Variant report

Variant	esv3390664
Chromosome Location	chr7:136656212-136659510
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 136 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111364083	chr7:136656286-136656287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs193026149	chr7:136656347-136656348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184888322	chr7:136656352-136656353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201399339	chr7:136656381-136656382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10708408	chr7:136656384-136656385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192073395	chr7:136656412-136656413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6960587	chr7:136656478-136656479	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs184297543	chr7:136656516-136656517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148616352	chr7:136656562-136656563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs55738116	chr7:136656565-136656566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570843034	chr7:136656592-136656593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142306709	chr7:136656672-136656673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34537880	chr7:136656723-136656724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117941864	chr7:136656728-136656729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567171703	chr7:136656733-136656734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536014504	chr7:136656749-136656750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547875416	chr7:136656786-136656787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189438653	chr7:136656816-136656817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146810696	chr7:136656819-136656820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537530492	chr7:136656821-136656822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs180984274	chr7:136656831-136656832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577217576	chr7:136656846-136656847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184119478	chr7:136656870-136656871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs62487061	chr7:136656874-136656875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542113762	chr7:136656875-136656876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553609720	chr7:136656877-136656878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190671062	chr7:136656888-136656889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542780886	chr7:136656941-136656942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73447129	chr7:136657067-136657068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182297042	chr7:136657068-136657069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544369937	chr7:136657089-136657090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564616250	chr7:136657112-136657113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533315825	chr7:136657163-136657164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186232468	chr7:136657250-136657251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs553008888	chr7:136657274-136657275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190598272	chr7:136657293-136657294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529579828	chr7:136657299-136657300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549687302	chr7:136657300-136657301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144044776	chr7:136657302-136657303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140539083	chr7:136657327-136657328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144200263	chr7:136657335-136657336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146529575	chr7:136657358-136657359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112327079	chr7:136657390-136657391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533510668	chr7:136657408-136657409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553374777	chr7:136657451-136657452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573331602	chr7:136657452-136657453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs386718216	chr7:136657474-136657475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79249348	chr7:136657476-136657477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536139321	chr7:136657485-136657486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs364050	chr7:136657510-136657511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Neuroticism	17667963	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute myeloid leukemia	17237825	CNVD
Esophageal cancer	21851588	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136649400-136656600	Weak transcription	Fetal Stomach	stomach
2	chr7:136653200-136660400	Weak transcription	Fetal Heart	heart
3	chr7:136656000-136657000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr7:136656000-136657200	Enhancers	Colon Smooth Muscle	Colon
5	chr7:136656200-136656600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr7:136656600-136657200	Enhancers	Rectal Smooth Muscle	rectum
7	chr7:136656600-136657400	Enhancers	Fetal Stomach	stomach
8	chr7:136657000-136658000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:136657200-136659000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr7:136657200-136661600	Weak transcription	Colon Smooth Muscle	Colon
11	chr7:136657400-136661400	Weak transcription	Fetal Stomach	stomach
12	chr7:136658000-136658400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:136658400-136661200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:136659000-136659200	Enhancers	Rectal Smooth Muscle	rectum
15	chr7:136659200-136661400	Weak transcription	Rectal Smooth Muscle	rectum

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