strong transcription	Fetal Stomach	stomach
34	chr3:134068800-134071800	Enhancers	NHEK	skin
35	chr3:134068800-134073200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr3:134069000-134072200	Strong transcription	Stomach Smooth Muscle	stomach
37	chr3:134069000-134074000	Strong transcription	Fetal Brain Female	brain
38	chr3:134069000-134074600	Enhancers	Psoas Muscle	Psoas
39	chr3:134069000-134076000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr3:134069200-134071800	Enhancers	HSMMtube	muscle
41	chr3:134069200-134072200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr3:134069200-134073000	Enhancers	Gastric	stomach
43	chr3:134069200-134074600	Enhancers	Stomach Mucosa	stomach
44	chr3:134069200-134090000	Genic enhancers	Fetal Muscle Trunk	muscle
45	chr3:134069400-134071400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr3:134069400-134072600	Enhancers	Adipose Nuclei	Adipose
47	chr3:134069400-134072800	Strong transcription	Brain Cingulate Gyrus	brain
48	chr3:134069400-134072800	Enhancers	Left Ventricle	heart
49	chr3:134069400-134073400	Enhancers	Liver	Liver
50	chr3:134069400-134089800	Genic enhancers	Fetal Muscle Leg	muscle

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