Variant report

Variant	esv3370950
Chromosome Location	chr7:6547427-6548525
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6541964..6545996-chr7:6546800..6549452,3	K562	blood:
2	chr7:6485983..6488895-chr7:6545681..6548123,2	MCF-7	breast:
3	chr7:6546221..6548290-chr7:6549195..6551160,2	MCF-7	breast:
4	chr7:6535473..6537831-chr7:6547857..6549421,2	MCF-7	breast:
5	chr7:6545468..6547666-chr7:6625864..6628831,2	K562	blood:
6	chr7:6521451..6526537-chr7:6541616..6547791,14	MCF-7	breast:

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

Extended variants
information (count: 38 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35948901	chr7:6547467-6547468	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs544786858	chr7:6547485-6547486	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs563201107	chr7:6547504-6547505	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs147543975	chr7:6547508-6547509	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs548640207	chr7:6547520-6547521	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs139396652	chr7:6547565-6547566	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs149987777	chr7:6547583-6547584	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs192199384	chr7:6547592-6547593	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs200143110	chr7:6547611-6547612	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs564393205	chr7:6547659-6547660	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs200414322	chr7:6547660-6547661	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs538475902	chr7:6547742-6547743	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs556723179	chr7:6547760-6547761	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs568854128	chr7:6547762-6547763	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs536138132	chr7:6547845-6547846	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs58020378	chr7:6547883-6547884	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs112305062	chr7:6547902-6547903	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs184043502	chr7:6547908-6547909	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs73674127	chr7:6547976-6547977	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs558639520	chr7:6547981-6547982	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs576989010	chr7:6548002-6548003	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs186545008	chr7:6548038-6548039	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs563061460	chr7:6548110-6548111	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs530274294	chr7:6548144-6548145	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374958506	chr7:6548199-6548200	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529166941	chr7:6548251-6548252	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs56130456	chr7:6548254-6548255	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs398003545	chr7:6548256-6548257	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373279970	chr7:6548281-6548282	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574181141	chr7:6548286-6548287	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565641103	chr7:6548290-6548291	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191363881	chr7:6548357-6548358	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527708652	chr7:6548383-6548384	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552269118	chr7:6548390-6548391	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182371273	chr7:6548391-6548392	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531684528	chr7:6548485-6548486	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550409076	chr7:6548491-6548492	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568714781	chr7:6548505-6548506	Weak transcription Genic enhancers	n/a	n/a	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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6544800-6552600	Weak transcription	Brain Anterior Caudate	brain
2	chr7:6544800-6554000	Weak transcription	Gastric	stomach
3	chr7:6544800-6556200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr7:6544800-6556200	Weak transcription	Colonic Mucosa	Colon
5	chr7:6544800-6556200	Weak transcription	Esophagus	oesophagus
6	chr7:6544800-6556200	Weak transcription	Right Atrium	heart
7	chr7:6545000-6549000	Weak transcription	Fetal Intestine Small	intestine
8	chr7:6545000-6556000	Weak transcription	Primary B cells from cord blood	blood
9	chr7:6545000-6556000	Weak transcription	Primary T cells from cord blood	blood
10	chr7:6545000-6556200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:6545000-6556200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr7:6545000-6556200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr7:6545200-6556000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr7:6545400-6552400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:6545600-6556400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:6545800-6548800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr7:6546000-6556200	Weak transcription	Pancreas	Pancrea
18	chr7:6546200-6554600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr7:6546200-6556200	Weak transcription	Fetal Stomach	stomach
20	chr7:6546600-6556200	Weak transcription	Fetal Brain Female	brain
21	chr7:6547400-6548000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:6547800-6549000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr7:6548000-6550800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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