Variant report

Variant	esv1812357
Chromosome Location	chr7:119375538-119388127
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:119379398..119381523-chr7:119383284..119384885,2	K562	blood:
2	chr7:119383218..119386091-chr7:119386979..119388711,2	K562	blood:
3	chr7:119364721..119367176-chr7:119381458..119383230,2	K562	blood:
4	chr7:119378597..119381783-chr7:119382170..119385913,4	K562	blood:
5	chr7:119360284..119363279-chr7:119373457..119376079,2	K562	blood:
6	chr7:119383539..119386290-chr7:119392991..119394503,2	K562	blood:
7	chr7:119379398..119381523-chr7:119383284..119384885,2	K562	blood:
8	chr7:119378597..119381783-chr7:119382170..119385913,4	K562	blood:
9	chr7:119383218..119386091-chr7:119386979..119388711,2	K562	blood:
10	chr7:119374698..119376654-chr7:119378712..119381116,2	K562	blood:
11	chr7:119374698..119376654-chr7:119378712..119381116,2	K562	blood:
12	chr7:119370722..119372961-chr7:119382422..119384559,2	K562	blood:

No data

Extended variants
information (count: 398 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:398 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11764108	chr7:119375538-119375539	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs146286720	chr7:119375549-119375550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551680734	chr7:119375609-119375610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191538374	chr7:119375615-119375616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528252979	chr7:119375646-119375647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551195001	chr7:119375730-119375731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548779467	chr7:119375760-119375761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11764197	chr7:119375804-119375805	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs530955504	chr7:119375822-119375823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550551064	chr7:119375899-119375900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138119101	chr7:119375928-119375929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183096094	chr7:119375938-119375939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553601048	chr7:119375940-119375941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113437722	chr7:119375941-119375942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539202425	chr7:119376028-119376029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559241576	chr7:119376044-119376045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531075779	chr7:119376084-119376085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188525740	chr7:119376172-119376173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543505192	chr7:119376218-119376219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557097941	chr7:119376258-119376259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11974940	chr7:119376259-119376260	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs542276049	chr7:119376291-119376292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567616896	chr7:119376333-119376334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369414754	chr7:119376350-119376351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141986007	chr7:119376411-119376412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528401190	chr7:119376412-119376413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536653198	chr7:119376430-119376431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116519345	chr7:119376495-119376496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376877283	chr7:119376496-119376497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530627819	chr7:119376522-119376523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550612410	chr7:119376564-119376565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192190725	chr7:119376592-119376593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530092214	chr7:119376726-119376727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7804447	chr7:119376746-119376747	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs565901000	chr7:119376804-119376805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555224529	chr7:119376814-119376815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183215268	chr7:119376816-119376817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539381437	chr7:119376821-119376822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371254813	chr7:119376825-119376826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552917546	chr7:119376866-119376867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566966485	chr7:119376976-119376977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116380907	chr7:119377006-119377007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538465214	chr7:119377032-119377033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557061010	chr7:119377041-119377042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573687414	chr7:119377044-119377045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374130102	chr7:119377090-119377091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536220341	chr7:119377120-119377121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188073152	chr7:119377138-119377139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536753704	chr7:119377157-119377158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs202014069	chr7:119377194-119377195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Autism	22495311	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
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:119364800-119416000	Weak transcription	K562	blood
2	chr7:119382600-119384200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:119382800-119383400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr7:119383200-119384000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:119388000-119388600	Enhancers	Fetal Brain Female	brain
6	chr7:119388000-119389200	Enhancers	HUES48 Cell Line	embryonic stem cell

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