Variant report

Variant	nsv3957
Chromosome Location	chr3:115986950-116032625
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:116001314..116005313-chr3:116007754..116010441,4	K562	blood:
2	chr3:116003235..116005177-chr3:116007654..116010438,2	K562	blood:
3	chr3:116003235..116005177-chr3:116007654..116010438,2	K562	blood:
4	chr3:116023706..116025318-chr3:116027363..116029556,2	MCF-7	breast:
5	chr3:116001314..116005313-chr3:116007754..116010441,4	K562	blood:
6	chr3:116023706..116025318-chr3:116027363..116029556,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GAP43-13	chr3:116018476-116019815	NONHSAT091309

No data

Extended variants
information (count: 1766 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1766 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550679479	chr3:115986984-115986985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372677100	chr3:115987010-115987011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs377086309	chr3:115987032-115987033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536705385	chr3:115987052-115987053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542148158	chr3:115987053-115987054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563610150	chr3:115987068-115987069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530791900	chr3:115987070-115987071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76766377	chr3:115987146-115987147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567422324	chr3:115987161-115987162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139681652	chr3:115987214-115987215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182290324	chr3:115987228-115987229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528763613	chr3:115987250-115987251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144856453	chr3:115987251-115987252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149808362	chr3:115987274-115987275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186912247	chr3:115987358-115987359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1461122	chr3:115987361-115987362	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs536516883	chr3:115987367-115987368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554754343	chr3:115987474-115987475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573145485	chr3:115987513-115987514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558540777	chr3:115987521-115987522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376075513	chr3:115987542-115987543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs139864040	chr3:115987543-115987544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs202055589	chr3:115987544-115987545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535365440	chr3:115987546-115987547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs386397692	chr3:115987550-115987551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs398062714	chr3:115987554-115987555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10681419	chr3:115987557-115987558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565409016	chr3:115987588-115987589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577251719	chr3:115987630-115987631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191733577	chr3:115987635-115987636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114348048	chr3:115987636-115987637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147901536	chr3:115987640-115987641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142213844	chr3:115987648-115987649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs117604263	chr3:115987701-115987702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576736985	chr3:115987709-115987710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183333680	chr3:115987729-115987730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188265729	chr3:115987792-115987793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs193159134	chr3:115987795-115987796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546454789	chr3:115987919-115987920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571351256	chr3:115987941-115987942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538319102	chr3:115987964-115987965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550180456	chr3:115987987-115987988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545712312	chr3:115987995-115987996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115540274	chr3:115988078-115988079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535839011	chr3:115988086-115988087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185405866	chr3:115988156-115988157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142271939	chr3:115988190-115988191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189283452	chr3:115988196-115988197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144410481	chr3:115988205-115988206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550942403	chr3:115988214-115988215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Attention deficit hyperactivity disorder	22180640	CNVD
Ovarian cancer	22174824	CNVD
Myelofibrosis	22110671	CNVD
Characteristic facial feature	22180640	CNVD
hypoplastic male genitals	22180640	CNVD
postnatal overgrowth	22180640	CNVD
Schizophrenia	23813976	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:408 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:115976000-115987000	Weak transcription	Brain Anterior Caudate	brain
2	chr3:115976200-115987000	Weak transcription	Brain Angular Gyrus	brain
3	chr3:115982000-115987200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:115984600-115987200	Weak transcription	Brain Hippocampus Middle	brain
5	chr3:115984600-115989800	Weak transcription	Brain Substantia Nigra	brain
6	chr3:115985200-115994600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr3:115985400-115987200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:115985400-115987800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr3:115985400-115989200	Weak transcription	Fetal Lung	lung
10	chr3:115985400-115989400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr3:115985400-115992200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:115985400-115999600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr3:115985800-115987600	Enhancers	Colon Smooth Muscle	Colon
14	chr3:115986200-115987000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr3:115986800-115987200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr3:115987000-115987400	Enhancers	Brain Angular Gyrus	brain
17	chr3:115987000-115989400	Enhancers	Brain Anterior Caudate	brain
18	chr3:115987200-115987400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:115987200-115987400	Enhancers	Brain Hippocampus Middle	brain
20	chr3:115987200-115987400	Enhancers	Fetal Stomach	stomach
21	chr3:115987200-115988000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:115987200-115995400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr3:115987400-115987800	Weak transcription	Brain Hippocampus Middle	brain
24	chr3:115987400-115990200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr3:115987400-116006200	Weak transcription	Brain Angular Gyrus	brain
26	chr3:115987600-115988000	Weak transcription	Colon Smooth Muscle	Colon
27	chr3:115987800-115988000	Enhancers	Brain Hippocampus Middle	brain
28	chr3:115987800-115988400	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr3:115988000-115988200	Enhancers	Colon Smooth Muscle	Colon
30	chr3:115988000-115988600	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr3:115988000-115995600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:115988000-115998200	Weak transcription	Brain Hippocampus Middle	brain
33	chr3:115988200-115996600	Weak transcription	Colon Smooth Muscle	Colon
34	chr3:115988400-115989000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr3:115988600-115991400	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr3:115988800-115989600	Enhancers	HUVEC	blood vessel
37	chr3:115989000-115989200	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr3:115989000-115989400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr3:115989000-115990000	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr3:115989200-115989800	Enhancers	Fetal Lung	lung
41	chr3:115989200-115999000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr3:115989400-115997000	Weak transcription	Brain Anterior Caudate	brain
43	chr3:115989800-115990600	Enhancers	Brain Substantia Nigra	brain
44	chr3:115989800-115991800	Weak transcription	Fetal Lung	lung
45	chr3:115990000-115996800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr3:115990600-115998200	Weak transcription	Brain Substantia Nigra	brain
47	chr3:115991200-115992200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr3:115991400-115992200	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr3:115991800-115992200	Enhancers	Fetal Lung	lung
50	chr3:115992200-115993000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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