Variant report

Variant	nsv899961
Chromosome Location	chr13:30226924-30407273
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:72)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

No data

(count:72 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr13:30168183..30170103-chr13:30259878..30262393,2	MCF-7	breast:
2	chr13:30341320..30342948-chr13:30422925..30424718,2	MCF-7	breast:
3	chr13:30351544..30354473-chr13:30379048..30380772,2	MCF-7	breast:
4	chr13:30301513..30303197-chr13:30304731..30306276,2	K562	blood:
5	chr13:30046585..30047224-chr13:30287683..30288263,2	MCF-7	breast:
6	chr13:30290596..30292744-chr13:30306487..30308229,2	MCF-7	breast:
7	chr13:30300533..30302141-chr13:30302441..30304162,2	MCF-7	breast:
8	chr13:30355832..30358198-chr13:30363534..30365177,2	MCF-7	breast:
9	chr13:30407057..30408678-chr13:30687938..30689811,2	MCF-7	breast:
10	chr13:30344222..30347052-chr13:30686907..30688799,2	MCF-7	breast:
11	chr13:30168624..30171119-chr13:30283452..30285208,2	MCF-7	breast:
12	chr13:30343717..30345488-chr13:30365364..30367751,2	MCF-7	breast:
13	chr13:30167314..30169877-chr13:30230772..30232474,2	MCF-7	breast:
14	chr13:30046234..30047155-chr13:30281848..30282798,5	K562	blood:
15	chr13:30169428..30171220-chr13:30315636..30317422,2	MCF-7	breast:
16	chr13:30298337..30300563-chr13:30303490..30306040,2	K562	blood:
17	chr13:30076045..30078602-chr13:30271472..30273555,2	MCF-7	breast:
18	chr13:30276744..30278789-chr13:30280944..30283697,2	K562	blood:
19	chr13:30046058..30047280-chr13:30281639..30283052,17	MCF-7	breast:
20	chr13:30406067..30409440-chr13:30410135..30412697,3	K562	blood:
21	chr13:30251842..30253597-chr13:30255300..30256996,2	K562	blood:
22	chr13:30386203..30387833-chr13:30389830..30392025,3	MCF-7	breast:
23	chr13:30300533..30302141-chr13:30302441..30304162,2	MCF-7	breast:
24	chr13:30355832..30358198-chr13:30363534..30365177,2	MCF-7	breast:
25	chr13:30046073..30047178-chr13:30281732..30282586,7	MCF-7	breast:
26	chr13:30290596..30292744-chr13:30306487..30308229,2	MCF-7	breast:
27	chr13:30301513..30303197-chr13:30304731..30306276,2	K562	blood:
28	chr13:30054229..30054920-chr13:30281976..30282660,2	K562	blood:
29	chr13:30347146..30349526-chr13:30687739..30689607,2	MCF-7	breast:
30	chr13:30165310..30167432-chr13:30231633..30234187,2	K562	blood:
31	chr13:30166226..30170537-chr13:30267927..30269941,4	MCF-7	breast:
32	chr13:30404779..30406710-chr13:30410063..30412340,2	K562	blood:
33	chr13:30360873..30362399-chr13:30368412..30370237,2	MCF-7	breast:
34	chr13:30167902..30170613-chr13:30237071..30238783,2	MCF-7	breast:
35	chr13:30251842..30253597-chr13:30255300..30256996,2	K562	blood:
36	chr13:30337425..30339161-chr13:30421221..30423789,2	MCF-7	breast:
37	chr13:30339629..30341793-chr13:30342795..30344909,2	MCF-7	breast:
38	chr13:30081966..30082930-chr13:30281642..30282704,6	MCF-7	breast:
39	chr13:30351544..30354473-chr13:30379048..30380772,2	MCF-7	breast:
40	chr13:30386203..30387833-chr13:30389830..30392025,3	MCF-7	breast:
41	chr13:30378464..30380785-chr21:33103550..33105842,2	MCF-7	breast:
42	chr13:30403000..30404793-chr13:30686519..30690620,3	MCF-7	breast:
43	chr13:30391873..30393700-chr13:30497127..30499566,2	MCF-7	breast:
44	chr13:30249644..30251920-chr13:30269289..30271724,2	MCF-7	breast:
45	chr13:30163838..30166172-chr13:30279497..30282436,2	K562	blood:
46	chr13:30373480..30375303-chr13:30379875..30382396,3	MCF-7	breast:
47	chr13:30298337..30300563-chr13:30303490..30306040,2	K562	blood:
48	chr13:30164682..30166932-chr13:30278422..30280468,2	MCF-7	breast:
49	chr13:30082009..30082874-chr13:30281689..30282679,3	K562	blood:
50	chr13:30379270..30380129-chr2:232527414..232528389,2	MCF-7	breast:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC7A1-4	chr13:30229207-30229615	NONHSAT032748
2	lnc-MTUS2-3	chr13:30229207-30229578	NONHSAT032747
3	lnc-RP11-90M5.1.1-4	chr13:30353175-30353222	l_802_chr13:30353174-30355438_76bGuttman_hLF
4	lnc-RP11-90M5.1.1-4	chr13:30355231-30355532	NONHSAT032750
5	lnc-MTUS2-3	chr13:30229088-30229714	NONHSAT032746
6	lnc-RP11-90M5.1.1-4	chr13:30354688-30354796	NONHSAT032750
7	lnc-RP11-90M5.1.1-4	chr13:30355231-30355438	l_802_chr13:30353174-30355438_76bGuttman_hLF
8	lnc-MTUS2-4	chr13:30275343-30275729	NONHSAT032749
9	lnc-MTUS2-4	chr13:30282264-30282782	NONHSAT032749
10	lnc-RP11-90M5.1.1-4	chr13:30354697-30354796	l_802_chr13:30353174-30355438_76bGuttman_hLF

