Variant report

Variant	esv3476600
Chromosome Location	chr7:110428287-110432612
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:110422745..110424624-chr7:110429352..110432249,2	K562	blood:
2	chr7:110408784..110410913-chr7:110425849..110428587,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 91 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145197520	chr7:110430211-110430212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565614438	chr7:110430254-110430255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148706986	chr7:110430305-110430306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546636505	chr7:110430345-110430346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561485737	chr7:110430428-110430429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs180675567	chr7:110430439-110430440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534977503	chr7:110430478-110430479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550854614	chr7:110430539-110430540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549288561	chr7:110430583-110430584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569056853	chr7:110430590-110430591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116155169	chr7:110430623-110430624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557885888	chr7:110430624-110430625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577767895	chr7:110430710-110430711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs199756764	chr7:110430713-110430714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1528033	chr7:110430736-110430737	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs553457252	chr7:110430775-110430776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573608463	chr7:110430802-110430803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs56044138	chr7:110430813-110430814	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs562082165	chr7:110430836-110430837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575426941	chr7:110430860-110430861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544352511	chr7:110430869-110430870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs56298427	chr7:110430900-110430901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564348521	chr7:110430933-110430934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557520458	chr7:110430993-110430994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533234505	chr7:110431068-110431069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547092718	chr7:110431113-110431114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537682768	chr7:110431146-110431147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371649415	chr7:110431151-110431152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560266977	chr7:110431185-110431186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529324169	chr7:110431202-110431203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10254701	chr7:110431223-110431224	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs377163121	chr7:110431238-110431239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185055720	chr7:110431245-110431246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575795450	chr7:110431305-110431306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs367768975	chr7:110431312-110431313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548574712	chr7:110431325-110431326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs147896638	chr7:110431364-110431365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571485322	chr7:110431457-110431458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142200931	chr7:110431466-110431467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553864355	chr7:110431524-110431525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573545717	chr7:110431529-110431530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs536288055	chr7:110431538-110431539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs5886576	chr7:110431575-110431576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs398005841	chr7:110431579-110431580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs555742286	chr7:110431583-110431584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575491407	chr7:110431633-110431634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570021143	chr7:110431658-110431659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs6970864	chr7:110431687-110431688	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs145928411	chr7:110431750-110431751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs147862104	chr7:110431781-110431782	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
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
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
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	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
Autism	19401682	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	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Dyslexia	22102821	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110430200-110431200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:110431000-110431800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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