Variant report

Variant	esv274910
Chromosome Location	chr7:96946369-96968328
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:96946869..96947558-chr7:97448317..97449019,2	MCF-7	breast:
2	chr7:96967457..96970176-chr7:96971175..96973583,2	K562	blood:
3	chr7:96951428..96954107-chr7:96956426..96958827,2	K562	blood:
4	chr7:96951428..96954107-chr7:96956426..96958827,2	K562	blood:

Extended variants
information (count: 120 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34378052	chr7:96946404-96946405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7796040	chr7:96946412-96946413	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs566158695	chr7:96946427-96946428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534841547	chr7:96946439-96946440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558247734	chr7:96946468-96946469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577929833	chr7:96946469-96946470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7796570	chr7:96946490-96946491	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs10267932	chr7:96946502-96946503	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs386715959	chr7:96946523-96946524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7796197	chr7:96946524-96946525	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs113072634	chr7:96946587-96946588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7796739	chr7:96946623-96946624	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs184399716	chr7:96946632-96946633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9692573	chr7:96946643-96946644	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs12538310	chr7:96946661-96946662	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs9691916	chr7:96946699-96946700	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs189040479	chr7:96946732-96946733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563968414	chr7:96946827-96946828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529641899	chr7:96946865-96946866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78330148	chr7:96946870-96946871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566244049	chr7:96946871-96946872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs56924078	chr7:96946872-96946873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565113875	chr7:96946959-96946960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79366457	chr7:96946979-96946980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551535752	chr7:96947011-96947012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571723938	chr7:96947026-96947027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs56966506	chr7:96947031-96947032	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs182479658	chr7:96947070-96947071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573573652	chr7:96947076-96947077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374505197	chr7:96947105-96947106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10661791	chr7:96947138-96947139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs35420685	chr7:96947139-96947140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10645956	chr7:96947145-96947146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371204234	chr7:96947146-96947147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536174663	chr7:96947171-96947172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs11767282	chr7:96959202-96959203	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs536515671	chr7:96959224-96959225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553252183	chr7:96959233-96959234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573060216	chr7:96959234-96959235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146537199	chr7:96959241-96959242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs369714620	chr7:96959247-96959248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557734939	chr7:96959289-96959290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575676320	chr7:96959299-96959300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544709456	chr7:96959324-96959325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561098040	chr7:96959325-96959326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs75306087	chr7:96959334-96959335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139102086	chr7:96959338-96959339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560476303	chr7:96959344-96959345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532346752	chr7:96959389-96959390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552432484	chr7:96959394-96959395	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myoclonus-dystonia	17898012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164920	CNVD
abnormal development	18461090	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:96943800-96947000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:96947000-96947200	Enhancers	H9 Cell Line	embryonic stem cell
3	chr7:96959200-96959600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr7:96959400-96959600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:96965800-96966200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:96966200-96967200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:96967200-96967400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links