Variant report

Variant	nsv965166
Chromosome Location	chr3:51409145-51409645
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:0)
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	chr3:51137392..51138131-chr3:51409021..51409632,2	K562	blood:
2	chr3:51306865..51307450-chr3:51409155..51410064,2	MCF-7	breast:
3	chr3:51137383..51138350-chr3:51409536..51410333,3	MCF-7	breast:
4	chr3:50899718..50900413-chr3:51408583..51409247,2	K562	blood:
5	chr3:51008103..51009082-chr3:51409134..51409784,2	K562	blood:
6	chr3:50653038..50654032-chr3:51409127..51409867,2	K562	blood:
7	chr3:51008779..51009534-chr3:51409019..51409634,2	MCF-7	breast:
8	chr3:51406871..51409726-chr3:51410883..51412893,2	K562	blood:

No data

Extended variants
information (count: 21 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572248972	chr3:51409165-51409166	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188660427	chr3:51409169-51409170	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554711047	chr3:51409224-51409225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192990956	chr3:51409295-51409296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139096555	chr3:51409296-51409297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551257982	chr3:51409301-51409302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563161346	chr3:51409334-51409335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372386009	chr3:51409342-51409343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545732432	chr3:51409370-51409371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560512741	chr3:51409376-51409377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574621599	chr3:51409402-51409403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375340432	chr3:51409405-51409406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567445575	chr3:51409428-51409429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371365727	chr3:51409528-51409529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531566403	chr3:51409562-51409563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs144797710	chr3:51409563-51409564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540218809	chr3:51409568-51409569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571646216	chr3:51409578-51409579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11715034	chr3:51409600-51409601	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs35468728	chr3:51409615-51409616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs58807639	chr3:51409644-51409645	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Bladder cancer	21909424	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Septo-optic dysplasia	21572526	CNVD
Biliary cancer	19435499	CNVD
Squamous cell cancer	20885788	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51378600-51421000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr3:51378800-51421400	Weak transcription	Right Ventricle	heart
3	chr3:51379000-51414600	Weak transcription	Left Ventricle	heart
4	chr3:51384200-51420600	Weak transcription	Fetal Brain Male	brain
5	chr3:51392800-51418600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:51400600-51411400	Weak transcription	Brain Anterior Caudate	brain
7	chr3:51400800-51410800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:51400800-51411000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr3:51400800-51411400	Weak transcription	Brain Substantia Nigra	brain
10	chr3:51400800-51411400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr3:51400800-51412200	Weak transcription	HSMMtube	muscle
12	chr3:51401000-51411800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr3:51405800-51410400	Weak transcription	Brain Germinal Matrix	brain
14	chr3:51406000-51411200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:51406000-51411600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:51406000-51417000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:51406000-51420200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr3:51406000-51420400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr3:51406000-51420400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr3:51406000-51420600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr3:51406000-51420800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr3:51406000-51420800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr3:51406000-51421400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr3:51406200-51409800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:51406400-51411800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr3:51406400-51420600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr3:51406400-51421600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:51408200-51411200	Weak transcription	Fetal Brain Female	brain
29	chr3:51408600-51410000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr3:51408800-51411000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr3:51409000-51409200	Genic enhancers	Brain Angular Gyrus	brain
32	chr3:51409000-51410800	Weak transcription	Brain Hippocampus Middle	brain
33	chr3:51409200-51410800	Weak transcription	Brain Angular Gyrus	brain
34	chr3:51409600-51409800	Enhancers	Adipose Nuclei	Adipose

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