Variant report

Variant	nsv1033518
Chromosome Location	chr7:78013657-78038797
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:78019426..78023197-chr7:78030740..78033755,3	K562	blood:
2	chr7:78019426..78023197-chr7:78030740..78033755,3	K562	blood:
3	chr7:78028994..78032808-chr7:78037424..78041086,3	K562	blood:
4	chr7:78028994..78032808-chr7:78037424..78041086,3	K562	blood:
5	chr7:78031308..78033411-chr7:78037629..78039764,2	K562	blood:
6	chr7:78005645..78007529-chr7:78013628..78016118,2	MCF-7	breast:
7	chr7:78031308..78033411-chr7:78037629..78039764,2	K562	blood:

Extended variants
information (count: 1023 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1023 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536437088	chr7:78013663-78013664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2191326	chr7:78013732-78013733	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs7797465	chr7:78013768-78013769	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs376244330	chr7:78013809-78013810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs180737362	chr7:78013870-78013871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572455897	chr7:78013886-78013887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561470343	chr7:78013903-78013904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530117728	chr7:78013914-78013915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs17150624	chr7:78013932-78013933	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs17150625	chr7:78014031-78014032	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs34963661	chr7:78014039-78014040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs397889113	chr7:78014046-78014047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575073807	chr7:78014055-78014056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558335191	chr7:78014103-78014104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552909393	chr7:78014127-78014128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186170110	chr7:78014145-78014146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2012593	chr7:78014174-78014175	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs112236656	chr7:78014175-78014176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564664059	chr7:78014193-78014194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112854193	chr7:78014212-78014213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34290891	chr7:78014220-78014221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115667955	chr7:78014239-78014240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34805245	chr7:78014276-78014277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374524429	chr7:78014307-78014308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547029967	chr7:78014315-78014316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567262300	chr7:78014324-78014325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11982997	chr7:78014329-78014330	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs550070382	chr7:78014338-78014339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569717605	chr7:78014339-78014340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545687821	chr7:78014357-78014358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557331757	chr7:78014433-78014434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575449327	chr7:78014434-78014435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542784717	chr7:78014465-78014466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538871979	chr7:78014503-78014504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559073187	chr7:78014504-78014505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372363166	chr7:78014570-78014571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10953544	chr7:78014594-78014595	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs535010639	chr7:78014658-78014659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115038105	chr7:78014669-78014670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574781736	chr7:78014696-78014697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76697536	chr7:78014708-78014709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188364928	chr7:78014729-78014730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577341695	chr7:78014759-78014760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138063956	chr7:78014765-78014766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149542933	chr7:78014807-78014808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs527345275	chr7:78014808-78014809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574502165	chr7:78014815-78014816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143114826	chr7:78014837-78014838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs10231406	chr7:78014855-78014856	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs35747903	chr7:78014871-78014872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Cancer	20164919	CNVD

Chromatin state (count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78010000-78024600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:78012200-78018600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr7:78013000-78014200	Weak transcription	Brain Substantia Nigra	brain
4	chr7:78013200-78014000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:78014200-78014800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:78014200-78014800	Enhancers	Brain Hippocampus Middle	brain
7	chr7:78014200-78014800	Enhancers	Brain Substantia Nigra	brain
8	chr7:78014600-78014800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:78014800-78015800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:78014800-78015800	Weak transcription	Brain Substantia Nigra	brain
11	chr7:78014800-78016800	Enhancers	Fetal Heart	heart
12	chr7:78014800-78017800	Weak transcription	Brain Hippocampus Middle	brain
13	chr7:78014800-78018600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:78015600-78016200	Enhancers	Rectal Smooth Muscle	rectum
15	chr7:78015800-78016000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:78015800-78016200	Enhancers	Brain Substantia Nigra	brain
17	chr7:78015800-78016800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr7:78015800-78028600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:78016000-78016400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:78016200-78022600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr7:78016200-78022600	Weak transcription	Right Atrium	heart
22	chr7:78016200-78022800	Weak transcription	Brain Substantia Nigra	brain
23	chr7:78016400-78016600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr7:78016600-78018600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr7:78016800-78018600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr7:78017400-78017600	Weak transcription	Brain Anterior Caudate	brain
27	chr7:78017400-78029800	Weak transcription	Aorta	Aorta
28	chr7:78017600-78018800	Enhancers	Brain Anterior Caudate	brain
29	chr7:78017800-78018800	Enhancers	Brain Hippocampus Middle	brain
30	chr7:78018400-78018800	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr7:78018400-78019000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:78018400-78019000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:78018400-78019000	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr7:78018400-78019000	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr7:78018600-78019000	Enhancers	H1 Cell Line	embryonic stem cell
36	chr7:78018600-78019000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr7:78018600-78019000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr7:78018600-78019000	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr7:78018600-78019200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:78018800-78022800	Weak transcription	Brain Hippocampus Middle	brain
41	chr7:78018800-78023800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr7:78018800-78024400	Weak transcription	Brain Anterior Caudate	brain
43	chr7:78019000-78023600	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr7:78019000-78023800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr7:78019000-78023800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr7:78019000-78026600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr7:78019000-78026800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr7:78020800-78021200	Enhancers	Brain Cingulate Gyrus	brain
49	chr7:78021200-78022400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr7:78022400-78022800	Enhancers	Brain Cingulate Gyrus	brain

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