Variant report

Variant	esv3427542
Chromosome Location	chr7:136836837-136839385
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 145 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1647750	chr7:136836850-136836851	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116992292	chr7:136836874-136836875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138164691	chr7:136836883-136836884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376991427	chr7:136836898-136836899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183885777	chr7:136836942-136836943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188216039	chr7:136836956-136836957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548855329	chr7:136836961-136836962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567595441	chr7:136836966-136836967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143655047	chr7:136836971-136836972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577726559	chr7:136836974-136836975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371164965	chr7:136836975-136836976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572209661	chr7:136836984-136836985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146018299	chr7:136837044-136837045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148240171	chr7:136837075-136837076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181958682	chr7:136837237-136837238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184793820	chr7:136837280-136837281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573774085	chr7:136837295-136837296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs56694999	chr7:136837300-136837301	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs562714802	chr7:136837351-136837352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141228612	chr7:136837455-136837456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544323741	chr7:136837497-136837498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1725016	chr7:136837577-136837578	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs533189725	chr7:136837582-136837583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376865163	chr7:136837625-136837626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200912062	chr7:136837630-136837631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547251853	chr7:136837632-136837633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549868445	chr7:136837654-136837655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189997154	chr7:136837655-136837656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529481283	chr7:136837665-136837666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538753965	chr7:136837670-136837671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577586023	chr7:136837676-136837677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs72320306	chr7:136837694-136837695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549263595	chr7:136837697-136837698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374135969	chr7:136837716-136837717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199566762	chr7:136837718-136837719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370457758	chr7:136837728-136837729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569494269	chr7:136837737-136837738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs117438745	chr7:136837739-136837740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577411545	chr7:136837748-136837749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543470084	chr7:136837751-136837752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376083446	chr7:136837752-136837753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377038217	chr7:136837754-136837755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371082389	chr7:136837756-136837757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370604845	chr7:136837758-136837759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150742133	chr7:136837771-136837772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374323911	chr7:136837783-136837784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557920508	chr7:136837794-136837795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200226692	chr7:136837798-136837799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563024655	chr7:136837807-136837808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571239570	chr7:136837813-136837814	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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136833000-136838800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:136834800-136837200	Enhancers	Rectal Smooth Muscle	rectum
3	chr7:136835200-136837200	Enhancers	Colon Smooth Muscle	Colon
4	chr7:136836400-136837200	Enhancers	Fetal Heart	heart
5	chr7:136837200-136838400	Weak transcription	Colon Smooth Muscle	Colon
6	chr7:136838400-136838800	Enhancers	Colon Smooth Muscle	Colon
7	chr7:136838800-136839000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:136839000-136839600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links