Variant report

Variant	nsv877360
Chromosome Location	chr3:115916171-116023990
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:8)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:115949809..115952723-chr3:115952914..115954692,2	MCF-7	breast:
2	chr2:49425509..49426338-chr3:115937869..115938784,2	MCF-7	breast:
3	chr3:116003235..116005177-chr3:116007654..116010438,2	K562	blood:
4	chr3:116001314..116005313-chr3:116007754..116010441,4	K562	blood:
5	chr3:116023706..116025318-chr3:116027363..116029556,2	MCF-7	breast:
6	chr3:115949809..115952723-chr3:115952914..115954692,2	MCF-7	breast:
7	chr3:116003235..116005177-chr3:116007654..116010438,2	K562	blood:
8	chr3:116001314..116005313-chr3:116007754..116010441,4	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GAP43-12	chr3:115917729-115917998	uc_120_+
2	lnc-GAP43-11	chr3:115916157-115916457	uc_119_+
3	lnc-GAP43-13	chr3:116018476-116019815	NONHSAT091309
4	lnc-ZBTB20-4	chr3:115917729-115917998	uc_120_-
5	lnc-ZBTB20-3	chr3:115916157-115916457	uc_119_-

No data

Extended variants
information (count: 3411 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:3411 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6779886	chr3:115916171-115916172	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs1468001	chr3:115916180-115916181	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs188005233	chr3:115916207-115916208	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs569963914	chr3:115916230-115916231	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs568375635	chr3:115916286-115916287	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs529066448	chr3:115916382-115916383	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs12631840	chr3:115916431-115916432	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs565617933	chr3:115916434-115916435	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs539554180	chr3:115916464-115916465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557459935	chr3:115916483-115916484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12631903	chr3:115916547-115916548	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs115726668	chr3:115916580-115916581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs180864857	chr3:115916600-115916601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78355977	chr3:115916608-115916609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541203427	chr3:115916657-115916658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs117767819	chr3:115916685-115916686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112824553	chr3:115916694-115916695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186301539	chr3:115916717-115916718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144379602	chr3:115916748-115916749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs79434787	chr3:115916810-115916811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76754079	chr3:115916830-115916831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574253016	chr3:115916840-115916841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140751283	chr3:115916846-115916847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561938419	chr3:115916861-115916862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111599949	chr3:115916871-115916872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372475495	chr3:115916916-115916917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375414979	chr3:115916925-115916926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369285249	chr3:115916935-115916936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9834017	chr3:115916953-115916954	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs565908134	chr3:115916960-115916961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147496243	chr3:115916984-115916985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551415294	chr3:115917036-115917037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs72945931	chr3:115917049-115917050	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs113504253	chr3:115917090-115917091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9834315	chr3:115917100-115917101	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs567600938	chr3:115917108-115917109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9834589	chr3:115917134-115917135	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs186682843	chr3:115917158-115917159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs578087129	chr3:115917180-115917181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545771282	chr3:115917260-115917261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9834897	chr3:115917281-115917282	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs139981675	chr3:115917382-115917383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9854764	chr3:115917388-115917389	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs190748139	chr3:115917405-115917406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9835051	chr3:115917409-115917410	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs573975117	chr3:115917412-115917413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111883470	chr3:115917418-115917419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552309693	chr3:115917429-115917430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559396656	chr3:115917440-115917441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113357974	chr3:115917462-115917463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:778 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:115907400-115916400	Weak transcription	Colon Smooth Muscle	Colon
2	chr3:115907800-115919800	Weak transcription	Brain Angular Gyrus	brain
3	chr3:115911400-115916800	Weak transcription	Brain Anterior Caudate	brain
4	chr3:115911400-115919400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr3:115911400-115919400	Weak transcription	Brain Substantia Nigra	brain
6	chr3:115912800-115919600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr3:115915600-115916200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr3:115916400-115917200	Enhancers	Colon Smooth Muscle	Colon
9	chr3:115916800-115917200	Enhancers	Brain Anterior Caudate	brain
10	chr3:115916800-115917400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:115917200-115919600	Weak transcription	Brain Anterior Caudate	brain
12	chr3:115917400-115918000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr3:115918000-115919800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr3:115919000-115920200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr3:115919200-115919400	Enhancers	Brain Hippocampus Middle	brain
16	chr3:115919200-115920200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr3:115919400-115919800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr3:115919400-115920200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:115919400-115920200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr3:115919400-115920200	Weak transcription	Brain Hippocampus Middle	brain
21	chr3:115919400-115921000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr3:115919400-115921000	Enhancers	Brain Substantia Nigra	brain
23	chr3:115919400-115921400	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr3:115919600-115920000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr3:115919600-115920000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr3:115919600-115920200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr3:115919600-115920200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr3:115919600-115920400	Enhancers	Brain Germinal Matrix	brain
29	chr3:115919600-115920800	Enhancers	Brain Anterior Caudate	brain
30	chr3:115919600-115920800	Enhancers	Fetal Brain Female	brain
31	chr3:115919600-115921000	Enhancers	Brain Cingulate Gyrus	brain
32	chr3:115919800-115920400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr3:115919800-115920400	Enhancers	Fetal Brain Male	brain
34	chr3:115919800-115921600	Enhancers	Brain Angular Gyrus	brain
35	chr3:115920000-115920200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr3:115920200-115920600	Enhancers	Brain Hippocampus Middle	brain
37	chr3:115920200-115921400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr3:115920400-115920600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr3:115921000-115921400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr3:115921400-115921600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr3:115921400-115921800	Enhancers	Brain Cingulate Gyrus	brain
42	chr3:115930600-115931200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr3:115930800-115931000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr3:115930800-115931200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr3:115931600-115931800	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr3:115933000-115935600	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr3:115934400-115934600	Enhancers	Brain Hippocampus Middle	brain
48	chr3:115934400-115934800	Enhancers	Brain Anterior Caudate	brain
49	chr3:115934600-115935600	Weak transcription	Brain Hippocampus Middle	brain
50	chr3:115934800-115935800	Weak transcription	Brain Anterior Caudate	brain

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