Variant report

Variant	nsv1010560
Chromosome Location	chr4:18892570-18968334
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:18940784..18943310-chr4:18944237..18946606,2	MCF-7	breast:
2	chr4:18950635..18953353-chr4:18955164..18956778,2	MCF-7	breast:
3	chr4:18940784..18943310-chr4:18944237..18946606,2	MCF-7	breast:
4	chr4:18951785..18953802-chr4:18956530..18958519,2	K562	blood:
5	chr4:18692929..18693559-chr4:18935588..18936089,2	MCF-7	breast:
6	chr4:18891757..18894145-chr4:18896407..18898012,2	K562	blood:
7	chr4:18939805..18940633-chr4:18956077..18956886,2	MCF-7	breast:
8	chr4:18951785..18953802-chr4:18956530..18958519,2	K562	blood:
9	chr4:18939805..18940633-chr4:18956077..18956886,2	MCF-7	breast:
10	chr4:18891757..18894145-chr4:18896407..18898012,2	K562	blood:
11	chr4:18950635..18953353-chr4:18955164..18956778,2	MCF-7	breast:
12	chr4:18690893..18691553-chr4:18935532..18936461,3	MCF-7	breast:

No data

Extended variants
information (count: 1168 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1168 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542573375	chr4:18902084-18902085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531871910	chr4:18902131-18902132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560989044	chr4:18902152-18902153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183799252	chr4:18902161-18902162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187468119	chr4:18902171-18902172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547008523	chr4:18902199-18902200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192076672	chr4:18902232-18902233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532566546	chr4:18902258-18902259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112656426	chr4:18902299-18902300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551220323	chr4:18902371-18902372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184128189	chr4:18902385-18902386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376686550	chr4:18902400-18902401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186856173	chr4:18902416-18902417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148160717	chr4:18902562-18902563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116735826	chr4:18902565-18902566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192330395	chr4:18902569-18902570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs141970434	chr4:18902659-18902660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552956264	chr4:18902678-18902679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549886891	chr4:18902686-18902687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374405726	chr4:18902758-18902759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550353000	chr4:18902808-18902809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577891150	chr4:18902851-18902852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368754439	chr4:18902879-18902880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184343783	chr4:18902900-18902901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190450027	chr4:18903066-18903067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556747668	chr4:18903077-18903078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575326797	chr4:18903092-18903093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76840035	chr4:18903096-18903097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561316401	chr4:18903112-18903113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573192708	chr4:18903135-18903136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533111136	chr4:18903166-18903167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540640230	chr4:18903210-18903211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200074372	chr4:18903214-18903215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565414612	chr4:18903218-18903219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532862118	chr4:18903248-18903249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544808038	chr4:18903264-18903265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563120157	chr4:18903291-18903292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6449432	chr4:18903366-18903367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549132002	chr4:18903367-18903368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182531849	chr4:18903437-18903438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184832804	chr4:18903463-18903464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189264193	chr4:18903468-18903469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546891637	chr4:18903490-18903491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs34404048	chr4:18903503-18903504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7666543	chr4:18903504-18903505	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs369040243	chr4:18903534-18903535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181578071	chr4:18903538-18903539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568741312	chr4:18903540-18903541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185747750	chr4:18903544-18903545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190068882	chr4:18903566-18903567	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
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
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:18902000-18902600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:18902000-18903800	Enhancers	Fetal Heart	heart
3	chr4:18909000-18909200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:18913800-18915200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:18914800-18916800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:18914800-18916800	Enhancers	NHEK	skin
7	chr4:18915000-18916600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:18915200-18916000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:18915200-18916800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr4:18915200-18916800	Enhancers	HMEC	breast
11	chr4:18925200-18926800	Enhancers	Fetal Heart	heart
12	chr4:18925400-18925800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:18932000-18932400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:18932400-18937400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:18933600-18934600	Enhancers	Fetal Kidney	kidney
16	chr4:18933800-18936000	Enhancers	Fetal Heart	heart
17	chr4:18934600-18937200	Weak transcription	Fetal Kidney	kidney
18	chr4:18935200-18935400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:18935400-18936200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr4:18936000-18937200	Weak transcription	Fetal Heart	heart
21	chr4:18936200-18936400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr4:18936200-18937800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr4:18936400-18937200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr4:18937200-18937800	Enhancers	H9 Cell Line	embryonic stem cell
25	chr4:18937200-18937800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr4:18937200-18937800	Enhancers	Fetal Kidney	kidney
27	chr4:18937200-18938000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr4:18937200-18938000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr4:18937200-18938000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr4:18937400-18937600	Enhancers	Fetal Heart	heart
31	chr4:18937400-18937600	Enhancers	Fetal Lung	lung
32	chr4:18937400-18937800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:18937400-18938000	Enhancers	H1 Cell Line	embryonic stem cell
34	chr4:18937400-18938000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:18937400-18938000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:18937400-18938000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr4:18937400-18938000	Enhancers	Gastric	stomach
38	chr4:18937400-18938400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr4:18937600-18938000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:18937600-18940400	Weak transcription	Fetal Lung	lung
41	chr4:18938000-18939000	Weak transcription	Gastric	stomach
42	chr4:18938000-18939400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:18939000-18939600	Enhancers	Gastric	stomach
44	chr4:18939400-18939600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr4:18940400-18940800	Enhancers	Fetal Lung	lung
46	chr4:18940600-18941200	Enhancers	Primary B cells from cord blood	blood
47	chr4:18945800-18946800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr4:18946800-18949200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr4:18949200-18949600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr4:18949600-18951600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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