Variant report

Variant	nsv1019355
Chromosome Location	chr7:78319575-78399845
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:78354533..78356785-chr7:78357118..78359771,2	K562	blood:
2	chr2:57140755..57141275-chr7:78397919..78398439,2	MCF-7	breast:
3	chr7:78291912..78294336-chr7:78364604..78366410,2	K562	blood:
4	chr7:78354533..78356785-chr7:78357118..78359771,2	K562	blood:
5	chr7:78312785..78313370-chr7:78321992..78322721,2	MCF-7	breast:

Extended variants
information (count: 3399 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:3399 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528110588	chr7:78319596-78319597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535831047	chr7:78319603-78319604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144620525	chr7:78319604-78319605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191015319	chr7:78319614-78319615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138751893	chr7:78319615-78319616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182532631	chr7:78319623-78319624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572260098	chr7:78319717-78319718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7791589	chr7:78319728-78319729	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs321995	chr7:78319731-78319732	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs533682982	chr7:78319741-78319742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375975451	chr7:78319777-78319778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530151073	chr7:78319798-78319799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377589592	chr7:78319803-78319804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563655353	chr7:78319808-78319809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7796399	chr7:78319894-78319895	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs552826819	chr7:78319916-78319917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs321996	chr7:78319926-78319927	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs187275530	chr7:78319938-78319939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141896726	chr7:78319945-78319946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs78571197	chr7:78320002-78320003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549364255	chr7:78320014-78320015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113706324	chr7:78320107-78320108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192155163	chr7:78320114-78320115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184460798	chr7:78320127-78320128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373548214	chr7:78320176-78320177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555888190	chr7:78320242-78320243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569590745	chr7:78320263-78320264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73145196	chr7:78320280-78320281	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs558811511	chr7:78320283-78320284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537641318	chr7:78320302-78320303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34677138	chr7:78320314-78320315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558015379	chr7:78320322-78320323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572296958	chr7:78320336-78320337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541210795	chr7:78320401-78320402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577844615	chr7:78320443-78320444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs143549483	chr7:78320450-78320451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188689426	chr7:78320509-78320510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs11971579	chr7:78320538-78320539	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs193301220	chr7:78320550-78320551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529012432	chr7:78320557-78320558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs111388809	chr7:78320558-78320559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546210106	chr7:78320568-78320569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559604782	chr7:78320631-78320632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184316535	chr7:78320660-78320661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189503349	chr7:78320795-78320796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs34679051	chr7:78320816-78320817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568266214	chr7:78320820-78320821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529760555	chr7:78320821-78320822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs9640732	chr7:78320848-78320849	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs181112830	chr7:78320864-78320865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
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
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	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
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
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Neurodevelopmental disorder	22521361	CNVD
Williams Syndrome	20824207	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	17952125	CNVD
Williams-beuren syndrome	16826523	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Cancer	20164919	CNVD

Chromatin state (count:684 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78301800-78321600	Weak transcription	Fetal Brain Female	brain
2	chr7:78313200-78319600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:78313800-78321600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr7:78313800-78334200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:78318000-78320200	Weak transcription	Fetal Heart	heart
6	chr7:78318000-78326800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:78318400-78327400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:78319000-78319600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:78319200-78320000	Enhancers	Osteobl	bone
10	chr7:78319600-78319800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:78320200-78321000	Enhancers	Fetal Heart	heart
12	chr7:78320200-78323200	Enhancers	Brain Germinal Matrix	brain
13	chr7:78320600-78320800	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr7:78320800-78321000	Enhancers	Brain Angular Gyrus	brain
15	chr7:78320800-78321400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr7:78321000-78321600	Weak transcription	Brain Angular Gyrus	brain
17	chr7:78321400-78322200	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr7:78321600-78321800	Enhancers	Brain Angular Gyrus	brain
19	chr7:78321600-78322000	Enhancers	Brain Substantia Nigra	brain
20	chr7:78321600-78322200	Enhancers	Fetal Brain Female	brain
21	chr7:78321600-78322600	Enhancers	Brain Anterior Caudate	brain
22	chr7:78321600-78323600	Enhancers	Brain Cingulate Gyrus	brain
23	chr7:78321800-78322200	Weak transcription	Brain Angular Gyrus	brain
24	chr7:78321800-78322200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr7:78322000-78323000	Weak transcription	Brain Substantia Nigra	brain
26	chr7:78322200-78322600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr7:78322200-78323200	Enhancers	Brain Angular Gyrus	brain
28	chr7:78322200-78328800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr7:78323000-78323200	Enhancers	Brain Substantia Nigra	brain
30	chr7:78323200-78324800	Weak transcription	Brain Angular Gyrus	brain
31	chr7:78323600-78325400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr7:78324600-78324800	Enhancers	Brain Anterior Caudate	brain
33	chr7:78324800-78325000	Enhancers	Brain Angular Gyrus	brain
34	chr7:78325400-78325600	Enhancers	Brain Cingulate Gyrus	brain
35	chr7:78326000-78326200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr7:78326200-78327600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr7:78326800-78328000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr7:78327400-78328000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:78327400-78328400	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr7:78327600-78327800	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr7:78327600-78328200	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr7:78327600-78328200	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr7:78327600-78328800	Enhancers	H1 Cell Line	embryonic stem cell
44	chr7:78327800-78341200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr7:78328200-78336600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr7:78328800-78329800	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr7:78329200-78329600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:78329600-78331000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr7:78330800-78331000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr7:78330800-78333200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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