Variant report

Variant	esv3403743
Chromosome Location	chr7:4847626-4849774
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:244)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr7:4849066-4849098	GM12878	blood:	n/a	n/a
2	CTCF	chr7:4849022-4849109	GM12891	blood:	n/a	n/a
3	CTCF	chr7:4849029-4849068	GM12892	blood:	n/a	n/a
4	CTCF	chr7:4848979-4849136	GM12878	blood:	n/a	n/a
5	CTCF	chr7:4848940-4849090	GM12871	blood:	n/a	n/a
6	CTCF	chr7:4849040-4849190	GM06990	blood:	n/a	n/a
7	MYC	chr7:4848270-4848508	MCF-7	breast:	n/a	n/a
8	POLR2A	chr7:4849001-4849076	ProgFib	skin:	n/a	n/a
9	POLR2A	chr7:4848364-4848401	MCF-7	breast:	n/a	n/a
10	POLR2A	chr7:4848290-4848335	ProgFib	skin:	n/a	n/a
11	RUNX3	chr7:4848947-4849202	GM12878	blood:	n/a	n/a
12	ZNF143	chr7:4847436-4847740	H1-hESC	embryonic stem cell:	n/a	n/a
13	ZNF263	chr7:4846410-4847876	HEK293-T-REx	kidney:	n/a	chr7:4847620-4847641 chr7:4847588-4847609 chr7:4847660-4847681
14	ZNF263	chr7:4846993-4847727	K562	blood:	n/a	chr7:4847620-4847641 chr7:4847588-4847609 chr7:4847660-4847681

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:4848683-4848733	HEK293	kidney:	embryo
2	chr7:4848683-4848733	SK-N-SH	brain:	n/a
3	chr7:4848934-4848984	HIPEpiC	eye:	n/a
4	chr7:4848939-4848989	GM12878	blood:	n/a
5	chr7:4848934-4848984	HRE	kidney:	n/a
6	chr7:4848934-4848984	HL-60	blood:	n/a
7	chr7:4848934-4848984	HEEpiC	esophagus:	n/a
8	chr7:4848934-4848984	ECC-1	luminal epithelium:	n/a
9	chr7:4848934-4848984	NH-A	brain:	n/a
10	chr7:4848939-4848989	Hepatocyte	liver:	n/a
11	chr7:4848934-4848984	H1-hESC	embryonic stem cell:	embryo
12	chr7:4848939-4848989	HMEC	breast:	n/a
13	chr7:4848934-4848984	HCM	heart:	n/a
14	chr7:4848939-4848989	ECC-1	luminal epithelium:	n/a
15	chr7:4848934-4848984	HNPCEpiC	eye:	n/a
16	chr7:4848814-4848864	ECC-1	luminal epithelium:	n/a
17	chr7:4848934-4848984	Jurkat	blood:	n/a
18	chr7:4848934-4848984	AG09319	gingival:	n/a
19	chr7:4848683-4848733	H1-hESC	embryonic stem cell:	embryo
20	chr7:4848939-4848989	HIPEpiC	eye:	n/a
21	chr7:4848939-4848989	NT2-D1	testis:	n/a
22	chr7:4848683-4848733	HCT-116	colon:	n/a
23	chr7:4848939-4848989	AG09319	gingival:	n/a
24	chr7:4848934-4848984	HCF	heart:	n/a
25	chr7:4848683-4848733	AG04450	lung:	fetal
26	chr7:4848683-4848733	Caco-2	colon:	n/a
27	chr7:4848814-4848864	GM06990	blood:	n/a
28	chr7:4848939-4848989	HCM	heart:	n/a
29	chr7:4848934-4848984	T-47D	breast:	n/a
30	chr7:4848934-4848984	GM12891	blood:	n/a
31	chr7:4848683-4848733	GM19239	blood:	n/a
32	chr7:4848939-4848989	HRCEpiC	kidney:	n/a
33	chr7:4848814-4848864	AG10803	skin:	n/a
34	chr7:4848939-4848989	AG04450	lung:	fetal
35	chr7:4848683-4848733	GM06990	blood:	n/a
36	chr7:4848814-4848864	HPAEpiC	pulmonary alveolar:	n/a
37	chr7:4848939-4848989	HCF	heart:	n/a
38	chr7:4848934-4848984	PFSK-1	brain:	n/a
39	chr7:4848939-4848989	ProgFib	skin:	n/a
40	chr7:4848934-4848984	AG04449	skin:	fetal
41	chr7:4848683-4848733	AG10803	skin:	n/a
42	chr7:4848814-4848864	AG04450	lung:	fetal
43	chr7:4848814-4848864	HNPCEpiC	eye:	n/a
44	chr7:4848814-4848864	IMR90	lung:	fetal
45	chr7:4848814-4848864	HAEpiC	amniotic membrane:	n/a
46	chr7:4848814-4848864	AG09319	gingival:	n/a
47	chr7:4848934-4848984	Hepatocyte	liver:	n/a
48	chr7:4848939-4848989	HepG2	liver:	n/a
49	chr7:4848934-4848984	NHDF-neo	bronchial:	n/a
50	chr7:4848934-4848984	HEK293	kidney:	embryo

