Variant report

Variant	esv1796696
Chromosome Location	chr7:33236199-33243642
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:33237473..33239165-chr7:33243368..33246191,2	K562	blood:
2	chr7:33237252..33238973-chr7:33242666..33244868,2	K562	blood:
3	chr7:33237473..33239165-chr7:33243368..33246191,2	K562	blood:
4	chr7:33228994..33231017-chr7:33236127..33239068,2	K562	blood:
5	chr7:33237252..33238973-chr7:33242666..33244868,2	K562	blood:

Extended variants
information (count: 263 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:263 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10486519	chr7:33236199-33236200	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149826756	chr7:33236202-33236203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534020562	chr7:33236210-33236211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115499216	chr7:33236223-33236224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115772555	chr7:33236248-33236249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144819282	chr7:33236251-33236252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556459090	chr7:33236262-33236263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539995850	chr7:33236271-33236272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186756021	chr7:33236273-33236274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs964707	chr7:33236298-33236299	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs560370054	chr7:33236299-33236300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192883480	chr7:33236308-33236309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552273505	chr7:33236339-33236340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570954359	chr7:33236344-33236345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564250789	chr7:33236412-33236413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148590477	chr7:33236415-33236416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549374963	chr7:33236416-33236417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534767323	chr7:33236418-33236419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573572715	chr7:33236453-33236454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530346998	chr7:33236686-33236687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546798594	chr7:33236710-33236711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73319418	chr7:33236752-33236753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548499442	chr7:33236790-33236791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373692129	chr7:33236791-33236792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566943429	chr7:33236798-33236799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183069472	chr7:33236800-33236801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188550762	chr7:33236810-33236811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552342951	chr7:33236848-33236849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535648796	chr7:33236868-33236869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570936077	chr7:33236875-33236876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142496535	chr7:33236912-33236913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376638638	chr7:33236927-33236928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556619949	chr7:33236979-33236980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146416514	chr7:33237008-33237009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111935069	chr7:33237019-33237020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542537538	chr7:33237046-33237047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535729219	chr7:33237055-33237056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554146242	chr7:33237060-33237061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76208531	chr7:33237241-33237242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545979486	chr7:33237242-33237243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs140836077	chr7:33237289-33237290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576102718	chr7:33237353-33237354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542986835	chr7:33237360-33237361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs10254116	chr7:33237489-33237490	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs528897754	chr7:33237523-33237524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575830363	chr7:33237550-33237551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542114709	chr7:33237591-33237592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs56271710	chr7:33237662-33237663	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs111493077	chr7:33237686-33237687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527842815	chr7:33237688-33237689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
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
Melanoma	18172304	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
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21935476	CNVD
Colorectal cancer	21645411	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Williams-beuren syndrome	18553513	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33217000-33239200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:33217800-33252400	Weak transcription	Aorta	Aorta
3	chr7:33218200-33252200	Weak transcription	Left Ventricle	heart
4	chr7:33220600-33237000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:33221000-33236200	Weak transcription	Brain Anterior Caudate	brain
6	chr7:33221000-33236400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr7:33230800-33237000	Weak transcription	Primary T cells from cord blood	blood
8	chr7:33230800-33248000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr7:33231200-33238200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr7:33233200-33236800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:33233400-33236400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:33233400-33236600	Enhancers	Osteobl	bone
13	chr7:33234400-33236400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:33234400-33236400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr7:33234600-33236200	Enhancers	Psoas Muscle	Psoas
16	chr7:33234600-33236400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:33235400-33236200	Enhancers	HSMMtube	muscle
18	chr7:33235800-33236400	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr7:33236000-33236200	Enhancers	Brain Cingulate Gyrus	brain
20	chr7:33236000-33236200	Enhancers	Colon Smooth Muscle	Colon
21	chr7:33236000-33236400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:33236000-33236400	Enhancers	Fetal Heart	heart
23	chr7:33236000-33236400	Enhancers	Fetal Muscle Leg	muscle
24	chr7:33236000-33236600	Enhancers	NH-A	brain
25	chr7:33236200-33236600	Enhancers	Brain Anterior Caudate	brain
26	chr7:33236200-33240200	Weak transcription	Colon Smooth Muscle	Colon
27	chr7:33236400-33236600	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr7:33236400-33239800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:33236400-33240000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr7:33236400-33244400	Weak transcription	Fetal Muscle Leg	muscle
31	chr7:33236400-33247800	Weak transcription	Fetal Heart	heart
32	chr7:33236600-33236800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr7:33236600-33239800	Weak transcription	Osteobl	bone
34	chr7:33236800-33249200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:33237000-33239000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:33238200-33238400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr7:33239600-33240800	Enhancers	HepG2	liver
38	chr7:33239800-33241800	Enhancers	Osteobl	bone
39	chr7:33239800-33242600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:33240000-33241800	Enhancers	Muscle Satellite Cultured Cells	--
41	chr7:33240200-33240400	Enhancers	Colon Smooth Muscle	Colon
42	chr7:33240400-33240600	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr7:33240600-33249800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr7:33241200-33243200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr7:33242600-33248000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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