Variant report

Variant	nsv537049
Chromosome Location	chr4:16521109-16554088
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	chr4:16528995..16531404-chr4:16534036..16535687,2	K562	blood:
2	chr4:16530579..16533568-chr4:16546056..16548271,2	K562	blood:
3	chr4:16530579..16533568-chr4:16546056..16548271,2	K562	blood:
4	chr4:16528995..16531404-chr4:16534036..16535687,2	K562	blood:
5	chr4:16530273..16533933-chr4:16538992..16541453,3	K562	blood:
6	chr4:16546369..16548367-chr4:16549828..16551938,2	MCF-7	breast:
7	chr20:11213940..11214546-chr4:16552592..16553227,2	MCF-7	breast:
8	chr4:16530273..16533933-chr4:16538992..16541453,3	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: 1205 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:1205 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562573980	chr4:16521114-16521115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576069872	chr4:16521146-16521147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544381111	chr4:16521173-16521174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs13130648	chr4:16521201-16521202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112614515	chr4:16521206-16521207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564366506	chr4:16521218-16521219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148997324	chr4:16521220-16521221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546929494	chr4:16521236-16521237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564024695	chr4:16521254-16521255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143827881	chr4:16521308-16521309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529239280	chr4:16521389-16521390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549132680	chr4:16521399-16521400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569302272	chr4:16521426-16521427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189861734	chr4:16521434-16521435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113865411	chr4:16521441-16521442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs180702968	chr4:16521447-16521448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570061879	chr4:16521467-16521468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571516479	chr4:16521487-16521488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534071812	chr4:16521533-16521534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554070648	chr4:16521534-16521535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567468953	chr4:16521543-16521544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201016275	chr4:16521553-16521554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185377707	chr4:16521644-16521645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555918923	chr4:16521647-16521648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576064055	chr4:16521654-16521655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs151082843	chr4:16521664-16521665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372005146	chr4:16521679-16521680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577774547	chr4:16521680-16521681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs6843498	chr4:16521723-16521724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138286872	chr4:16521740-16521741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560812041	chr4:16521758-16521759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529575783	chr4:16521763-16521764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190918005	chr4:16521772-16521773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs62296892	chr4:16521801-16521802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531841117	chr4:16521830-16521831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs200606148	chr4:16521921-16521922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs397705590	chr4:16521931-16521932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116352855	chr4:16521932-16521933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201468733	chr4:16521933-16521934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34195635	chr4:16522025-16522026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181854914	chr4:16522051-16522052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571781808	chr4:16522088-16522089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs115393517	chr4:16522141-16522142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547286775	chr4:16522152-16522153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567532612	chr4:16522169-16522170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs114257256	chr4:16522224-16522225	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556118386	chr4:16522230-16522231	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114876970	chr4:16522270-16522271	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141059567	chr4:16522277-16522278	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs187609077	chr4:16522282-16522283	Weak transcription Enhancers Genic 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:306 , 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	chr4:16518800-16522200	Weak transcription	Right Atrium	heart
11	chr4:16519200-16525600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr4:16519400-16521400	Weak transcription	Ovary	ovary
13	chr4:16519400-16522200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr4:16519400-16525400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr4:16519400-16525800	Weak transcription	Fetal Muscle Leg	muscle
16	chr4:16519600-16524600	Weak transcription	Brain Substantia Nigra	brain
17	chr4:16519800-16522200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr4:16519800-16525600	Weak transcription	Brain Angular Gyrus	brain
19	chr4:16519800-16525600	Weak transcription	Brain Hippocampus Middle	brain
20	chr4:16520000-16525800	Weak transcription	Fetal Brain Female	brain
21	chr4:16520200-16522000	Weak transcription	Fetal Lung	lung
22	chr4:16520400-16521600	Weak transcription	Fetal Brain Male	brain
23	chr4:16521000-16521200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:16521400-16523000	Enhancers	Ovary	ovary
25	chr4:16521600-16522400	Enhancers	Fetal Brain Male	brain
26	chr4:16522000-16523200	Enhancers	Fetal Lung	lung
27	chr4:16522200-16522800	Enhancers	Lung	lung
28	chr4:16522200-16522800	Enhancers	Spleen	Spleen
29	chr4:16522200-16523000	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr4:16522200-16523000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr4:16522200-16523000	Enhancers	Fetal Muscle Trunk	muscle
32	chr4:16522200-16523000	Enhancers	Left Ventricle	heart
33	chr4:16522200-16523000	Enhancers	Right Atrium	heart
34	chr4:16522200-16523200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr4:16522400-16522800	Enhancers	Placenta	Placenta
36	chr4:16522400-16523800	Weak transcription	Fetal Brain Male	brain
37	chr4:16522800-16538000	Weak transcription	Lung	lung
38	chr4:16523000-16525200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr4:16523000-16526800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr4:16523000-16526800	Weak transcription	Left Ventricle	heart
41	chr4:16523000-16530200	Weak transcription	Right Atrium	heart
42	chr4:16523000-16531000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr4:16523200-16525600	Weak transcription	Fetal Lung	lung
44	chr4:16523400-16523800	Enhancers	HUVEC	blood vessel
45	chr4:16523800-16524200	Enhancers	Fetal Brain Male	brain
46	chr4:16524200-16526000	Weak transcription	Fetal Brain Male	brain
47	chr4:16524600-16527000	Enhancers	Brain Substantia Nigra	brain
48	chr4:16525200-16525800	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr4:16525200-16527200	Enhancers	Brain Anterior Caudate	brain
50	chr4:16525400-16525600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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