Variant report

Variant	nsv593780
Chromosome Location	chr4:16519719-16557143
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:9)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:16530579..16533568-chr4:16546056..16548271,2	K562	blood:
2	chr20:11213940..11214546-chr4:16552592..16553227,2	MCF-7	breast:
3	chr4:16530273..16533933-chr4:16538992..16541453,3	K562	blood:
4	chr4:16528995..16531404-chr4:16534036..16535687,2	K562	blood:
5	chr4:16528995..16531404-chr4:16534036..16535687,2	K562	blood:
6	chr4:16530273..16533933-chr4:16538992..16541453,3	K562	blood:
7	chr4:16546369..16548367-chr4:16549828..16551938,2	MCF-7	breast:
8	chr4:16530579..16533568-chr4:16546056..16548271,2	K562	blood:
9	chr4:16546369..16548367-chr4:16549828..16551938,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CD38-8	chr4:16543609-16544335	NONHSAT095691
2	lnc-CD38-8	chr4:16542854-16543121	NONHSAT095691

No data

Extended variants
information (count: 1382 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:1382 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7690190	chr4:16519719-16519720	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs28592696	chr4:16519748-16519749	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs141791575	chr4:16519784-16519785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539474556	chr4:16519796-16519797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs367577195	chr4:16519805-16519806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568669797	chr4:16519873-16519874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531111844	chr4:16519898-16519899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76345771	chr4:16519962-16519963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570811382	chr4:16519986-16519987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79807233	chr4:16520010-16520011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140223222	chr4:16520045-16520046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs78953057	chr4:16520051-16520052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564769857	chr4:16520080-16520081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535971756	chr4:16520082-16520083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs28455181	chr4:16520106-16520107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs28514551	chr4:16520107-16520108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35227266	chr4:16520108-16520109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201411453	chr4:16520109-16520110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201149292	chr4:16520110-16520111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373422790	chr4:16520117-16520118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6848917	chr4:16520118-16520119	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs537652821	chr4:16520119-16520120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558037722	chr4:16520158-16520159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs578016597	chr4:16520324-16520325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150553019	chr4:16520326-16520327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549725832	chr4:16520370-16520371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560226034	chr4:16520392-16520393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573635003	chr4:16520395-16520396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542756449	chr4:16520397-16520398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562134896	chr4:16520400-16520401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76326348	chr4:16520492-16520493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149686320	chr4:16520530-16520531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564402374	chr4:16520536-16520537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533477655	chr4:16520564-16520565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546566308	chr4:16520589-16520590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563822898	chr4:16520606-16520607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147806440	chr4:16520651-16520652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139441708	chr4:16520712-16520713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145073720	chr4:16520727-16520728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569256910	chr4:16520761-16520762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538017701	chr4:16520790-16520791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547394920	chr4:16520793-16520794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376632001	chr4:16520812-16520813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558000048	chr4:16520879-16520880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147563757	chr4:16520881-16520882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182159961	chr4:16520888-16520889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368959735	chr4:16520933-16520934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544041220	chr4:16520996-16520997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62296891	chr4:16521003-16521004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184752297	chr4:16521016-16521017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	22183965	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:320 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16505400-16522200	Weak transcription	Lung	lung
2	chr4:16511800-16522200	Weak transcription	Left Ventricle	heart
3	chr4:16511800-16522400	Weak transcription	Placenta	Placenta
4	chr4:16511800-16526600	Weak transcription	Fetal Stomach	stomach
5	chr4:16512200-16522200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr4:16513400-16526600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:16513800-16525800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr4:16513800-16530400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:16516200-16523400	Weak transcription	HUVEC	blood vessel
10	chr4:16518000-16520400	Enhancers	Fetal Brain Male	brain
11	chr4:16518200-16519800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr4:16518200-16519800	Enhancers	Brain Angular Gyrus	brain
13	chr4:16518200-16519800	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr4:16518200-16520000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr4:16518200-16520000	Enhancers	Fetal Brain Female	brain
16	chr4:16518400-16520000	Enhancers	Brain Germinal Matrix	brain
17	chr4:16518600-16519800	Enhancers	Brain Hippocampus Middle	brain
18	chr4:16518800-16521000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:16518800-16522200	Weak transcription	Right Atrium	heart
20	chr4:16519200-16525600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr4:16519400-16521400	Weak transcription	Ovary	ovary
22	chr4:16519400-16522200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr4:16519400-16525400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr4:16519400-16525800	Weak transcription	Fetal Muscle Leg	muscle
25	chr4:16519600-16520200	Enhancers	Fetal Lung	lung
26	chr4:16519600-16524600	Weak transcription	Brain Substantia Nigra	brain
27	chr4:16519800-16522200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr4:16519800-16525600	Weak transcription	Brain Angular Gyrus	brain
29	chr4:16519800-16525600	Weak transcription	Brain Hippocampus Middle	brain
30	chr4:16520000-16525800	Weak transcription	Fetal Brain Female	brain
31	chr4:16520200-16522000	Weak transcription	Fetal Lung	lung
32	chr4:16520400-16521600	Weak transcription	Fetal Brain Male	brain
33	chr4:16521000-16521200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:16521400-16523000	Enhancers	Ovary	ovary
35	chr4:16521600-16522400	Enhancers	Fetal Brain Male	brain
36	chr4:16522000-16523200	Enhancers	Fetal Lung	lung
37	chr4:16522200-16522800	Enhancers	Lung	lung
38	chr4:16522200-16522800	Enhancers	Spleen	Spleen
39	chr4:16522200-16523000	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr4:16522200-16523000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr4:16522200-16523000	Enhancers	Fetal Muscle Trunk	muscle
42	chr4:16522200-16523000	Enhancers	Left Ventricle	heart
43	chr4:16522200-16523000	Enhancers	Right Atrium	heart
44	chr4:16522200-16523200	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr4:16522400-16522800	Enhancers	Placenta	Placenta
46	chr4:16522400-16523800	Weak transcription	Fetal Brain Male	brain
47	chr4:16522800-16538000	Weak transcription	Lung	lung
48	chr4:16523000-16525200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr4:16523000-16526800	Weak transcription	Fetal Muscle Trunk	muscle
50	chr4:16523000-16526800	Weak transcription	Left Ventricle	heart

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