Variant report

Variant	esv20423
Chromosome Location	chr7:79948934-79950361
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568768157	chr7:79948952-79948953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11768029	chr7:79948970-79948971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11765698	chr7:79948971-79948972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187122351	chr7:79948986-79948987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs37922	chr7:79948988-79948989	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs140411363	chr7:79948989-79948990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143531117	chr7:79948990-79948991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553561452	chr7:79949062-79949063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567259998	chr7:79949079-79949080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535832483	chr7:79949085-79949086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556856702	chr7:79949144-79949145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs28875814	chr7:79949150-79949151	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs148039414	chr7:79949181-79949182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191504562	chr7:79949196-79949197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559178193	chr7:79949200-79949201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572641071	chr7:79949201-79949202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541535396	chr7:79949204-79949205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs373148345	chr7:79949211-79949212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73382632	chr7:79949233-79949234	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs370097122	chr7:79949271-79949272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73382633	chr7:79949417-79949418	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs184130657	chr7:79949424-79949425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187756456	chr7:79949433-79949434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs141457935	chr7:79949449-79949450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs37923	chr7:79949518-79949519	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs369430357	chr7:79949528-79949529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372509546	chr7:79949541-79949542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547479162	chr7:79949558-79949559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs37924	chr7:79949563-79949564	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs536292156	chr7:79949619-79949620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552596773	chr7:79949624-79949625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369469215	chr7:79949639-79949640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191469141	chr7:79949726-79949727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535029343	chr7:79949769-79949770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538493480	chr7:79949777-79949778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570396444	chr7:79949782-79949783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539354956	chr7:79949784-79949785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs29001555	chr7:79949785-79949786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559265829	chr7:79949797-79949798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548683136	chr7:79949814-79949815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182106364	chr7:79949825-79949826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs35823887	chr7:79949852-79949853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370202109	chr7:79949872-79949873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373350110	chr7:79949918-79949919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537240084	chr7:79949944-79949945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1850284	chr7:79949966-79949967	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs144411415	chr7:79949987-79949988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143887294	chr7:79950022-79950023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576800092	chr7:79950080-79950081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186750966	chr7:79950104-79950105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Williams Syndrome	20824207	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21611746	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79937200-79949000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:79942800-79952800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:79943800-79952600	Weak transcription	NHEK	skin
4	chr7:79947800-79952400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:79947800-79952800	Weak transcription	HMEC	breast
6	chr7:79947800-79955400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:79947800-79956800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:79949000-79950200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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