Variant report

Variant	esv3439880
Chromosome Location	chr7:6546203-6546622
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6521451..6526537-chr7:6541616..6547791,14	MCF-7	breast:
2	chr7:6546221..6548290-chr7:6549195..6551160,2	MCF-7	breast:
3	chr7:6485983..6488895-chr7:6545681..6548123,2	MCF-7	breast:
4	chr7:6545468..6547666-chr7:6625864..6628831,2	K562	blood:

Variant related genes	Relation type
ENSG00000232581	chromatin interactions
ENSG00000164535	chromatin interactions
ENSG00000269781	chromatin interactions
ENSG00000136240	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140964656	chr7:6546260-6546261	Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs13233173	chr7:6546285-6546286	Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs570987358	chr7:6546312-6546313	Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs544910190	chr7:6546318-6546319	Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs539663538	chr7:6546331-6546332	Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs372150053	chr7:6546332-6546333	Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs190489684	chr7:6546352-6546353	Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs574913465	chr7:6546431-6546432	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs73344937	chr7:6546464-6546465	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs374902199	chr7:6546488-6546489	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs557385261	chr7:6546497-6546498	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs202099396	chr7:6546506-6546507	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs115656780	chr7:6546534-6546535	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs183640122	chr7:6546561-6546562	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs370958514	chr7:6546593-6546594	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs532558315	chr7:6546606-6546607	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	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
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
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	21525872	CNVD
Autism	20685689	CNVD
Intracranial arachnoid cysts	20187927	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6544600-6546400	Bivalent Enhancer	Placenta	Placenta
2	chr7:6544800-6552600	Weak transcription	Brain Anterior Caudate	brain
3	chr7:6544800-6554000	Weak transcription	Gastric	stomach
4	chr7:6544800-6556200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:6544800-6556200	Weak transcription	Colonic Mucosa	Colon
6	chr7:6544800-6556200	Weak transcription	Esophagus	oesophagus
7	chr7:6544800-6556200	Weak transcription	Right Atrium	heart
8	chr7:6545000-6549000	Weak transcription	Fetal Intestine Small	intestine
9	chr7:6545000-6556000	Weak transcription	Primary B cells from cord blood	blood
10	chr7:6545000-6556000	Weak transcription	Primary T cells from cord blood	blood
11	chr7:6545000-6556200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:6545000-6556200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr7:6545000-6556200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr7:6545200-6556000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr7:6545400-6552400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:6545600-6556400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:6545800-6548800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr7:6546000-6556200	Weak transcription	Pancreas	Pancrea
19	chr7:6546200-6547400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:6546200-6554600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr7:6546200-6556200	Weak transcription	Fetal Stomach	stomach
22	chr7:6546600-6556200	Weak transcription	Fetal Brain Female	brain

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