Variant report

Variant	nsv980440
Chromosome Location	chr4:21765590-21771393
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:21513432..21514751-chr4:21767040..21768803,10	MCF-7	breast:
2	chr4:21513660..21514733-chr4:21769803..21771071,4	MCF-7	breast:
3	chr4:21765094..21766763-chr4:21768387..21770633,2	K562	blood:
4	chr4:21765094..21766763-chr4:21768387..21770633,2	K562	blood:
5	chr4:21513582..21515656-chr4:21764630..21766290,2	MCF-7	breast:
6	chr4:21513547..21514492-chr4:21769669..21770605,6	MCF-7	breast:
7	chr4:21769756..21770575-chr4:22358426..22359045,2	MCF-7	breast:
8	chr4:21508722..21509309-chr4:21767490..21768052,2	MCF-7	breast:

No data

Extended variants
information (count: 242 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:242 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16871866	chr4:21765615-21765616	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537368850	chr4:21765635-21765636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374147757	chr4:21765639-21765640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76552739	chr4:21765651-21765652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150499944	chr4:21765664-21765665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138393018	chr4:21765749-21765750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10014212	chr4:21765751-21765752	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs572486983	chr4:21765795-21765796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192593988	chr4:21765799-21765800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564167814	chr4:21765845-21765846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531856420	chr4:21765869-21765870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559160716	chr4:21765894-21765895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550071878	chr4:21765924-21765925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs13105154	chr4:21765997-21765998	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs529487529	chr4:21766000-21766001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149265079	chr4:21766003-21766004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146222959	chr4:21766013-21766014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114154371	chr4:21766020-21766021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551371290	chr4:21766105-21766106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377186815	chr4:21766109-21766110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569680881	chr4:21766125-21766126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533975600	chr4:21766137-21766138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs139294281	chr4:21766152-21766153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs17564865	chr4:21766193-21766194	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs545580555	chr4:21766204-21766205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532121764	chr4:21766207-21766208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574028858	chr4:21766208-21766209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534805003	chr4:21766240-21766241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144121313	chr4:21766259-21766260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146000865	chr4:21766283-21766284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546002922	chr4:21766330-21766331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4577567	chr4:21766363-21766364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564098652	chr4:21766378-21766379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576032205	chr4:21766379-21766380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543456849	chr4:21766392-21766393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1459275	chr4:21766423-21766424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562033250	chr4:21766482-21766483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148679789	chr4:21766504-21766505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184982414	chr4:21766554-21766555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573892625	chr4:21766555-21766556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559715820	chr4:21766560-21766561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368334382	chr4:21766607-21766608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551513920	chr4:21766612-21766613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189812479	chr4:21766616-21766617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142228882	chr4:21766618-21766619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs151241118	chr4:21766662-21766663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556207158	chr4:21766688-21766689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567536739	chr4:21766719-21766720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534640384	chr4:21766744-21766745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553104448	chr4:21766754-21766755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
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
Oral squamous cell carcinoma	17134496	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
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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21762000-21765800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr4:21764000-21766000	Enhancers	Colon Smooth Muscle	Colon
3	chr4:21764200-21766400	Enhancers	Fetal Heart	heart
4	chr4:21764600-21765600	Enhancers	Rectal Smooth Muscle	rectum
5	chr4:21765000-21765800	Weak transcription	HMEC	breast
6	chr4:21765600-21766000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:21765600-21766000	Enhancers	Fetal Brain Male	brain
8	chr4:21765800-21766000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr4:21765800-21766000	Enhancers	Fetal Lung	lung
10	chr4:21765800-21766400	Enhancers	HMEC	breast
11	chr4:21766000-21766200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr4:21766000-21771000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:21766200-21766600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:21766400-21767600	Weak transcription	Fetal Heart	heart
15	chr4:21766400-21770000	Weak transcription	HMEC	breast
16	chr4:21766600-21780200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:21767000-21767200	Enhancers	Fetal Brain Male	brain
18	chr4:21767600-21767800	Enhancers	Fetal Heart	heart
19	chr4:21767600-21768800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr4:21767600-21768800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr4:21767800-21768000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:21767800-21768000	Enhancers	NHEK	skin
23	chr4:21767800-21768800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr4:21767800-21768800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr4:21767800-21769000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr4:21767800-21769000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:21768000-21768400	Enhancers	H1 Cell Line	embryonic stem cell
28	chr4:21768000-21770000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:21768400-21768600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr4:21768600-21769000	Enhancers	H1 Cell Line	embryonic stem cell
31	chr4:21768800-21769000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:21768800-21769200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr4:21768800-21769200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr4:21768800-21769800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr4:21769000-21769800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr4:21769200-21770200	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr4:21769400-21780400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr4:21770000-21770200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr4:21770000-21770200	Enhancers	H1 Cell Line	embryonic stem cell
40	chr4:21770000-21770200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr4:21770000-21770200	Enhancers	Adipose Nuclei	Adipose
42	chr4:21770000-21770200	Enhancers	Liver	Liver
43	chr4:21770000-21770200	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr4:21770000-21770200	Flanking Active TSS	HUVEC	blood vessel
45	chr4:21770000-21770400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr4:21770000-21771000	Enhancers	NH-A	brain
47	chr4:21770000-21771400	Enhancers	NHEK	skin
48	chr4:21770000-21771600	Enhancers	Muscle Satellite Cultured Cells	--
49	chr4:21770000-21771600	Enhancers	HMEC	breast
50	chr4:21770000-21771600	Enhancers	Osteobl	bone

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