Variant report

Variant	rs574743480
Chromosome Location	chr7:5458203-5458204
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	TEAD4	chr7:5458087-5458643	HepG2	liver:	n/a	chr7:5458425-5458434
2	CEBPD	chr7:5458131-5458411	HepG2	liver:	n/a	n/a
3	RAD21	chr7:5458085-5458728	MCF-7	breast:	n/a	chr7:5458471-5458490
4	TEAD4	chr7:5458193-5458658	H1-hESC	embryonic stem cell:	n/a	chr7:5458425-5458434
5	EP300	chr7:5458139-5458515	K562	blood:	n/a	chr7:5458278-5458288
6	MAZ	chr7:5457576-5459985	IMR90	lung:	n/a	chr7:5459045-5459055 chr7:5459206-5459216
7	FOSL2	chr7:5458122-5458873	MCF-7	breast:	n/a	chr7:5458823-5458834
8	BCL3	chr7:5458034-5459081	A549	lung:	n/a	n/a
9	EP300	chr7:5458066-5458931	T-47D	breast:	n/a	chr7:5458278-5458288
10	SIN3AK20	chr7:5458154-5458578	PFSK-1	brain:	n/a	n/a
11	ZKSCAN1	chr7:5458109-5459038	Hela-S3	cervix:	n/a	chr7:5458734-5458747
12	TBP	chr7:5457870-5459053	Hela-S3	cervix:	n/a	n/a
13	HMGN3	chr7:5458174-5459075	K562	blood:	n/a	n/a
14	REST	chr7:5457985-5459093	A549	lung:	n/a	chr7:5458637-5458646 chr7:5458179-5458186
15	ZNF217	chr7:5458070-5458622	MCF-7	breast:	n/a	n/a
16	RCOR1	chr7:5458167-5458858	K562	blood:	n/a	n/a
17	POLR2A	chr7:5458135-5458245	A549	lung:	n/a	n/a
18	POLR2A	chr7:5458134-5458978	Hela-S3	cervix:	n/a	n/a
19	MYBL2	chr7:5458071-5459120	HepG2	liver:	n/a	n/a
20	MAX	chr7:5458112-5459149	A549	lung:	n/a	chr7:5459045-5459055
21	UBTF	chr7:5458172-5458340	K562	blood:	n/a	n/a
22	GTF2F1	chr7:5457810-5458950	Hela-S3	cervix:	n/a	n/a
23	E2F6	chr7:5458144-5459035	H1-hESC	embryonic stem cell:	n/a	chr7:5458631-5458641
24	TAF1	chr7:5457904-5459131	H1-neurons	neurons:	n/a	n/a
25	MYC	chr7:5458196-5458586	K562	blood:	n/a	n/a
26	MAX	chr7:5458003-5459196	HCT-116	colon:	n/a	chr7:5459045-5459055
27	EP300	chr7:5457950-5458997	A549	lung:	n/a	chr7:5458278-5458288 chr7:5458945-5458958
28	GATA3	chr7:5456781-5458965	T-47D	breast:	n/a	chr7:5457594-5457602 chr7:5457443-5457450 chr7:5457436-5457457 chr7:5457443-5457452 chr7:5458506-5458514 chr7:5457589-5457597 chr7:5457823-5457831 chr7:5457632-5457640 chr7:5457442-5457452 chr7:5457614-5457622
29	TCF7L2	chr7:5458003-5458950	HEK293	kidney:	n/a	n/a
30	POLR2A	chr7:5458103-5459178	MCF-7	breast:	n/a	n/a
31	RCOR1	chr7:5457965-5459010	Hela-S3	cervix:	n/a	n/a
32	TCF12	chr7:5457922-5458864	ECC-1	luminal epithelium:	n/a	n/a
33	KAP1	chr7:5458096-5458855	U2OS	brain:	n/a	n/a
34	MAFK	chr7:5458142-5458972	Hela-S3	cervix:	n/a	n/a
35	FOXA2	chr7:5458159-5458672	A549	lung:	n/a	chr7:5458283-5458295
36	ELF1	chr7:5457992-5459351	MCF-7	breast:	n/a	n/a
37	SP1	chr7:5457879-5459050	A549	lung:	n/a	chr7:5458561-5458572 chr7:5458562-5458571
38	ELF1	chr7:5457904-5458757	MCF-7	breast:	n/a	n/a
39	MXI1	chr7:5458121-5459055	Hela-S3	cervix:	n/a	n/a
40	JUND	chr7:5456898-5458673	T-47D	breast:	n/a	chr7:5457454-5457465
41	ZNF263	chr7:5457962-5458988	HEK293-T-REx	kidney:	n/a	n/a
42	POLR2A	chr7:5458094-5459081	Hela-S3	cervix:	n/a	n/a
43	MAX	chr7:5458143-5459154	ECC-1	luminal epithelium:	n/a	chr7:5459045-5459055
44	FOXA1	chr7:5457943-5458544	HepG2	liver:	n/a	chr7:5458283-5458295
45	POLR2A	chr7:5456980-5458909	K562	blood:	n/a	n/a
46	MYC	chr7:5458085-5458941	Hela-S3	cervix:	n/a	n/a
47	JUND	chr7:5456864-5458671	T-47D	breast:	n/a	chr7:5457454-5457465
48	POLR2A	chr7:5457984-5459231	HCT-116	colon:	n/a	n/a
49	TCF12	chr7:5456880-5459163	A549	lung:	n/a	chr7:5457832-5457839
50	SIN3AK20	chr7:5457139-5458912	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:5456513..5458866-chr7:5593273..5595987,2	MCF-7	breast:
2	chr7:5405158..5408659-chr7:5455520..5459271,4	MCF-7	breast:
3	chr7:5405741..5406385-chr7:5458033..5458970,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188365	TF binding region
ENSG00000241269	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	nsv887391	chr7:5224407-5572132	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	292 gene(s)	inside rSNPs	diseases
5	nsv823996	chr7:5285503-5465988	Flanking Active TSS Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv887396	chr7:5305297-5475409	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	esv1814049	chr7:5314993-5675131	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	333 gene(s)	inside rSNPs	diseases
8	esv1820266	chr7:5332088-5665173	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
9	nsv533965	chr7:5370746-5548397	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
10	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
