Variant report

Variant	esv3394436
Chromosome Location	chr7:41197327-41201125
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:41196553..41198239-chr7:41199242..41201799,2	K562	blood:
2	chr7:41200450..41202683-chr7:41278426..41280923,2	MCF-7	breast:
3	chr7:41191838..41193452-chr7:41197871..41200235,2	MCF-7	breast:
4	chr7:41196553..41198239-chr7:41199242..41201799,2	K562	blood:

Extended variants
information (count: 148 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140436896	chr7:41197346-41197347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562041057	chr7:41197350-41197351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs17623425	chr7:41197374-41197375	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs537404708	chr7:41197504-41197505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537092264	chr7:41197507-41197508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192761494	chr7:41197514-41197515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558665187	chr7:41197575-41197576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114419234	chr7:41197605-41197606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577048670	chr7:41197613-41197614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553556247	chr7:41197647-41197648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574662347	chr7:41197650-41197651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184877924	chr7:41197675-41197676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557191106	chr7:41197731-41197732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147124439	chr7:41197736-41197737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550861116	chr7:41197757-41197758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543451653	chr7:41197758-41197759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111903545	chr7:41197759-41197760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147744145	chr7:41197830-41197831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79671569	chr7:41197848-41197849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559610598	chr7:41197861-41197862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529882134	chr7:41197868-41197869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548514734	chr7:41197921-41197922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535196023	chr7:41197922-41197923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189338972	chr7:41197924-41197925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569457236	chr7:41197930-41197931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142540975	chr7:41197957-41197958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192552793	chr7:41197968-41197969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546741509	chr7:41197971-41197972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568324386	chr7:41198003-41198004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535605602	chr7:41198011-41198012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567180869	chr7:41198019-41198020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs56361180	chr7:41198124-41198125	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs62449743	chr7:41198127-41198128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35340235	chr7:41198145-41198146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs29499	chr7:41198233-41198234	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs539729457	chr7:41198263-41198264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184921181	chr7:41198300-41198301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576737096	chr7:41198332-41198333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs60134855	chr7:41198344-41198345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34136087	chr7:41198347-41198348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371695734	chr7:41198351-41198352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73085584	chr7:41198385-41198386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559452416	chr7:41198393-41198394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551915377	chr7:41198505-41198506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146679785	chr7:41198514-41198515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189355576	chr7:41198551-41198552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34115684	chr7:41198569-41198570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563454597	chr7:41198592-41198593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs29500	chr7:41198604-41198605	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs138489694	chr7:41198609-41198610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	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
Autism	22495311	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:41189400-41222400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:41195600-41197800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:41196200-41198200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:41197400-41197600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:41199600-41200200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr7:41200200-41200400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
7	chr7:41200400-41202000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr7:41200800-41201200	ZNF genes & repeats	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links