Variant report

Variant	nsv591894
Chromosome Location	chr3:141570294-141572848
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:141571955..141574364-chr3:141594385..141596373,2	MCF-7	breast:
2	chr3:141567996..141570024-chr3:141570674..141572307,2	K562	blood:
3	chr3:141572535..141577020-chr3:141577520..141580283,4	K562	blood:
4	chr3:141564064..141566563-chr3:141571317..141573505,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP1B3-1	chr3:141570621-141570762	XLOC_002841

Variant related genes	Relation type
ENSG00000069849	chromatin interactions

Extended variants
information (count: 97 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11710724	chr3:141570294-141570295	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565290669	chr3:141570312-141570313	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs539465948	chr3:141570317-141570318	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs557559738	chr3:141570375-141570376	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs576123080	chr3:141570436-141570437	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs535909572	chr3:141570445-141570446	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs577005624	chr3:141570458-141570459	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs111781741	chr3:141570469-141570470	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs184326705	chr3:141570470-141570471	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs574299237	chr3:141570484-141570485	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs188731399	chr3:141570499-141570500	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs373869646	chr3:141570503-141570504	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs181380126	chr3:141570546-141570547	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs533169073	chr3:141570566-141570567	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs545423489	chr3:141570621-141570622	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
16	rs563611136	chr3:141570728-141570729	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
17	rs58906691	chr3:141570847-141570848	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs549085046	chr3:141570857-141570858	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs567876351	chr3:141570874-141570875	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs529058506	chr3:141570995-141570996	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs146546057	chr3:141571029-141571030	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs566007043	chr3:141571031-141571032	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs61497113	chr3:141571082-141571083	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs372562086	chr3:141571097-141571098	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs569570763	chr3:141571098-141571099	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs377028707	chr3:141571129-141571130	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs375770286	chr3:141571159-141571160	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs567567252	chr3:141571174-141571175	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs545989510	chr3:141571180-141571181	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs113136863	chr3:141571205-141571206	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs574236128	chr3:141571206-141571207	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs541688799	chr3:141571208-141571209	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs73872375	chr3:141571252-141571253	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs578221096	chr3:141571281-141571282	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs559543860	chr3:141571288-141571289	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs574474327	chr3:141571300-141571301	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs59270114	chr3:141571317-141571318	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs73228303	chr3:141571337-141571338	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs548274556	chr3:141571347-141571348	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs575561776	chr3:141571349-141571350	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs374749096	chr3:141571416-141571417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369073849	chr3:141571426-141571427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11719756	chr3:141571456-141571457	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs529044566	chr3:141571467-141571468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566509670	chr3:141571478-141571479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372106404	chr3:141571480-141571481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547224864	chr3:141571582-141571583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559364817	chr3:141571631-141571632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573594089	chr3:141571668-141571669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181819214	chr3:141571687-141571688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
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
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141550800-141571800	Weak transcription	Esophagus	oesophagus
2	chr3:141560600-141572600	Weak transcription	Spleen	Spleen
3	chr3:141565000-141572000	Weak transcription	Adipose Nuclei	Adipose
4	chr3:141565000-141578000	Weak transcription	Fetal Intestine Small	intestine
5	chr3:141567600-141574600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr3:141568600-141572400	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr3:141568600-141572400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr3:141568600-141579600	Weak transcription	Fetal Thymus	thymus
9	chr3:141569000-141570400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr3:141569000-141572000	Weak transcription	K562	blood
11	chr3:141569600-141571400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr3:141569800-141572600	Enhancers	HUVEC	blood vessel
13	chr3:141570000-141571000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr3:141570200-141570600	Enhancers	Lung	lung
15	chr3:141570200-141570800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr3:141570200-141570800	Enhancers	Placenta	Placenta
17	chr3:141570200-141571400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr3:141570400-141570800	Enhancers	Primary hematopoietic stem cells	blood
19	chr3:141570600-141570800	Enhancers	Left Ventricle	heart
20	chr3:141570600-141571800	Weak transcription	Lung	lung
21	chr3:141570800-141571800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr3:141570800-141572400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr3:141570800-141578600	Weak transcription	Left Ventricle	heart
24	chr3:141571000-141572000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr3:141571400-141571800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr3:141571400-141571800	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr3:141571800-141572000	Enhancers	Lung	lung
28	chr3:141571800-141572800	Enhancers	Esophagus	oesophagus
29	chr3:141571800-141573000	Enhancers	Primary hematopoietic stem cells	blood
30	chr3:141571800-141573000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr3:141571800-141573600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr3:141572000-141572400	Weak transcription	Lung	lung
33	chr3:141572000-141572600	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr3:141572000-141572600	Enhancers	K562	blood
35	chr3:141572000-141572800	Enhancers	Colon Smooth Muscle	Colon
36	chr3:141572000-141572800	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr3:141572000-141572800	Enhancers	Hela-S3	cervix
38	chr3:141572000-141573000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr3:141572000-141573000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr3:141572000-141573000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr3:141572000-141573000	Enhancers	Adipose Nuclei	Adipose
42	chr3:141572000-141573000	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr3:141572200-141572600	Bivalent Enhancer	Stomach Mucosa	stomach
44	chr3:141572200-141572800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr3:141572200-141572800	Enhancers	Duodenum Mucosa	Duodenum
46	chr3:141572400-141572600	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr3:141572400-141572800	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr3:141572400-141573000	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr3:141572400-141573000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr3:141572400-141573000	Enhancers	Lung	lung

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