Variant report

Variant	nsv437577
Chromosome Location	chr7:141081752-141096047
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:141082802..141085142-chr7:141086740..141088714,2	K562	blood:
2	chr7:141087677..141089408-chr7:141091994..141093848,2	K562	blood:
3	chr7:141079961..141081760-chr7:141089406..141092125,2	K562	blood:
4	chr7:141090003..141092037-chr7:141092400..141096560,4	K562	blood:
5	chr7:141092974..141095041-chr7:141096828..141098850,2	K562	blood:
6	chr7:141079961..141081760-chr7:141089399..141092125,3	K562	blood:
7	chr7:141090003..141092163-chr7:141093142..141096560,4	K562	blood:
8	chr7:141050550..141052321-chr7:141091904..141093431,2	MCF-7	breast:
9	chr7:141079961..141081760-chr7:141089399..141092125,3	K562	blood:
10	chr7:141087677..141089408-chr7:141091994..141093848,2	K562	blood:
11	chr7:141090003..141092163-chr7:141093142..141096560,4	K562	blood:
12	chr7:141082802..141085142-chr7:141086740..141088714,2	K562	blood:
13	chr7:141090003..141092037-chr7:141092400..141096560,4	K562	blood:
14	chr7:141079961..141081760-chr7:141089406..141092125,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIAA1147-6	chr7:141083652-141083836	refGeneNc_2015_NR_015392
2	lnc-KIAA1147-6	chr7:141084467-141084499	refGeneNc_2015_NR_015392

No data

Variant related genes	Relation type
ENSG00000261624	chromatin interactions

Extended variants
information (count: 535 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:535 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7811466	chr7:141081752-141081753	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs17162181	chr7:141081802-141081803	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs117632459	chr7:141081814-141081815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs55853654	chr7:141081828-141081829	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs73169543	chr7:141081856-141081857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559479711	chr7:141081875-141081876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150899145	chr7:141081892-141081893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181608939	chr7:141081914-141081915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76641717	chr7:141081926-141081927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530721495	chr7:141081944-141081945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557639405	chr7:141081963-141081964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548534016	chr7:141081973-141081974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186305030	chr7:141081979-141081980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143154939	chr7:141081987-141081988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528151947	chr7:141082013-141082014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191104609	chr7:141082024-141082025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566772015	chr7:141082039-141082040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533826413	chr7:141082042-141082043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114782825	chr7:141082093-141082094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569532461	chr7:141082107-141082108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555757632	chr7:141082122-141082123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536962866	chr7:141082243-141082244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146196755	chr7:141082283-141082284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369141516	chr7:141082342-141082343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369658580	chr7:141082353-141082354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573946454	chr7:141082456-141082457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573304354	chr7:141082463-141082464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540709400	chr7:141082533-141082534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs17162182	chr7:141082543-141082544	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs114077348	chr7:141082558-141082559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73739823	chr7:141082560-141082561	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs563156201	chr7:141082617-141082618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575165832	chr7:141082659-141082660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542540675	chr7:141082667-141082668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182729665	chr7:141082677-141082678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556699710	chr7:141082700-141082701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546671811	chr7:141082706-141082707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139100803	chr7:141082711-141082712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575328456	chr7:141082766-141082767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs551162526	chr7:141082802-141082803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569496270	chr7:141082828-141082829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536926089	chr7:141082833-141082834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs117686748	chr7:141082834-141082835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76099500	chr7:141082838-141082839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533892035	chr7:141082855-141082856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558917094	chr7:141082877-141082878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144021414	chr7:141082898-141082899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150605116	chr7:141082945-141082946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141404257	chr7:141082963-141082964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201966677	chr7:141082964-141082965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell acute lymphoblastic leukemia	16673021	CNVD
Cancer	21183584	CNVD
Intracranial ependymoma	16609018	CNVD
Non-small cell lung cancer	21829676	CNVD
Developmental delay	19490664	CNVD
Pancreatitis	20877625	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16968546	CNVD
Pilocytic astrocytoma	18408760	CNVD
Idiopathic chronic pancreatitis	19584086	CNVD
Low-grade astrocytoma	19016743	CNVD
Pediatric low-grade astrocytoma	19016743	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Gastric cancer	16891809	CNVD
Cancer	17440070	CNVD
Astrocytoma	18398503	CNVD
Melanoma	19671679	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
Glioblastoma multiforme	21525872	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian cancer	21781307	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:141062600-141081800	Weak transcription	Fetal Brain Female	brain
2	chr7:141072200-141087600	Weak transcription	Left Ventricle	heart
3	chr7:141080000-141082800	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr7:141081400-141082200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:141081400-141082400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:141081600-141082200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:141081600-141082200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr7:141081600-141082200	Enhancers	Brain Angular Gyrus	brain
9	chr7:141081600-141082200	Enhancers	Brain Germinal Matrix	brain
10	chr7:141081800-141082000	Enhancers	Fetal Brain Female	brain
11	chr7:141081800-141082200	Enhancers	Liver	Liver
12	chr7:141081800-141082200	Enhancers	Fetal Brain Male	brain
13	chr7:141082000-141082600	Weak transcription	Fetal Brain Female	brain
14	chr7:141082200-141087400	Weak transcription	Brain Germinal Matrix	brain
15	chr7:141082800-141084800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr7:141084800-141086000	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr7:141085800-141086400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr7:141086000-141088200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr7:141086400-141086600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:141086600-141097200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr7:141087400-141087800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:141087400-141087800	Enhancers	Esophagus	oesophagus
23	chr7:141087400-141088000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:141087400-141088000	Enhancers	Brain Anterior Caudate	brain
25	chr7:141087400-141090800	Enhancers	Brain Germinal Matrix	brain
26	chr7:141087600-141087800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:141087600-141087800	Enhancers	Left Ventricle	heart
28	chr7:141087600-141088000	Enhancers	Right Ventricle	heart
29	chr7:141087800-141095400	Weak transcription	Left Ventricle	heart
30	chr7:141088000-141089800	Weak transcription	Brain Anterior Caudate	brain
31	chr7:141088000-141090200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr7:141088200-141089400	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr7:141089000-141089400	Enhancers	Fetal Brain Male	brain
34	chr7:141089000-141089600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr7:141089000-141091000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:141089400-141090200	Enhancers	Fetal Brain Female	brain
37	chr7:141089400-141092000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr7:141089400-141105800	Weak transcription	Fetal Brain Male	brain
39	chr7:141089600-141090000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:141089800-141090400	Enhancers	Brain Anterior Caudate	brain
41	chr7:141090000-141090200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:141090200-141090400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr7:141090200-141092400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:141090800-141097800	Weak transcription	Brain Germinal Matrix	brain
45	chr7:141091000-141093400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:141092000-141092800	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr7:141092400-141093600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:141092800-141093600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr7:141092800-141113600	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr7:141093000-141093400	Enhancers	HUES64 Cell Line	embryonic stem cell

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