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:4849294..4851084-chr7:4854319..4857297,2	K562	blood:
2	chr7:4848580..4850603-chr7:4857701..4859317,2	MCF-7	breast:

No data

Variant related genes	Relation type
RADIL	TF binding region
RADIL	CpG island
ENSG00000157927	chromatin interactions

Extended variants
information (count: 111 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373868184	chr7:4847643-4847644	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs377023893	chr7:4847646-4847647	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs556812761	chr7:4847666-4847667	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs575276415	chr7:4847675-4847676	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs116269256	chr7:4847692-4847693	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs115576253	chr7:4847704-4847705	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs143728904	chr7:4847716-4847717	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs538625334	chr7:4847719-4847720	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs556999817	chr7:4847728-4847729	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs148028274	chr7:4847763-4847764	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs542761716	chr7:4847778-4847779	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs558665520	chr7:4847805-4847806	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs74563041	chr7:4847829-4847830	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs572974149	chr7:4847844-4847845	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs76655203	chr7:4847854-4847855	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs114938461	chr7:4847859-4847860	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs557563622	chr7:4847869-4847870	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs532347911	chr7:4847870-4847871	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs201631961	chr7:4847912-4847913	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs562550304	chr7:4847917-4847918	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs191845634	chr7:4848009-4848010	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs77757724	chr7:4848041-4848042	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs550739160	chr7:4848068-4848069	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs548297326	chr7:4848176-4848177	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs566880759	chr7:4848179-4848180	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs563661157	chr7:4848215-4848216	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs183829733	chr7:4848216-4848217	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs114539676	chr7:4848227-4848228	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs571079682	chr7:4848237-4848238	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs549116406	chr7:4848239-4848240	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs541796784	chr7:4848263-4848264	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs370673307	chr7:4848279-4848280	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs385944	chr7:4848288-4848289	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs552486143	chr7:4848304-4848305	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs528716442	chr7:4848306-4848307	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs364168	chr7:4848352-4848353	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs538166742	chr7:4848361-4848362	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs528814344	chr7:4848370-4848371	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs556963527	chr7:4848371-4848372	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs201060743	chr7:4848391-4848392	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs568895718	chr7:4848411-4848412	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs536284516	chr7:4848414-4848415	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs375098596	chr7:4848454-4848455	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs554692487	chr7:4848461-4848462	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs62450185	chr7:4848481-4848482	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs111377236	chr7:4848498-4848499	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs572890492	chr7:4848512-4848513	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs199793001	chr7:4848520-4848521	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs370409876	chr7:4848546-4848547	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs141483195	chr7:4848596-4848597	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Glioblastoma multiforme	21525872	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4832200-4847800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr7:4832400-4857600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr7:4832400-4859800	Weak transcription	Right Atrium	heart
4	chr7:4832800-4852600	Weak transcription	Brain Germinal Matrix	brain
5	chr7:4834800-4849400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:4834800-4876800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:4836200-4877600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:4837400-4850000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:4838200-4854200	Weak transcription	Right Ventricle	heart
10	chr7:4838400-4859800	Weak transcription	Left Ventricle	heart
11	chr7:4838800-4849400	Weak transcription	Fetal Lung	lung
12	chr7:4841000-4852400	Weak transcription	Brain Anterior Caudate	brain
13	chr7:4841200-4852400	Weak transcription	Fetal Brain Female	brain
14	chr7:4844000-4848000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:4844000-4858000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:4845400-4852800	Weak transcription	Lung	lung
17	chr7:4845600-4847800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:4846800-4848000	Enhancers	Brain Hippocampus Middle	brain
19	chr7:4846800-4848200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:4846800-4850000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:4846800-4876600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr7:4847200-4847800	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr7:4847200-4869600	Weak transcription	Brain Substantia Nigra	brain
24	chr7:4847400-4847800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:4847400-4848000	Enhancers	Fetal Brain Male	brain
26	chr7:4847400-4848400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:4847600-4847800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:4847600-4847800	Enhancers	Fetal Heart	heart
29	chr7:4847600-4847800	Enhancers	Fetal Kidney	kidney
30	chr7:4847600-4848800	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr7:4847800-4848000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
32	chr7:4847800-4848200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:4847800-4848200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:4847800-4848200	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr7:4847800-4848200	Bivalent Enhancer	Fetal Stomach	stomach
36	chr7:4847800-4848800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr7:4847800-4849800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr7:4847800-4859200	Weak transcription	Fetal Heart	heart
39	chr7:4848000-4848200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:4848000-4850000	Enhancers	Primary hematopoietic stem cells	blood
41	chr7:4848000-4857800	Weak transcription	Brain Hippocampus Middle	brain
42	chr7:4848000-4863200	Weak transcription	Fetal Brain Male	brain
43	chr7:4848200-4848400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr7:4848200-4848400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr7:4848200-4848400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr7:4848200-4848400	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr7:4848200-4848800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr7:4848200-4848800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
49	chr7:4848200-4849200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr7:4848200-4849600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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