Variant report

Variant	nsv1034380
Chromosome Location	chr7:69137914-69171449
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1104 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1104 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576272021	chr7:69137933-69137934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150484963	chr7:69137970-69137971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs17140786	chr7:69138013-69138014	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs373683650	chr7:69138069-69138070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541409860	chr7:69138137-69138138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541360033	chr7:69138207-69138208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559466199	chr7:69138248-69138249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530069006	chr7:69138266-69138267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548241153	chr7:69138337-69138338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569838509	chr7:69138346-69138347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181062013	chr7:69138356-69138357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552363798	chr7:69138400-69138401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571065696	chr7:69138405-69138406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535007149	chr7:69138414-69138415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547302030	chr7:69138451-69138452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565525802	chr7:69138455-69138456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536270593	chr7:69138486-69138487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554657530	chr7:69138497-69138498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576213176	chr7:69138502-69138503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537181452	chr7:69138545-69138546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558467048	chr7:69138553-69138554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2533430	chr7:69138567-69138568	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs540952024	chr7:69138620-69138621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559614445	chr7:69138637-69138638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559889597	chr7:69138644-69138645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541826494	chr7:69138654-69138655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs34588543	chr7:69138667-69138668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563402128	chr7:69138677-69138678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186776601	chr7:69138694-69138695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552687127	chr7:69138709-69138710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73704324	chr7:69138816-69138817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528721733	chr7:69138830-69138831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150498866	chr7:69138859-69138860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546945383	chr7:69138916-69138917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191735964	chr7:69138933-69138934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536211775	chr7:69138945-69138946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs61424317	chr7:69139023-69139024	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs569712756	chr7:69139032-69139033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558549192	chr7:69139051-69139052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576994878	chr7:69139080-69139081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537118324	chr7:69139084-69139085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78497389	chr7:69139103-69139104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73164795	chr7:69139147-69139148	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs534838140	chr7:69139148-69139149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs17140791	chr7:69139155-69139156	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs141029131	chr7:69139172-69139173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531984986	chr7:69139292-69139293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183957927	chr7:69139374-69139375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563339948	chr7:69139394-69139395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575265552	chr7:69139410-69139411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
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
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Basal cell lymphoma	21115979	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:788 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69125000-69142000	Weak transcription	Fetal Stomach	stomach
2	chr7:69125000-69142400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:69129000-69139800	Weak transcription	Fetal Lung	lung
4	chr7:69135200-69138600	Weak transcription	Brain Angular Gyrus	brain
5	chr7:69135400-69139000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:69135400-69141600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:69135400-69142800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr7:69135600-69139200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:69135800-69138000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:69135800-69138000	Weak transcription	Brain Hippocampus Middle	brain
11	chr7:69135800-69138200	Weak transcription	Brain Substantia Nigra	brain
12	chr7:69135800-69138400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:69135800-69139800	Weak transcription	Fetal Thymus	thymus
14	chr7:69135800-69141400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr7:69136000-69138000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:69136000-69138200	Weak transcription	Brain Anterior Caudate	brain
17	chr7:69136000-69139000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr7:69136000-69139800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr7:69136000-69140600	Weak transcription	Psoas Muscle	Psoas
20	chr7:69136200-69139000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr7:69136400-69138000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:69136400-69138400	Weak transcription	Colon Smooth Muscle	Colon
23	chr7:69136400-69142400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr7:69136600-69138200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr7:69136600-69139200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:69136800-69138000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:69136800-69139800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:69136800-69142200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:69137200-69140200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr7:69137400-69138600	Enhancers	Fetal Brain Male	brain
31	chr7:69137600-69138000	Enhancers	Brain Cingulate Gyrus	brain
32	chr7:69137600-69138600	Enhancers	Aorta	Aorta
33	chr7:69137600-69138600	Enhancers	Ovary	ovary
34	chr7:69137600-69138600	Enhancers	Right Ventricle	heart
35	chr7:69137600-69138800	Enhancers	Fetal Brain Female	brain
36	chr7:69137600-69139400	Enhancers	Brain Germinal Matrix	brain
37	chr7:69137600-69139800	Enhancers	GM12878-XiMat	blood
38	chr7:69137600-69140200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:69137800-69138000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr7:69137800-69138400	Enhancers	Rectal Smooth Muscle	rectum
41	chr7:69137800-69139000	Weak transcription	Placenta	Placenta
42	chr7:69137800-69140200	Enhancers	Adipose Nuclei	Adipose
43	chr7:69138000-69138400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr7:69138000-69138600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:69138000-69138600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:69138000-69138600	Enhancers	Brain Hippocampus Middle	brain
47	chr7:69138000-69139200	Weak transcription	Brain Cingulate Gyrus	brain
48	chr7:69138000-69140200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:69138000-69140200	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr7:69138000-69143200	Weak transcription	Left Ventricle	heart

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