Variant report

Variant	nsv461223
Chromosome Location	chr4:8647233-8683744
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:8646299..8649140-chr4:8652570..8655167,2	K562	blood:
2	chr4:8649453..8651448-chr4:8659369..8661380,2	MCF-7	breast:
3	chr4:8657843..8659725-chr4:8665360..8667377,2	MCF-7	breast:
4	chr4:8643957..8646441-chr4:8648684..8651421,2	MCF-7	breast:
5	chr4:8654425..8657330-chr7:61967859..61969474,2	MCF-7	breast:
6	chr4:8649831..8652641-chr4:8656604..8658458,2	K562	blood:
7	chr4:8657922..8660434-chr4:8662931..8664931,2	K562	blood:
8	chr4:8641181..8642723-chr4:8648783..8650662,2	MCF-7	breast:
9	chr4:8682718..8684639-chr4:8704262..8707197,2	MCF-7	breast:
10	chr4:8657922..8660434-chr4:8662931..8664931,2	K562	blood:
11	chr4:8649551..8650162-chr4:8919707..8920368,2	MCF-7	breast:
12	chr4:8657843..8659725-chr4:8665360..8667377,2	MCF-7	breast:
13	chr4:8648999..8649710-chr4:8883912..8884471,2	MCF-7	breast:
14	chr4:8649831..8652641-chr4:8656604..8658458,2	K562	blood:
15	chr4:8646299..8649140-chr4:8652570..8655167,2	K562	blood:
16	chr4:8649453..8651448-chr4:8659369..8661380,2	MCF-7	breast:
17	chr4:8667609..8668516-chr4:8887656..8888210,2	MCF-7	breast:
18	chr4:8677416..8680217-chr4:8770931..8773550,2	K562	blood:

No data

Extended variants
information (count: 1214 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1214 , 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	rs4077958	chr4:8647233-8647234	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs35864777	chr4:8647257-8647258	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs4077960	chr4:8647258-8647259	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs374105400	chr4:8647263-8647264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531897925	chr4:8647272-8647273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78379308	chr4:8647279-8647280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs67979603	chr4:8647308-8647309	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs77883188	chr4:8647317-8647318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547374936	chr4:8647328-8647329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565885030	chr4:8647330-8647331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192483057	chr4:8647332-8647333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183429925	chr4:8647333-8647334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573770935	chr4:8647380-8647381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538017757	chr4:8647433-8647434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556213392	chr4:8647467-8647468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577987538	chr4:8647468-8647469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545063996	chr4:8647472-8647473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs34267223	chr4:8647476-8647477	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs572028880	chr4:8647513-8647514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs4696884	chr4:8647514-8647515	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs561008593	chr4:8647535-8647536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531837910	chr4:8647536-8647537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543977942	chr4:8647550-8647551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565274522	chr4:8647551-8647552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532660393	chr4:8647554-8647555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs367959451	chr4:8647583-8647584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547641135	chr4:8647590-8647591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565747624	chr4:8647600-8647601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374436800	chr4:8647640-8647641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548416925	chr4:8647650-8647651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547797618	chr4:8647653-8647654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376453951	chr4:8647699-8647700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4696885	chr4:8647708-8647709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150940745	chr4:8647714-8647715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140685963	chr4:8647718-8647719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150173336	chr4:8647732-8647733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538943557	chr4:8647738-8647739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554072808	chr4:8647746-8647747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572092373	chr4:8647748-8647749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542584751	chr4:8647753-8647754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs386671403	chr4:8647795-8647796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10025481	chr4:8647796-8647797	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs138741462	chr4:8647801-8647802	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs543701114	chr4:8647818-8647819	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs565142687	chr4:8647821-8647822	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs541130358	chr4:8647851-8647852	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs187620004	chr4:8647852-8647853	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs541343598	chr4:8647856-8647857	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs73078096	chr4:8647885-8647886	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs375205468	chr4:8647892-8647893	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Melanoma	20688739	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	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
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8643200-8647600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:8646600-8648000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:8646600-8648000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:8647600-8648000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:8647800-8648200	Bivalent Enhancer	Fetal Kidney	kidney
6	chr4:8648000-8649000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:8648000-8650800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:8648200-8648800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:8648800-8650800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr4:8649000-8651400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:8650800-8651000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:8650800-8652000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:8651000-8651400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:8651200-8651400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:8651400-8651600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:8651400-8651600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:8651400-8651600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr4:8651400-8654200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:8651600-8651800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:8651600-8653800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr4:8653800-8655600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr4:8654200-8655600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:8654400-8655400	Enhancers	H1 Cell Line	embryonic stem cell
24	chr4:8655600-8665800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr4:8659600-8660200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:8662400-8662800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr4:8662800-8666000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr4:8665800-8666400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:8665800-8666600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr4:8665800-8667000	Enhancers	H1 Cell Line	embryonic stem cell
31	chr4:8665800-8667200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr4:8666000-8666600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr4:8666000-8666600	Enhancers	H9 Cell Line	embryonic stem cell
34	chr4:8666000-8666600	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr4:8666000-8666600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
36	chr4:8666000-8666800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr4:8666000-8666800	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr4:8666000-8667800	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr4:8666200-8666600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
40	chr4:8666600-8666800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
41	chr4:8666600-8667200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr4:8666800-8667000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
43	chr4:8667000-8667200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
44	chr4:8667200-8667400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr4:8667200-8667600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr4:8674400-8674600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr4:8676200-8676600	Enhancers	Brain Anterior Caudate	brain
48	chr4:8676600-8676800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr4:8676800-8677600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr4:8677000-8677600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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