Variant report

Variant	nsv461222
Chromosome Location	chr4:8644223-8729638
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:43)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:8682718..8684639-chr4:8704262..8707197,2	MCF-7	breast:
2	chr4:8649831..8652641-chr4:8656604..8658458,2	K562	blood:
3	chr4:8657922..8660434-chr4:8662931..8664931,2	K562	blood:
4	chr4:8689272..8690551-chr4:8887541..8888216,4	MCF-7	breast:
5	chr4:8649831..8652641-chr4:8656604..8658458,2	K562	blood:
6	chr4:8693492..8696360-chr4:8722183..8724152,2	MCF-7	breast:
7	chr4:8709792..8713378-chr4:8726638..8730577,3	K562	blood:
8	chr4:8715458..8718338-chr4:8719661..8722261,4	MCF-7	breast:
9	chr4:8667609..8668516-chr4:8887656..8888210,2	MCF-7	breast:
10	chr4:8723681..8726595-chr4:8727045..8729022,2	MCF-7	breast:
11	chr4:8677416..8680217-chr4:8770931..8773550,2	K562	blood:
12	chr4:8728690..8730772-chr4:10106539..10108201,2	K562	blood:
13	chr4:8690025..8690993-chr4:8919534..8920174,2	MCF-7	breast:
14	chr4:8707817..8709520-chr4:8713049..8714741,2	MCF-7	breast:
15	chr4:8643957..8646441-chr4:8648684..8651421,2	MCF-7	breast:
16	chr4:8649453..8651448-chr4:8659369..8661380,2	MCF-7	breast:
17	chr4:8722609..8725304-chr4:8746886..8749545,2	MCF-7	breast:
18	chr4:8639250..8640927-chr4:8642390..8645117,2	K562	blood:
19	chr4:8701567..8704524-chr4:8729204..8732158,2	K562	blood:
20	chr4:8649453..8651448-chr4:8659369..8661380,2	MCF-7	breast:
21	chr4:8646299..8649140-chr4:8652570..8655167,2	K562	blood:
22	chr4:8693492..8696360-chr4:8722183..8724152,2	MCF-7	breast:
23	chr4:8689647..8690533-chr4:8887295..8888077,4	K562	blood:
24	chr4:8709795..8712592-chr4:8714328..8716618,2	MCF-7	breast:
25	chr4:8727792..8729635-chr4:8777761..8780174,2	MCF-7	breast:
26	chr4:8682718..8684639-chr4:8704262..8707197,2	MCF-7	breast:
27	chr4:8707817..8709520-chr4:8713049..8714741,2	MCF-7	breast:
28	chr4:8689949..8690495-chr4:8884145..8884993,2	MCF-7	breast:
29	chr4:8709792..8713378-chr4:8726638..8730577,3	K562	blood:
30	chr4:8720313..8722738-chr4:8763583..8766332,2	MCF-7	breast:
31	chr4:8709795..8712592-chr4:8714328..8716618,2	MCF-7	breast:
32	chr4:8715458..8718338-chr4:8719661..8722261,4	MCF-7	breast:
33	chr4:8701567..8704524-chr4:8729204..8732158,2	K562	blood:
34	chr4:8654425..8657330-chr7:61967859..61969474,2	MCF-7	breast:
35	chr4:8643957..8646441-chr4:8648684..8651421,2	MCF-7	breast:
36	chr4:8646299..8649140-chr4:8652570..8655167,2	K562	blood:
37	chr4:8657843..8659725-chr4:8665360..8667377,2	MCF-7	breast:
38	chr4:8649551..8650162-chr4:8919707..8920368,2	MCF-7	breast:
39	chr4:8657922..8660434-chr4:8662931..8664931,2	K562	blood:
40	chr4:8648999..8649710-chr4:8883912..8884471,2	MCF-7	breast:
41	chr4:8657843..8659725-chr4:8665360..8667377,2	MCF-7	breast:
42	chr4:8723681..8726595-chr4:8727045..8729022,2	MCF-7	breast:
43	chr4:8641181..8642723-chr4:8648783..8650662,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000250915	chromatin interactions
ENSG00000071127	chromatin interactions

