Variant report

Variant	nsv1027622
Chromosome Location	chr4:175680329-175716070
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:15)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:175679569..175681556-chr4:175684065..175686816,2	K562	blood:
2	chr4:175679569..175682349-chr4:175685316..175687885,2	K562	blood:
3	chr4:175576966..175578861-chr4:175696475..175698888,2	K562	blood:
4	chr4:175285862..175286838-chr4:175684965..175685904,3	K562	blood:
5	chr4:175679569..175681556-chr4:175684065..175686816,2	K562	blood:
6	chr4:175687431..175690147-chr4:176049517..176052415,2	MCF-7	breast:
7	chr4:175684622..175686484-chr4:176046452..176048975,2	MCF-7	breast:
8	chr4:175696425..175698669-chr4:177241063..177242670,2	K562	blood:
9	chr4:175270741..175272762-chr4:175708411..175710972,2	K562	blood:
10	chr4:175684995..175685845-chr4:176457861..176458680,2	MCF-7	breast:
11	chr4:175704753..175706331-chr4:176045956..176047741,2	MCF-7	breast:
12	chr4:175683417..175685346-chr4:175685840..175688189,2	K562	blood:
13	chr4:175715901..175718406-chr4:175720738..175723252,2	K562	blood:
14	chr4:175679569..175682349-chr4:175685316..175687885,2	K562	blood:
15	chr4:175683417..175685346-chr4:175685840..175688189,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAM29-3	chr4:175681175-175682289	l_2788_chr4:175681174-175687959_placenta
2	lnc-ADAM29-3	chr4:175687820-175687959	l_2788_chr4:175681174-175687959_placenta
3	lnc-ADAM29-3	chr4:175684545-175684634	l_2788_chr4:175681174-175687959_placenta

No data

Variant related genes	Relation type
ENSG00000129128	chromatin interactions
ENSG00000248980	chromatin interactions

Extended variants
information (count: 412 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:412 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368105266	chr4:175680362-175680363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs35536851	chr4:175680410-175680411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11358316	chr4:175680472-175680473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs398083781	chr4:175680476-175680477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200352180	chr4:175680478-175680479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs193159784	chr4:175680514-175680515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs13130820	chr4:175680587-175680588	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs570002300	chr4:175680610-175680611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538632116	chr4:175680611-175680612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559043643	chr4:175680655-175680656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73006417	chr4:175680689-175680690	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs377063607	chr4:175680742-175680743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534933425	chr4:175680776-175680777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554695045	chr4:175680805-175680806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574803258	chr4:175680806-175680807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183324074	chr4:175680834-175680835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374907253	chr4:175680840-175680841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78506474	chr4:175680850-175680851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576801205	chr4:175680902-175680903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138717858	chr4:175680923-175680924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559442658	chr4:175680941-175680942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369646216	chr4:175680943-175680944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529609185	chr4:175680945-175680946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115345857	chr4:175680990-175680991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548409749	chr4:175680991-175680992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561829225	chr4:175681041-175681042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530846655	chr4:175681117-175681118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143399021	chr4:175681174-175681175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550877007	chr4:175681176-175681177	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs17060859	chr4:175681194-175681195	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs539063126	chr4:175681272-175681273	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs187238013	chr4:175681296-175681297	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs566166511	chr4:175681327-175681328	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs35050801	chr4:175681374-175681375	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs1012342	chr4:175681427-175681428	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs554758547	chr4:175681491-175681492	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs568288473	chr4:175681526-175681527	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs375873403	chr4:175681539-175681540	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs537226368	chr4:175681540-175681541	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs191730168	chr4:175681566-175681567	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs151179455	chr4:175681589-175681590	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs377674838	chr4:175681591-175681592	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs74321092	chr4:175681616-175681617	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs545832910	chr4:175681635-175681636	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs200500720	chr4:175681677-175681678	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs548139369	chr4:175681678-175681679	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs183895809	chr4:175681735-175681736	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs2014095	chr4:175681745-175681746	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs186785911	chr4:175681757-175681758	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs139210013	chr4:175681758-175681759	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD
Cancer	20164919	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175675400-175682600	Weak transcription	Fetal Brain Male	brain
2	chr4:175679400-175681200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr4:175682600-175683600	Enhancers	Fetal Brain Male	brain
4	chr4:175683000-175684800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr4:175684800-175685400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr4:175685200-175685400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr4:175688800-175689400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr4:175696400-175697800	Enhancers	K562	blood
9	chr4:175697800-175698600	Weak transcription	K562	blood
10	chr4:175698600-175698800	Enhancers	K562	blood
11	chr4:175698800-175699200	Weak transcription	K562	blood
12	chr4:175699200-175700000	Active TSS	K562	blood
13	chr4:175699200-175700600	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr4:175699400-175699600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr4:175699400-175699600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr4:175699400-175700000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr4:175699400-175700600	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr4:175699600-175700000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr4:175699600-175700000	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr4:175699600-175700200	Active TSS	H9 Cell Line	embryonic stem cell
21	chr4:175699600-175700200	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr4:175715400-175715800	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr4:175715400-175715800	Enhancers	A549	lung
24	chr4:175715400-175715800	Enhancers	Hela-S3	cervix

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