Variant report

Variant	esv3398087
Chromosome Location	chr7:33339761-33355341
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:33347526..33349125-chr7:33353046..33355911,2	K562	blood:
2	chr7:33354992..33357519-chr7:33360634..33362706,2	K562	blood:
3	chr7:33347526..33349125-chr7:33353046..33355911,2	K562	blood:

Extended variants
information (count: 580 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:580 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199714264	chr7:33339806-33339807	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529346491	chr7:33339815-33339816	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139671314	chr7:33339828-33339829	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542881606	chr7:33339841-33339842	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539602595	chr7:33339845-33339846	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554727703	chr7:33339870-33339871	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113026435	chr7:33339926-33339927	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569838819	chr7:33339935-33339936	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112046174	chr7:33339945-33339946	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536709334	chr7:33340001-33340002	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs555085976	chr7:33340046-33340047	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs143607061	chr7:33340155-33340156	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs534344541	chr7:33340158-33340159	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs554028819	chr7:33340168-33340169	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs572618216	chr7:33340171-33340172	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs377652001	chr7:33340224-33340225	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs374179445	chr7:33340225-33340226	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs546499956	chr7:33340289-33340290	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs370898574	chr7:33340330-33340331	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs564474226	chr7:33340409-33340410	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs375015132	chr7:33340410-33340411	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs12537278	chr7:33340421-33340422	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs562209995	chr7:33340429-33340430	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs529279639	chr7:33340437-33340438	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs547843968	chr7:33340456-33340457	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs112397307	chr7:33340458-33340459	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs576197333	chr7:33340466-33340467	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs10279081	chr7:33340516-33340517	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs187671769	chr7:33340576-33340577	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs10250045	chr7:33340601-33340602	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs369093811	chr7:33340615-33340616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192823609	chr7:33340662-33340663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184810541	chr7:33340682-33340683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534428610	chr7:33340725-33340726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12537875	chr7:33340783-33340784	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs577568060	chr7:33340790-33340791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539703022	chr7:33340806-33340807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558468944	chr7:33340835-33340836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139601269	chr7:33340863-33340864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62451183	chr7:33340872-33340873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144333167	chr7:33340895-33340896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562146323	chr7:33341025-33341026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76080160	chr7:33341064-33341065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564822456	chr7:33341071-33341072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28789535	chr7:33341081-33341082	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs540920307	chr7:33341111-33341112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145341452	chr7:33341127-33341128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559438207	chr7:33341135-33341136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149191847	chr7:33341141-33341142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563630969	chr7:33341180-33341181	Weak transcription	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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33317000-33347600	Weak transcription	Pancreas	Pancrea
2	chr7:33328000-33354600	Weak transcription	Ovary	ovary
3	chr7:33334200-33357200	Weak transcription	Gastric	stomach
4	chr7:33339600-33339800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
5	chr7:33339600-33340000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:33339600-33340000	ZNF genes & repeats	Primary T cells from cord blood	blood
7	chr7:33339600-33340000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:33339600-33340000	ZNF genes & repeats	Liver	Liver
9	chr7:33339600-33340000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
10	chr7:33339600-33340000	ZNF genes & repeats	Fetal Lung	lung
11	chr7:33339600-33340000	ZNF genes & repeats	Left Ventricle	heart
12	chr7:33339800-33340000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
13	chr7:33339800-33340000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:33339800-33340600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
15	chr7:33340000-33344000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:33340000-33346600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:33340000-33351200	Weak transcription	Left Ventricle	heart
18	chr7:33340000-33354400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr7:33340000-33358600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr7:33343200-33344600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr7:33343200-33346200	Weak transcription	Fetal Lung	lung
22	chr7:33343200-33361600	Weak transcription	Brain Angular Gyrus	brain
23	chr7:33343400-33344200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr7:33343800-33344200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:33343800-33344200	ZNF genes & repeats	Lung	lung
26	chr7:33344000-33344200	ZNF genes & repeats	Fetal Muscle Leg	muscle
27	chr7:33344000-33344200	ZNF genes & repeats	Spleen	Spleen
28	chr7:33344000-33344400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:33344000-33344400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr7:33344000-33344400	ZNF genes & repeats	Fetal Stomach	stomach
31	chr7:33344200-33344800	Weak transcription	Fetal Muscle Leg	muscle
32	chr7:33344200-33349800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr7:33344200-33355200	Weak transcription	Lung	lung
34	chr7:33344200-33359000	Weak transcription	Spleen	Spleen
35	chr7:33344400-33344600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:33346200-33347800	Enhancers	Fetal Lung	lung
37	chr7:33347400-33347600	Weak transcription	Psoas Muscle	Psoas
38	chr7:33347400-33354600	Weak transcription	Aorta	Aorta
39	chr7:33347600-33347800	Enhancers	Pancreas	Pancrea
40	chr7:33347600-33347800	Enhancers	Psoas Muscle	Psoas
41	chr7:33347800-33348000	Enhancers	Brain Anterior Caudate	brain
42	chr7:33347800-33349400	Weak transcription	Psoas Muscle	Psoas
43	chr7:33347800-33350000	Weak transcription	Fetal Lung	lung
44	chr7:33348000-33348600	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr7:33348400-33349800	Enhancers	HSMMtube	muscle
46	chr7:33349400-33349800	Enhancers	Psoas Muscle	Psoas
47	chr7:33349600-33350400	Enhancers	Brain Anterior Caudate	brain
48	chr7:33349600-33350400	Enhancers	Fetal Muscle Leg	muscle
49	chr7:33349800-33350600	Weak transcription	Psoas Muscle	Psoas
50	chr7:33350000-33350400	Enhancers	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links