11	nsv887401	chr7:5393243-5539958	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
12	nsv887402	chr7:5394951-5494677	Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
13	nsv887404	chr7:5402606-5667645	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
14	nsv887405	chr7:5409059-5552436	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
15	nsv887406	chr7:5414602-5552436	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
16	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer 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	336 gene(s)	inside rSNPs	diseases
17	nsv887407	chr7:5432672-5605130	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	302 gene(s)	inside rSNPs	diseases
18	nsv887408	chr7:5432672-5667645	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
19	nsv508443	chr7:5447283-5501122	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
20	nsv526194	chr7:5452756-5592436	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	278 gene(s)	inside rSNPs	diseases
21	nsv823997	chr7:5457916-5463961	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5437600-5458400	Weak transcription	Psoas Muscle	Psoas
2	chr7:5448800-5458400	Weak transcription	Gastric	stomach
3	chr7:5453200-5458600	Weak transcription	Aorta	Aorta
4	chr7:5456400-5458600	Enhancers	Placenta	Placenta
5	chr7:5456800-5458600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:5456800-5458800	Enhancers	Fetal Heart	heart
7	chr7:5457000-5458400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:5457000-5458400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:5457000-5458400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr7:5457000-5458400	Flanking Active TSS	Brain Germinal Matrix	brain
11	chr7:5457000-5458600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:5457000-5458600	Flanking Active TSS	Fetal Brain Female	brain
13	chr7:5457000-5459000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:5457000-5459400	Flanking Active TSS	Stomach Smooth Muscle	stomach
15	chr7:5457000-5461400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:5457200-5458400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:5457200-5458400	Genic enhancers	Fetal Muscle Trunk	muscle
18	chr7:5457200-5458400	Genic enhancers	Fetal Muscle Leg	muscle
19	chr7:5457200-5458400	Enhancers	Left Ventricle	heart
20	chr7:5457200-5458400	Enhancers	HMEC	breast
21	chr7:5457200-5458600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:5457200-5458600	Enhancers	Small Intestine	intestine
23	chr7:5457200-5458800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:5457200-5458800	Enhancers	Placenta Amnion	Placenta Amnion
25	chr7:5457200-5458800	Flanking Active TSS	NHDF-Ad	bronchial
26	chr7:5457200-5459200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr7:5457200-5459400	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr7:5457200-5461000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
29	chr7:5457400-5458400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:5457400-5458400	Transcr. at gene 5' and 3'	Cortex derived primary cultured neurospheres	brain
31	chr7:5457400-5458400	Enhancers	Right Atrium	heart
32	chr7:5457400-5458600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:5457400-5458600	Bivalent Enhancer	Fetal Thymus	thymus
34	chr7:5457400-5458800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:5457400-5459400	Flanking Active TSS	A549	lung
36	chr7:5457600-5458400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr7:5457600-5458400	Enhancers	Liver	Liver
38	chr7:5457600-5458400	Enhancers	Esophagus	oesophagus
39	chr7:5457600-5458400	Enhancers	Right Ventricle	heart
40	chr7:5457600-5458800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr7:5457600-5458800	Flanking Active TSS	Colon Smooth Muscle	Colon
42	chr7:5457600-5461000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:5457800-5458400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
44	chr7:5457800-5458400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:5457800-5458400	Enhancers	HSMMtube	muscle
46	chr7:5457800-5458600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
47	chr7:5457800-5458600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr7:5457800-5458800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr7:5457800-5458800	Bivalent Enhancer	Primary B cells from cord blood	blood
50	chr7:5457800-5458800	Flanking Active TSS	Fetal Brain Male	brain

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