Variant report

Variant	esv3338754
Chromosome Location	chr7:112435666-112439014
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	chr7:112429386..112431628-chr7:112438433..112441266,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146802	chromatin interactions

Extended variants
information (count: 161 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:161 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6955834	chr7:112435669-112435670	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs200464720	chr7:112435706-112435707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550129778	chr7:112435729-112435730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568338081	chr7:112435741-112435742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186530683	chr7:112435788-112435789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191747999	chr7:112435790-112435791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572310546	chr7:112435793-112435794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539643049	chr7:112435795-112435796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558271288	chr7:112435801-112435802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576856218	chr7:112435808-112435809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543943679	chr7:112435820-112435821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs202176843	chr7:112435879-112435880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149887636	chr7:112435883-112435884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574310332	chr7:112435894-112435895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183707378	chr7:112435910-112435911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567581532	chr7:112435944-112435945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527520234	chr7:112435945-112435946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552382636	chr7:112435947-112435948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564602157	chr7:112436106-112436107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115847432	chr7:112436109-112436110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572561448	chr7:112436155-112436156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549974948	chr7:112436185-112436186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187208085	chr7:112436248-112436249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs117065019	chr7:112436254-112436255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547732084	chr7:112436306-112436307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566024794	chr7:112436307-112436308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575164116	chr7:112436317-112436318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539679332	chr7:112436412-112436413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190984123	chr7:112436414-112436415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577435140	chr7:112436438-112436439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527531641	chr7:112436455-112436456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576525577	chr7:112436467-112436468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183126528	chr7:112436504-112436505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186773761	chr7:112436513-112436514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560884490	chr7:112436517-112436518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371563447	chr7:112436519-112436520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200268226	chr7:112436531-112436532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368514787	chr7:112436534-112436535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372603137	chr7:112436537-112436538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs367976586	chr7:112436544-112436545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376738822	chr7:112436550-112436551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372530767	chr7:112436551-112436552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373677078	chr7:112436553-112436554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192646742	chr7:112436561-112436562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184970619	chr7:112436568-112436569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188237228	chr7:112436587-112436588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192566802	chr7:112436597-112436598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111219584	chr7:112436608-112436609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537954234	chr7:112436609-112436610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555937373	chr7:112436612-112436613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
Acute lymphoblastic leukemia	21248843	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112430800-112440400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:112434800-112438400	Weak transcription	K562	blood
3	chr7:112438400-112440800	Enhancers	Fetal Heart	heart
4	chr7:112438400-112440800	Enhancers	K562	blood
5	chr7:112438400-112441800	Enhancers	Fetal Lung	lung
6	chr7:112438800-112439200	Active TSS	Fetal Brain Male	brain
7	chr7:112438800-112439400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:112438800-112439600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:112438800-112439600	Enhancers	Ovary	ovary
10	chr7:112439000-112441000	Enhancers	Fetal Stomach	stomach

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