Variant report

Variant	rs75713157
Chromosome Location	chr3:81793867-81793868
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	TCF12	chr3:81793394-81794067	SK-N-SH	brain:	n/a	n/a
2	SP1	chr3:81793487-81794050	HCT-116	colon:	n/a	n/a
3	POLR2A	chr3:81793501-81793881	GM12892	blood:	n/a	n/a
4	GATA3	chr3:81793384-81794103	SK-N-SH	brain:	n/a	chr3:81793773-81793782 chr3:81793663-81793672 chr3:81793769-81793785 chr3:81793770-81793780 chr3:81793773-81793782 chr3:81793772-81793782 chr3:81793687-81793696
5	ZMIZ1	chr3:81793723-81793887	K562	blood:	n/a	n/a
6	JUN	chr3:81791732-81794075	K562	blood:	n/a	chr3:81792298-81792308 chr3:81792534-81792546 chr3:81793639-81793648 chr3:81792297-81792309 chr3:81792299-81792307 chr3:81792427-81792439 chr3:81792298-81792308
7	CEBPB	chr3:81793542-81794030	A549	lung:	n/a	chr3:81793724-81793735 chr3:81793721-81793738
8	RCOR1	chr3:81791675-81794122	IMR90	lung:	n/a	n/a
9	POLR2A	chr3:81793376-81794044	HUVEC	blood vessel:	n/a	n/a
10	TEAD4	chr3:81793395-81794078	SK-N-SH	brain:	n/a	n/a
11	TBL1XR1	chr3:81793603-81793922	K562	blood:	n/a	n/a
12	MAX	chr3:81793452-81793924	SK-N-SH	brain:	n/a	n/a
13	TCF12	chr3:81793470-81793907	A549	lung:	n/a	n/a
14	JUND	chr3:81793379-81793987	HCT-116	colon:	n/a	chr3:81793639-81793648
15	MYC	chr3:81793582-81794135	MCF10A-Er-Src	breast:	n/a	n/a
16	GATA2	chr3:81793622-81793918	K562	blood:	n/a	chr3:81793773-81793782 chr3:81793663-81793672 chr3:81793769-81793785 chr3:81793662-81793676 chr3:81793770-81793780 chr3:81793773-81793782 chr3:81793772-81793782 chr3:81793687-81793696
17	JUND	chr3:81793397-81794068	SK-N-SH	brain:	n/a	chr3:81793639-81793648
18	CHD1	chr3:81791710-81794472	IMR90	lung:	n/a	n/a
19	FOS	chr3:81793442-81794330	MCF10A-Er-Src	breast:	n/a	chr3:81793639-81793648
20	FOS	chr3:81793488-81793967	HUVEC	blood vessel:	n/a	chr3:81793639-81793648
21	TBP	chr3:81793523-81793872	Hela-S3	cervix:	n/a	n/a
22	GATA3	chr3:81791963-81794163	A549	lung:	n/a	chr3:81793773-81793782 chr3:81793663-81793672 chr3:81793769-81793785 chr3:81793770-81793780 chr3:81793773-81793782 chr3:81793772-81793782 chr3:81793687-81793696 chr3:81793134-81793142
23	CEBPB	chr3:81793538-81793969	ECC-1	luminal epithelium:	n/a	chr3:81793724-81793735 chr3:81793721-81793738
24	POLR2A	chr3:81793504-81793938	SK-N-SH	brain:	n/a	n/a
25	MAFK	chr3:81793532-81793907	Hela-S3	cervix:	n/a	n/a
26	RAD21	chr3:81793488-81794198	IMR90	lung:	n/a	n/a
27	CEBPB	chr3:81793515-81794055	IMR90	lung:	n/a	chr3:81793724-81793735 chr3:81793721-81793738
28	STAT3	chr3:81793474-81793987	MCF10A-Er-Src	breast:	n/a	n/a
29	CEBPB	chr3:81793566-81794045	K562	blood:	n/a	chr3:81793724-81793735 chr3:81793721-81793738
30	NFIC	chr3:81793378-81794110	SK-N-SH	brain:	n/a	n/a
31	STAT3	chr3:81793564-81793886	MCF10A-Er-Src	breast:	n/a	n/a
32	EP300	chr3:81793348-81794287	Hela-S3	cervix:	n/a	n/a
33	ZNF143	chr3:81793710-81793945	K562	blood:	n/a	n/a
34	TEAD4	chr3:81793471-81793931	K562	blood:	n/a	n/a
35	TEAD4	chr3:81793505-81793903	ECC-1	luminal epithelium:	n/a	n/a
36	SRF	chr3:81793478-81793898	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr3:81793489-81794007	HUVEC	blood vessel:	n/a	n/a
38	KAP1	chr3:81793555-81794031	U2OS	brain:	n/a	n/a
39	EP300	chr3:81793501-81793909	SK-N-SH_RA	brain:	n/a	n/a
40	CUX1	chr3:81793608-81793918	K562	blood:	n/a	n/a
41	POLR2A	chr3:81793580-81794025	MCF10A-Er-Src	breast:	n/a	n/a
42	CEBPB	chr3:81793399-81794059	A549	lung:	n/a	chr3:81793724-81793735 chr3:81793721-81793738
43	FOSL1	chr3:81793453-81793996	HCT-116	colon:	n/a	chr3:81793639-81793648
44	RCOR1	chr3:81793311-81793948	K562	blood:	n/a	n/a
45	EP300	chr3:81793588-81793914	K562	blood:	n/a	n/a
46	JUND	chr3:81793528-81793944	K562	blood:	n/a	chr3:81793639-81793648
47	ARID3A	chr3:81793376-81793973	K562	blood:	n/a	n/a
48	FOS	chr3:81793469-81794350	MCF10A-Er-Src	breast:	n/a	chr3:81793639-81793648
49	TCF12	chr3:81793365-81794058	SK-N-SH	brain:	n/a	n/a
50	TEAD4	chr3:81793484-81793934	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:81788513..81790945-chr3:81793476..81795825,2	MCF-7	breast:
2	chr3:81792798..81795144-chr3:81808070..81811820,3	MCF-7	breast:
3	chr3:81789146..81795604-chr3:81809193..81811958,7	MCF-7	breast:
4	chr3:81789819..81797196-chr3:81807650..81813820,9	K562	blood:

Variant related genes	Relation type
GBE1	TF binding region
