Variant report

Variant	nsv1006775
Chromosome Location	chr4:18932671-18988369
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:18690893..18691553-chr4:18935532..18936461,3	MCF-7	breast:
2	chr4:18940784..18943310-chr4:18944237..18946606,2	MCF-7	breast:
3	chr4:18950635..18953353-chr4:18955164..18956778,2	MCF-7	breast:
4	chr4:18951785..18953802-chr4:18956530..18958519,2	K562	blood:
5	chr4:18940784..18943310-chr4:18944237..18946606,2	MCF-7	breast:
6	chr4:18939805..18940633-chr4:18956077..18956886,2	MCF-7	breast:
7	chr4:18692929..18693559-chr4:18935588..18936089,2	MCF-7	breast:
8	chr4:18951785..18953802-chr4:18956530..18958519,2	K562	blood:
9	chr4:18985201..18987077-chr4:18989003..18991039,2	K562	blood:
10	chr4:18950635..18953353-chr4:18955164..18956778,2	MCF-7	breast:
11	chr4:18939805..18940633-chr4:18956077..18956886,2	MCF-7	breast:

No data

Extended variants
information (count: 1169 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1169 , 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	rs115785822	chr4:18932677-18932678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78156353	chr4:18932679-18932680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553997281	chr4:18932699-18932700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73801144	chr4:18932707-18932708	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs189090358	chr4:18932720-18932721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564421335	chr4:18932745-18932746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1990495	chr4:18932770-18932771	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs182540480	chr4:18932810-18932811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369090571	chr4:18932846-18932847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562266915	chr4:18932887-18932888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529466239	chr4:18932890-18932891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372675893	chr4:18932904-18932905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185519992	chr4:18932905-18932906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527261972	chr4:18932923-18932924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552230002	chr4:18932957-18932958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146589051	chr4:18932978-18932979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190423434	chr4:18932987-18932988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536370097	chr4:18933026-18933027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140075434	chr4:18933028-18933029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568219640	chr4:18933087-18933088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143643686	chr4:18933094-18933095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554225627	chr4:18933107-18933108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554234803	chr4:18933111-18933112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181444444	chr4:18933154-18933155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs386672257	chr4:18933155-18933156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10489055	chr4:18933156-18933157	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs373015412	chr4:18933190-18933191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543660341	chr4:18933300-18933301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185737500	chr4:18933314-18933315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148919322	chr4:18933377-18933378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574141413	chr4:18933398-18933399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541297022	chr4:18933418-18933419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560170106	chr4:18933446-18933447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527430069	chr4:18933463-18933464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545923883	chr4:18933471-18933472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs367573956	chr4:18933512-18933513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564025298	chr4:18933529-18933530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190102104	chr4:18933542-18933543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550017185	chr4:18933588-18933589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568300013	chr4:18933591-18933592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529061566	chr4:18933680-18933681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs116214191	chr4:18933722-18933723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs180946302	chr4:18933727-18933728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539509697	chr4:18933733-18933734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs151006660	chr4:18933792-18933793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553313169	chr4:18933801-18933802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186187849	chr4:18933804-18933805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569689199	chr4:18933875-18933876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537068414	chr4:18933892-18933893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376774993	chr4:18933895-18933896	Weak transcription 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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:18932400-18937400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:18933600-18934600	Enhancers	Fetal Kidney	kidney
3	chr4:18933800-18936000	Enhancers	Fetal Heart	heart
4	chr4:18934600-18937200	Weak transcription	Fetal Kidney	kidney
5	chr4:18935200-18935400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:18935400-18936200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:18936000-18937200	Weak transcription	Fetal Heart	heart
8	chr4:18936200-18936400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:18936200-18937800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr4:18936400-18937200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:18937200-18937800	Enhancers	H9 Cell Line	embryonic stem cell
12	chr4:18937200-18937800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr4:18937200-18937800	Enhancers	Fetal Kidney	kidney
14	chr4:18937200-18938000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:18937200-18938000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr4:18937200-18938000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr4:18937400-18937600	Enhancers	Fetal Heart	heart
18	chr4:18937400-18937600	Enhancers	Fetal Lung	lung
19	chr4:18937400-18937800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:18937400-18938000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr4:18937400-18938000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:18937400-18938000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:18937400-18938000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:18937400-18938000	Enhancers	Gastric	stomach
25	chr4:18937400-18938400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr4:18937600-18938000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr4:18937600-18940400	Weak transcription	Fetal Lung	lung
28	chr4:18938000-18939000	Weak transcription	Gastric	stomach
29	chr4:18938000-18939400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:18939000-18939600	Enhancers	Gastric	stomach
31	chr4:18939400-18939600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:18940400-18940800	Enhancers	Fetal Lung	lung
33	chr4:18940600-18941200	Enhancers	Primary B cells from cord blood	blood
34	chr4:18945800-18946800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr4:18946800-18949200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr4:18949200-18949600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr4:18949600-18951600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr4:18950800-18951200	Enhancers	Fetal Lung	lung
39	chr4:18955600-18955800	Enhancers	Fetal Kidney	kidney
40	chr4:18955800-18959200	Weak transcription	Fetal Kidney	kidney
41	chr4:18958800-18959600	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr4:18959200-18959400	Enhancers	Fetal Kidney	kidney
43	chr4:18959400-18959800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr4:18959400-18959800	Weak transcription	Fetal Kidney	kidney
45	chr4:18959400-18960600	Enhancers	Fetal Lung	lung
46	chr4:18959800-18960200	Enhancers	Fetal Kidney	kidney
47	chr4:18960000-18960400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr4:18962800-18963800	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr4:18962800-18964400	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr4:18963000-18963200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links