Variant report

Variant	nsv818257
Chromosome Location	chr4:101085258-101100658
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:101084718..101086912-chr4:101087632..101089284,2	K562	blood:
2	chr4:101084718..101086912-chr4:101087632..101089284,2	K562	blood:
3	chr4:101072313..101075181-chr4:101094898..101096788,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DAPP1-4	chr4:101090659-101092643	l_2694_NR_002799

Extended variants
information (count: 620 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:620 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6854962	chr4:101085258-101085259	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs550727626	chr4:101085262-101085263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75642201	chr4:101085273-101085274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115769315	chr4:101085303-101085304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536477322	chr4:101085305-101085306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144048033	chr4:101085355-101085356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs17620609	chr4:101085366-101085367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78378919	chr4:101085382-101085383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552953566	chr4:101085459-101085460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189807945	chr4:101085511-101085512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545111985	chr4:101085526-101085527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575159207	chr4:101085561-101085562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs62307577	chr4:101085636-101085637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575727155	chr4:101085646-101085647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544894377	chr4:101085757-101085758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543237801	chr4:101085758-101085759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185092536	chr4:101085816-101085817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528826202	chr4:101085819-101085820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190451908	chr4:101085834-101085835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181834476	chr4:101085878-101085879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532219665	chr4:101085907-101085908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs75739829	chr4:101085921-101085922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550677052	chr4:101085922-101085923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186372902	chr4:101085935-101085936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370740318	chr4:101085964-101085965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564797853	chr4:101085974-101085975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188421432	chr4:101086017-101086018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs117215342	chr4:101086025-101086026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs17620626	chr4:101086037-101086038	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs180853362	chr4:101086103-101086104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534103939	chr4:101086160-101086161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552914567	chr4:101086161-101086162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs34714038	chr4:101086195-101086196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs72686282	chr4:101086247-101086248	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs78331493	chr4:101086339-101086340	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs557019511	chr4:101086346-101086347	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs575731791	chr4:101086384-101086385	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs2866190	chr4:101086420-101086421	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs561533622	chr4:101086460-101086461	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs573426582	chr4:101086496-101086497	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs2866191	chr4:101086545-101086546	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs565608135	chr4:101086597-101086598	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs532132639	chr4:101086600-101086601	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs550636376	chr4:101086628-101086629	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs111693487	chr4:101086704-101086705	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs562440732	chr4:101086712-101086713	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs565654495	chr4:101086747-101086748	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs548039462	chr4:101086799-101086800	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs566673814	chr4:101086870-101086871	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs527552862	chr4:101086882-101086883	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Acute myeloid leukemia	18000384	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:101083200-101087800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:101083400-101089600	Weak transcription	Ovary	ovary
3	chr4:101084200-101087000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr4:101084400-101086600	Weak transcription	Primary B cells from cord blood	blood
5	chr4:101084800-101085800	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr4:101085400-101085600	Enhancers	Psoas Muscle	Psoas
7	chr4:101085400-101085600	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr4:101085400-101085600	Enhancers	HSMMtube	muscle
9	chr4:101085400-101085600	Enhancers	NHLF	lung
10	chr4:101085400-101086600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:101085600-101086600	Weak transcription	Psoas Muscle	Psoas
12	chr4:101085600-101086600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr4:101085600-101086600	Weak transcription	HSMMtube	muscle
14	chr4:101085600-101088600	Weak transcription	NHLF	lung
15	chr4:101085800-101086200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr4:101086200-101086600	Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr4:101086200-101086800	Enhancers	Dnd41	blood
18	chr4:101086400-101087600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr4:101086600-101086800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr4:101086600-101087000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr4:101086600-101087000	Enhancers	HSMMtube	muscle
22	chr4:101086600-101087200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr4:101086600-101087200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr4:101086600-101087200	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr4:101086600-101087200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:101086600-101087200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr4:101086600-101087200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr4:101086600-101087400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr4:101086600-101087400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr4:101086600-101087400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr4:101086600-101087600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:101086600-101087600	Enhancers	Brain Germinal Matrix	brain
33	chr4:101086600-101087800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:101086600-101087800	Enhancers	Primary B cells from cord blood	blood
35	chr4:101086600-101087800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr4:101086600-101087800	Enhancers	Psoas Muscle	Psoas
37	chr4:101086600-101088000	Enhancers	Fetal Muscle Leg	muscle
38	chr4:101086600-101088000	Enhancers	Fetal Thymus	thymus
39	chr4:101086600-101089200	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr4:101086600-101089600	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr4:101086800-101087200	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr4:101086800-101087200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:101086800-101087200	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr4:101086800-101087200	Flanking Active TSS	Dnd41	blood
45	chr4:101086800-101087400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:101086800-101087400	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr4:101086800-101087600	Enhancers	Primary T cells from cord blood	blood
48	chr4:101086800-101087800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr4:101086800-101088000	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr4:101087000-101087200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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