ENSG00000114480	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012133	chr3:81499082-81817471	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv949545	chr3:81523898-81893929	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1009607	chr3:81651419-81825151	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv536604	chr3:81651419-81825151	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv834749	chr3:81655377-81818880	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv999992	chr3:81693662-82015969	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv536605	chr3:81693662-82015969	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	esv3445196	chr3:81793204-81794937	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3509148	chr3:81793261-81794873	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3509149	chr3:81793261-81794873	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3464209	chr3:81793299-81794891	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3464211	chr3:81793299-81794891	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv3464210	chr3:81793304-81794899	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv3326	chr3:81793341-81794869	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:81776000-81807400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:81781000-81809400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr3:81782200-81800400	Weak transcription	Primary B cells from cord blood	blood
4	chr3:81782400-81800200	Weak transcription	Left Ventricle	heart
5	chr3:81782800-81796600	Weak transcription	Right Atrium	heart
6	chr3:81789200-81794400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:81789600-81794400	Enhancers	Fetal Heart	heart
8	chr3:81789600-81794600	Enhancers	Hela-S3	cervix
9	chr3:81789600-81794800	Enhancers	Adipose Nuclei	Adipose
10	chr3:81791200-81794800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:81791200-81794800	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr3:81791200-81794800	Enhancers	Liver	Liver
13	chr3:81791200-81808800	Weak transcription	Primary T cells from cord blood	blood
14	chr3:81791400-81795400	Weak transcription	Right Ventricle	heart
15	chr3:81791400-81796400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr3:81791600-81794400	Enhancers	K562	blood
17	chr3:81791600-81803400	Weak transcription	Brain Hippocampus Middle	brain
18	chr3:81791800-81794000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr3:81791800-81794000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr3:81791800-81794600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:81792000-81794000	Enhancers	Stomach Mucosa	stomach
22	chr3:81792000-81795000	Enhancers	HSMM	muscle
23	chr3:81792000-81795400	Weak transcription	Psoas Muscle	Psoas
24	chr3:81792000-81810200	Weak transcription	Spleen	Spleen
25	chr3:81792200-81794000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr3:81792200-81794200	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr3:81792200-81794400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr3:81792200-81794800	Enhancers	HMEC	breast
29	chr3:81792200-81795200	Enhancers	Osteobl	bone
30	chr3:81792200-81795600	Enhancers	NHLF	lung
31	chr3:81792400-81795400	Weak transcription	Ovary	ovary
32	chr3:81792600-81794000	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr3:81792600-81794400	Flanking Active TSS	A549	lung
34	chr3:81792800-81794000	Weak transcription	Fetal Lung	lung
35	chr3:81792800-81794400	Enhancers	HepG2	liver
36	chr3:81792800-81795400	Enhancers	HUVEC	blood vessel
37	chr3:81792800-81802800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:81793000-81794600	Enhancers	NH-A	brain
39	chr3:81793000-81802800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr3:81793000-81809600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr3:81793200-81794800	Enhancers	NHEK	skin
42	chr3:81793200-81796800	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr3:81793200-81798400	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr3:81793200-81803800	Weak transcription	Aorta	Aorta
45	chr3:81793200-81809200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr3:81793400-81794000	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr3:81793400-81794200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr3:81793400-81794400	Enhancers	HSMMtube	muscle
49	chr3:81793400-81795000	Enhancers	Muscle Satellite Cultured Cells	--
50	chr3:81793400-81795400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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