No data

(count:3 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	UBL3	hsa-miR-215-5p	chr13:30339712-30339731
2	UBL3	hsa-miR-186-5p	chr13:30340417-30340411
3	UBL3	hsa-miR-192-5p	chr13:30339712-30339731

Variant related genes	Relation type
ENSG00000189403	chromatin interactions
ENSG00000139514	chromatin interactions
ENSG00000156304	chromatin interactions
ENSG00000237879	chromatin interactions

Extended variants
information (count: 6518 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:6518 , 50 per page) page: 1 2 3 4 5 6 7 ... 131

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs489679	chr13:30226924-30226925	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs151001194	chr13:30226964-30226965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140895183	chr13:30226965-30226966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527622161	chr13:30226998-30226999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541205081	chr13:30227116-30227117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560954309	chr13:30227148-30227149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565279	chr13:30227177-30227178	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs547726329	chr13:30227238-30227239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549620602	chr13:30227255-30227256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374715328	chr13:30227256-30227257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs61947189	chr13:30227259-30227260	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs34459337	chr13:30227264-30227265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552240408	chr13:30227277-30227278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571953063	chr13:30227307-30227308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12873225	chr13:30227308-30227309	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs187051796	chr13:30227311-30227312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116785850	chr13:30227320-30227321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563630	chr13:30227358-30227359	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs556387093	chr13:30227359-30227360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576176609	chr13:30227362-30227363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538639831	chr13:30227386-30227387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558562867	chr13:30227392-30227393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530653091	chr13:30227397-30227398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs193106462	chr13:30227412-30227413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145571349	chr13:30227427-30227428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561097217	chr13:30227462-30227463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373161932	chr13:30227465-30227466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570154307	chr13:30227481-30227482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543648535	chr13:30227495-30227496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563360291	chr13:30227519-30227520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532277353	chr13:30227566-30227567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185364671	chr13:30227567-30227568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188977707	chr13:30227586-30227587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140364273	chr13:30227637-30227638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537790490	chr13:30227642-30227643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs193026826	chr13:30227649-30227650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184989083	chr13:30227662-30227663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536446669	chr13:30227666-30227667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550002587	chr13:30227674-30227675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569799671	chr13:30227718-30227719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs648326	chr13:30227763-30227764	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs375351736	chr13:30227783-30227784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558501599	chr13:30227798-30227799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572358075	chr13:30227807-30227808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534869837	chr13:30227830-30227831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370134722	chr13:30227843-30227844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528322575	chr13:30227870-30227871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373524874	chr13:30227942-30227943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543233542	chr13:30227974-30227975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188093044	chr13:30227980-30227981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Squamous cell cancer	20885788	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Malignant glioma	17146433	CNVD
Breast cancer	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Retinoblastoma	22278416	CNVD
Peters Plus syndrome	16909395	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Ovarian cancer	19047089	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:2168 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30222400-30229400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:30222800-30232800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr13:30222800-30232800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr13:30228000-30229200	Enhancers	NHDF-Ad	bronchial
5	chr13:30228000-30230000	Enhancers	NHLF	lung
6	chr13:30228000-30230000	Enhancers	Osteobl	bone
7	chr13:30228000-30230600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr13:30228200-30230000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr13:30228200-30230000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr13:30228400-30233800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr13:30229000-30229800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr13:30229200-30229600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr13:30229200-30229800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr13:30229200-30229800	Flanking Active TSS	NHDF-Ad	bronchial
15	chr13:30229200-30230000	Enhancers	HSMM	muscle
16	chr13:30229200-30230000	Enhancers	NH-A	brain
17	chr13:30229400-30230000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr13:30229800-30230800	Enhancers	NHDF-Ad	bronchial
19	chr13:30230000-30231000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr13:30231000-30232800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr13:30232800-30233600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr13:30232800-30233800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr13:30232800-30233800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr13:30233600-30238200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr13:30233800-30249800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr13:30235800-30236000	Bivalent Enhancer	Esophagus	oesophagus
27	chr13:30238800-30239400	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr13:30248200-30248400	Enhancers	Placenta Amnion	Placenta Amnion
29	chr13:30248200-30250200	Enhancers	Hela-S3	cervix
30	chr13:30248400-30248600	Enhancers	NHEK	skin
31	chr13:30248600-30248800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr13:30248600-30248800	Enhancers	NH-A	brain
33	chr13:30248600-30249600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr13:30248600-30252200	Enhancers	NHDF-Ad	bronchial
35	chr13:30248800-30249000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr13:30248800-30249000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr13:30248800-30249600	Weak transcription	NH-A	brain
38	chr13:30248800-30250600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr13:30249000-30249200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr13:30249000-30249800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr13:30249000-30251000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr13:30249200-30250600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr13:30249200-30250800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr13:30249600-30249800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr13:30249600-30249800	Enhancers	NH-A	brain
46	chr13:30249600-30250200	Enhancers	Placenta Amnion	Placenta Amnion
47	chr13:30249600-30250600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr13:30249600-30252000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr13:30249800-30250000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr13:30249800-30250200	Enhancers	Esophagus	oesophagus

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