Variant report

Variant	esv3353482
Chromosome Location	chr7:56438681-56441075
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71229719	chr7:56438727-56438728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs67579676	chr7:56438872-56438873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199873127	chr7:56438883-56438884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs61459280	chr7:56438954-56438955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4948138	chr7:56438958-56438959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4948139	chr7:56438963-56438964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4948140	chr7:56438977-56438978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4612294	chr7:56439008-56439009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4526315	chr7:56439107-56439108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4259376	chr7:56439119-56439120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111466899	chr7:56439124-56439125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71228413	chr7:56439157-56439158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs71229718	chr7:56439178-56439179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4948141	chr7:56439268-56439269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4386933	chr7:56439340-56439341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4495379	chr7:56439370-56439371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577143256	chr7:56439393-56439394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71248036	chr7:56439394-56439395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4947541	chr7:56439421-56439422	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs544053131	chr7:56439441-56439442	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs140774664	chr7:56439442-56439443	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs4472466	chr7:56439453-56439454	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs4947542	chr7:56439464-56439465	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs4948143	chr7:56439470-56439471	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs377633014	chr7:56439513-56439514	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs4947543	chr7:56439536-56439537	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs4948144	chr7:56439559-56439560	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs567309277	chr7:56439678-56439679	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs150400133	chr7:56439689-56439690	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs534713123	chr7:56439697-56439698	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs553079109	chr7:56439700-56439701	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs577728486	chr7:56439701-56439702	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs374301130	chr7:56439734-56439735	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs545005097	chr7:56439829-56439830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145151346	chr7:56439949-56439950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149138616	chr7:56440306-56440307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201393341	chr7:56440469-56440470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150255710	chr7:56440694-56440695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370292754	chr7:56440719-56440720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374054765	chr7:56440762-56440763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368100291	chr7:56440799-56440800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370405489	chr7:56440811-56440812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79747251	chr7:56440834-56440835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553422113	chr7:56440884-56440885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373565286	chr7:56440885-56440886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573234593	chr7:56440896-56440897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539344606	chr7:56440916-56440917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs202106937	chr7:56440919-56440920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559340924	chr7:56440951-56440952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376807163	chr7:56440952-56440953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Wilms tumour	21544195	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	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
Esophageal squamous carcinoma	21637470	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Intracranial ependymoma	16609018	CNVD
Lung cancer	21911935	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17925434	CNVD
Glioma	24330732	CNVD
Lung adenocarcinoma	23938291	CNVD
Glioma	17634744	CNVD
Oral squamous cell carcinoma	19276369	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Glioma	17123091	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Medullary thyroid carcinoma	18765511	CNVD
small cell lung cancer	20016488	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56434200-56439400	Weak transcription	Right Atrium	heart
2	chr7:56439000-56439600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:56439400-56439800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
4	chr7:56439400-56439800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:56439400-56439800	ZNF genes & repeats	Pancreas	Pancrea
6	chr7:56439400-56439800	ZNF genes & repeats	Right Atrium	heart
7	chr7:56439400-56439800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
8	chr7:56439400-56439800	ZNF genes & repeats	Spleen	Spleen
9	chr7:56439600-56439800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
10	chr7:56439600-56439800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:56439600-56439800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:56439600-56439800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:56439600-56439800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:56439600-56439800	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
15	chr7:56439600-56439800	ZNF genes & repeats	Aorta	Aorta
16	chr7:56439600-56439800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
17	chr7:56439600-56439800	ZNF genes & repeats	Esophagus	oesophagus
18	chr7:56439600-56439800	ZNF genes & repeats	Fetal Stomach	stomach
19	chr7:56439600-56439800	ZNF genes & repeats	Gastric	stomach
20	chr7:56439600-56439800	ZNF genes & repeats	Left Ventricle	heart
21	chr7:56439600-56439800	ZNF genes & repeats	Lung	lung
22	chr7:56439600-56439800	ZNF genes & repeats	Ovary	ovary
23	chr7:56439600-56439800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
24	chr7:56439600-56439800	ZNF genes & repeats	Right Ventricle	heart
25	chr7:56439600-56439800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
26	chr7:56439600-56439800	ZNF genes & repeats	Thymus	Thymus
27	chr7:56439600-56439800	ZNF genes & repeats	Dnd41	blood
28	chr7:56439800-56441000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr7:56439800-56441000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:56439800-56441000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:56439800-56441000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr7:56439800-56441000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:56439800-56441000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:56439800-56441000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr7:56439800-56441000	Weak transcription	Aorta	Aorta
36	chr7:56439800-56441000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr7:56439800-56441000	Weak transcription	Fetal Stomach	stomach
38	chr7:56439800-56441000	Weak transcription	Gastric	stomach
39	chr7:56439800-56441000	Weak transcription	Left Ventricle	heart
40	chr7:56439800-56441000	Weak transcription	Lung	lung
41	chr7:56439800-56441000	Weak transcription	Ovary	ovary
42	chr7:56439800-56441000	Weak transcription	Right Ventricle	heart
43	chr7:56439800-56441000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr7:56439800-56441000	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr7:56439800-56441000	Weak transcription	Thymus	Thymus
46	chr7:56439800-56441000	Weak transcription	Spleen	Spleen
47	chr7:56439800-56441000	Weak transcription	Dnd41	blood
48	chr7:56439800-56442800	Weak transcription	Right Atrium	heart
49	chr7:56441000-56441200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr7:56441000-56441200	ZNF genes & repeats	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links