Variant report

Variant	esv3477488
Chromosome Location	chr7:129230993-129231919
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:129226672..129231038-chr7:129231303..129234307,4	K562	blood:
2	chr7:129229009..129231952-chr7:129233633..129235471,2	K562	blood:
3	chr7:129228702..129231746-chr7:129233208..129236163,3	MCF-7	breast:
4	chr7:129226672..129231038-chr7:129231303..129234307,4	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575388978	chr7:129231033-129231034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs6975927	chr7:129231044-129231045	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs562799821	chr7:129231061-129231062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533572510	chr7:129231075-129231076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551652079	chr7:129231077-129231078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560432851	chr7:129231138-129231139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373994115	chr7:129231155-129231156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs6467253	chr7:129231175-129231176	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs191568375	chr7:129231278-129231279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538454853	chr7:129231281-129231282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537434600	chr7:129231289-129231290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548833797	chr7:129231300-129231301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7808752	chr7:129231310-129231311	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs58246287	chr7:129231341-129231342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs397957815	chr7:129231354-129231355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571208892	chr7:129231363-129231364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376572861	chr7:129231385-129231386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554044309	chr7:129231390-129231391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572247659	chr7:129231404-129231405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536595513	chr7:129231405-129231406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6976516	chr7:129231409-129231410	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs553719067	chr7:129231418-129231419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs207468602	chr7:129231463-129231464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140025662	chr7:129231467-129231468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539691968	chr7:129231501-129231502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs73464611	chr7:129231588-129231589	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs563019076	chr7:129231639-129231640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs6467254	chr7:129231657-129231658	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs371298169	chr7:129231726-129231727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575966156	chr7:129231752-129231753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545471540	chr7:129231783-129231784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541604779	chr7:129231810-129231811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560345186	chr7:129231812-129231813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs527878359	chr7:129231825-129231826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183182059	chr7:129231836-129231837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561206744	chr7:129231861-129231862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs149766474	chr7:129231869-129231870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549483844	chr7:129231889-129231890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531499661	chr7:129231915-129231916	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Endometrioid adenocarcinoma	16974079	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
Biliary cancer	19435499	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129228200-129231800	Weak transcription	Placenta	Placenta
2	chr7:129229800-129236000	Enhancers	A549	lung
3	chr7:129230200-129231800	Weak transcription	Osteobl	bone
4	chr7:129231800-129232600	Enhancers	HMEC	breast
5	chr7:129231800-129233800	Enhancers	Placenta	Placenta
6	chr7:129231800-129237000	Enhancers	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links