Extended variants
information (count: 3714 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:3714 , 50 per page) page: 1 2 3 4 5 6 7 ... 75

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4696883	chr4:8644223-8644224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191669854	chr4:8644226-8644227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112358629	chr4:8644230-8644231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113506808	chr4:8644235-8644236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181097069	chr4:8644317-8644318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs62288627	chr4:8644328-8644329	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs186380231	chr4:8644336-8644337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113359689	chr4:8644405-8644406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75133773	chr4:8644450-8644451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9994747	chr4:8644457-8644458	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs80111293	chr4:8644472-8644473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542687914	chr4:8644476-8644477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74491197	chr4:8644503-8644504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575948657	chr4:8644506-8644507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543164056	chr4:8644508-8644509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564956799	chr4:8644518-8644519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190266669	chr4:8644533-8644534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112018020	chr4:8644558-8644559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566245787	chr4:8644573-8644574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547561941	chr4:8644589-8644590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4591583	chr4:8644593-8644594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544155089	chr4:8644597-8644598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113326676	chr4:8644608-8644609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142972604	chr4:8644619-8644620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs4371603	chr4:8644650-8644651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530319598	chr4:8644680-8644681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182196669	chr4:8644694-8644695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144552030	chr4:8644696-8644697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548223271	chr4:8644697-8644698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11946887	chr4:8644713-8644714	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs537411520	chr4:8644745-8644746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs4696708	chr4:8644746-8644747	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs151100214	chr4:8644751-8644752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186754016	chr4:8644812-8644813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11943252	chr4:8644818-8644819	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs190835471	chr4:8644839-8644840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73215217	chr4:8644840-8644841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183951054	chr4:8644854-8644855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554001487	chr4:8644876-8644877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572418974	chr4:8644891-8644892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188557198	chr4:8644911-8644912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554866375	chr4:8644918-8644919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142520953	chr4:8644928-8644929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564699997	chr4:8644933-8644934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs532138675	chr4:8644934-8644935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543375802	chr4:8644953-8644954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192913638	chr4:8644965-8644966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537158579	chr4:8644996-8644997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs4487322	chr4:8644997-8644998	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs541265575	chr4:8645001-8645002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:223 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8641400-8646600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:8643200-8647600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:8644200-8645800	Enhancers	Placenta Amnion	Placenta Amnion
4	chr4:8645000-8645400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:8645600-8646600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr4:8645800-8646600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr4:8645800-8646800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr4:8646400-8646600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:8646600-8648000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:8646600-8648000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:8647600-8648000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:8647800-8648200	Bivalent Enhancer	Fetal Kidney	kidney
13	chr4:8648000-8649000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:8648000-8650800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:8648200-8648800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr4:8648800-8650800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr4:8649000-8651400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:8650800-8651000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:8650800-8652000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr4:8651000-8651400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr4:8651200-8651400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr4:8651400-8651600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:8651400-8651600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr4:8651400-8651600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr4:8651400-8654200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:8651600-8651800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:8651600-8653800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr4:8653800-8655600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr4:8654200-8655600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:8654400-8655400	Enhancers	H1 Cell Line	embryonic stem cell
31	chr4:8655600-8665800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr4:8659600-8660200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr4:8662400-8662800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr4:8662800-8666000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr4:8665800-8666400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr4:8665800-8666600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr4:8665800-8667000	Enhancers	H1 Cell Line	embryonic stem cell
38	chr4:8665800-8667200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr4:8666000-8666600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr4:8666000-8666600	Enhancers	H9 Cell Line	embryonic stem cell
41	chr4:8666000-8666600	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr4:8666000-8666600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
43	chr4:8666000-8666800	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr4:8666000-8666800	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr4:8666000-8667800	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr4:8666200-8666600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
47	chr4:8666600-8666800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
48	chr4:8666600-8667200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr4:8666800-8667000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
50	chr4:8667000-8667200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell

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