Variant report

Variant	esv3381389
Chromosome Location	chr7:69841516-69843464
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542448343	chr7:69841531-69841532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191954942	chr7:69841550-69841551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531272499	chr7:69841574-69841575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182749330	chr7:69841581-69841582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375515099	chr7:69841586-69841587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs199923832	chr7:69841624-69841625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187775402	chr7:69841632-69841633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531998286	chr7:69841645-69841646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190892663	chr7:69841773-69841774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79819707	chr7:69841776-69841777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182342160	chr7:69841851-69841852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547991030	chr7:69842006-69842007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559444163	chr7:69842024-69842025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187808296	chr7:69842085-69842086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552164868	chr7:69842111-69842112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34919314	chr7:69842127-69842128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77495539	chr7:69842155-69842156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528416861	chr7:69842252-69842253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534732474	chr7:69842260-69842261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553358644	chr7:69842269-69842270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548068228	chr7:69842295-69842296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567945659	chr7:69842309-69842310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs66699281	chr7:69842345-69842346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372269202	chr7:69842349-69842350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs58244266	chr7:69842359-69842360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs61441693	chr7:69842360-69842361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192761657	chr7:69842374-69842375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535945638	chr7:69842414-69842415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12112891	chr7:69842420-69842421	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs575727390	chr7:69842452-69842453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550278619	chr7:69842474-69842475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530325150	chr7:69842536-69842537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73173583	chr7:69842547-69842548	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs564641710	chr7:69842563-69842564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573454762	chr7:69842567-69842568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143109239	chr7:69842575-69842576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369334809	chr7:69842614-69842615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141613880	chr7:69842654-69842655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35442830	chr7:69842696-69842697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111388977	chr7:69842741-69842742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529779660	chr7:69842742-69842743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547875244	chr7:69842774-69842775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563168430	chr7:69842817-69842818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184977948	chr7:69842818-69842819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572780160	chr7:69842821-69842822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373164278	chr7:69842835-69842836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547208377	chr7:69842984-69842985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147046275	chr7:69843004-69843005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556067583	chr7:69843005-69843006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570660797	chr7:69843015-69843016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
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
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
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	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
T-cell prolymphocytic leukemia	17713554	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
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Autism	19246517	CNVD
Williams Syndrome	20824207	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69832000-69842600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:69838000-69841800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:69838000-69845400	Weak transcription	Ovary	ovary
4	chr7:69838200-69847600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr7:69838400-69846600	Weak transcription	Fetal Brain Male	brain
6	chr7:69838600-69841600	Weak transcription	Colon Smooth Muscle	Colon
7	chr7:69839400-69842200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr7:69840200-69845400	Weak transcription	Aorta	Aorta
9	chr7:69840400-69841600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:69840800-69842200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:69841000-69841600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:69841000-69842200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:69841200-69841600	Weak transcription	Brain Anterior Caudate	brain
14	chr7:69841400-69841600	Enhancers	Right Atrium	heart
15	chr7:69841400-69841800	Enhancers	Left Ventricle	heart
16	chr7:69841400-69842000	Enhancers	Brain Germinal Matrix	brain
17	chr7:69841400-69842000	Enhancers	Fetal Brain Female	brain
18	chr7:69841400-69842000	Enhancers	Fetal Heart	heart
19	chr7:69841400-69842200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:69841600-69841800	Enhancers	Brain Anterior Caudate	brain
21	chr7:69841600-69842000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:69841600-69842200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr7:69841600-69842200	Enhancers	Colon Smooth Muscle	Colon
24	chr7:69841600-69845400	Weak transcription	Lung	lung
25	chr7:69841800-69842200	Enhancers	Rectal Smooth Muscle	rectum
26	chr7:69841800-69847600	Weak transcription	Brain Anterior Caudate	brain
27	chr7:69841800-69852200	Weak transcription	Left Ventricle	heart
28	chr7:69842000-69844600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:69842000-69845400	Weak transcription	Right Atrium	heart
30	chr7:69842000-69847000	Weak transcription	Fetal Brain Female	brain
31	chr7:69842000-69849000	Weak transcription	Fetal Heart	heart
32	chr7:69842200-69844200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:69842200-69844400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:69842200-69845000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr7:69842200-69849200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links