Variant report

Variant	esv1828455
Chromosome Location	chr7:33177828-33179557
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:33179137..33181368-chr7:33185643..33187342,2	MCF-7	breast:
2	chr7:33179229..33183198-chr7:33185335..33188130,3	K562	blood:
3	chr7:33173373..33176159-chr7:33177718..33179831,2	K562	blood:
4	chr7:33167291..33169895-chr7:33178548..33180361,2	K562	blood:

Variant related genes	Relation type
ENSG00000228015	chromatin interactions
ENSG00000122507	chromatin interactions

Extended variants
information (count: 68 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11423938	chr7:33177908-33177909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561227154	chr7:33177909-33177910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs398004308	chr7:33177916-33177917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144854873	chr7:33177938-33177939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182268345	chr7:33178091-33178092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568515817	chr7:33178099-33178100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372714962	chr7:33178128-33178129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535674609	chr7:33178144-33178145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35554129	chr7:33178167-33178168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540601081	chr7:33178174-33178175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6973757	chr7:33178189-33178190	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs187234231	chr7:33178207-33178208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76833711	chr7:33178208-33178209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74915071	chr7:33178249-33178250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs118114369	chr7:33178254-33178255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112807608	chr7:33178333-33178334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201920557	chr7:33178376-33178377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576421759	chr7:33178388-33178389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536905585	chr7:33178399-33178400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572074990	chr7:33178401-33178402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573723980	chr7:33178415-33178416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10260593	chr7:33178416-33178417	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs190863214	chr7:33178461-33178462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148398308	chr7:33178509-33178510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560062679	chr7:33178543-33178544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182298186	chr7:33178551-33178552	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs75485071	chr7:33178569-33178570	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs78752623	chr7:33178570-33178571	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs76203203	chr7:33178571-33178572	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs11980044	chr7:33178576-33178577	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs116188250	chr7:33178587-33178588	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs185496281	chr7:33178636-33178637	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs550179769	chr7:33178637-33178638	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs562423895	chr7:33178639-33178640	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs190207087	chr7:33178694-33178695	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs143458982	chr7:33178719-33178720	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs182796246	chr7:33178723-33178724	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs368927497	chr7:33178724-33178725	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs536328721	chr7:33178729-33178730	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs569902317	chr7:33178732-33178733	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs537471939	chr7:33178747-33178748	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs555339353	chr7:33178778-33178779	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs188568973	chr7:33178791-33178792	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs534944250	chr7:33178796-33178797	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs553199903	chr7:33178804-33178805	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs201014300	chr7:33178879-33178880	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs199766750	chr7:33178893-33178894	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs554332826	chr7:33178902-33178903	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs544731756	chr7:33178925-33178926	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs192949399	chr7:33178992-33178993	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21935476	CNVD
Colorectal cancer	21645411	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Williams-beuren syndrome	18553513	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33170000-33178400	Weak transcription	Left Ventricle	heart
2	chr7:33170200-33182000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:33170200-33185000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:33170200-33188400	Weak transcription	Psoas Muscle	Psoas
5	chr7:33170200-33205800	Weak transcription	Aorta	Aorta
6	chr7:33171000-33182200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr7:33171000-33184000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr7:33171200-33196200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr7:33171200-33205800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr7:33171200-33206600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr7:33176400-33206000	Weak transcription	Liver	Liver
12	chr7:33177200-33193200	Weak transcription	Ovary	ovary
13	chr7:33178400-33178600	Enhancers	Left Ventricle	heart
14	chr7:33178600-33178800	Weak transcription	Left Ventricle	heart
15	chr7:33179400-33179600	Active TSS	Fetal Brain Male	brain

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