Variant report

Variant	nsv527148
Chromosome Location	chr7:136685871-136687403
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1035609	chr7:136685871-136685872	Enhancers Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541385759	chr7:136685873-136685874	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560874771	chr7:136685876-136685877	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529912073	chr7:136685961-136685962	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10242859	chr7:136685971-136685972	Enhancers Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs35986691	chr7:136686051-136686052	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34767395	chr7:136686056-136686057	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374991494	chr7:136686071-136686072	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369106940	chr7:136686087-136686088	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545723284	chr7:136686088-136686089	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373543526	chr7:136686090-136686091	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149460684	chr7:136686123-136686124	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143848594	chr7:136686154-136686155	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186111052	chr7:136686156-136686157	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191010592	chr7:136686241-136686242	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548079423	chr7:136686274-136686275	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531448109	chr7:136686340-136686341	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542648184	chr7:136686373-136686374	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556506406	chr7:136686383-136686384	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112703605	chr7:136686385-136686386	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148591818	chr7:136686408-136686409	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538777768	chr7:136686457-136686458	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373697471	chr7:136686487-136686488	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558585661	chr7:136686496-136686497	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78307453	chr7:136686560-136686561	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541288683	chr7:136686619-136686620	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147321807	chr7:136686635-136686636	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184043531	chr7:136686645-136686646	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112223143	chr7:136686701-136686702	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs324637	chr7:136686829-136686830	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs561582348	chr7:136686831-136686832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548471753	chr7:136686876-136686877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187759401	chr7:136686923-136686924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545101370	chr7:136686966-136686967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564894609	chr7:136686978-136686979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114324833	chr7:136687041-136687042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527389880	chr7:136687053-136687054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547745407	chr7:136687069-136687070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567923819	chr7:136687076-136687077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373139890	chr7:136687118-136687119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530358720	chr7:136687147-136687148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554275699	chr7:136687159-136687160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192250090	chr7:136687254-136687255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570310936	chr7:136687288-136687289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs201285839	chr7:136687320-136687321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538693415	chr7:136687339-136687340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182865748	chr7:136687400-136687401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs420817	chr7:136687403-136687404	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:82)

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
Cancer	20164919	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136674800-136694200	Weak transcription	Left Ventricle	heart
2	chr7:136683800-136686000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:136684800-136689000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:136685200-136686600	Enhancers	Fetal Heart	heart
5	chr7:136685400-136686200	Enhancers	Stomach Smooth Muscle	stomach
6	chr7:136685400-136686600	Enhancers	Colon Smooth Muscle	Colon
7	chr7:136685400-136686800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:136685400-136688200	Enhancers	Rectal Smooth Muscle	rectum
9	chr7:136685600-136686600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:136685600-136688200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:136685800-136686000	Enhancers	HSMMtube	muscle
12	chr7:136685800-136686200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr7:136685800-136686200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:136685800-136686200	Enhancers	Ovary	ovary
15	chr7:136685800-136686400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:136685800-136686600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:136685800-136686600	Enhancers	Fetal Stomach	stomach
18	chr7:136685800-136686600	Enhancers	NH-A	brain
19	chr7:136685800-136686600	Enhancers	Osteobl	bone
20	chr7:136685800-136686800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:136685800-136686800	Enhancers	NHLF	lung
22	chr7:136686000-136686200	Enhancers	Right Ventricle	heart
23	chr7:136686000-136686400	Enhancers	H9 Cell Line	embryonic stem cell
24	chr7:136686000-136686400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr7:136686000-136686400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr7:136686000-136686400	Enhancers	HUVEC	blood vessel
27	chr7:136686000-136686600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr7:136686000-136686600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr7:136686000-136686600	Enhancers	Fetal Kidney	kidney
30	chr7:136686000-136686800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr7:136686200-136686600	Enhancers	H1 Cell Line	embryonic stem cell
32	chr7:136686200-136686600	Enhancers	Gastric	stomach
33	chr7:136686200-136689200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr7:136686200-136690600	Weak transcription	Right Ventricle	heart
35	chr7:136686200-136691000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:136686200-136692200	Weak transcription	Ovary	ovary
37	chr7:136686400-136687600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr7:136686400-136688000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:136686400-136692000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:136686600-136687600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr7:136686600-136687600	Weak transcription	Fetal Heart	heart
42	chr7:136686600-136687600	Weak transcription	Fetal Kidney	kidney
43	chr7:136686600-136687800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:136686600-136687800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr7:136686600-136687800	Weak transcription	Colon Smooth Muscle	Colon
46	chr7:136686600-136690400	Weak transcription	Fetal Stomach	stomach
47	chr7:136686600-136691000	Weak transcription	Osteobl	bone
48	chr7:136686800-136687600	Weak transcription	NHLF	lung
49	chr7:136686800-136687800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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