Variant report

Variant	nsv1003321
Chromosome Location	chr4:18936051-19117825
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:18939805..18940633-chr4:18956077..18956886,2	MCF-7	breast:
2	chr4:18951785..18953802-chr4:18956530..18958519,2	K562	blood:
3	chr4:18939805..18940633-chr4:18956077..18956886,2	MCF-7	breast:
4	chr4:18950635..18953353-chr4:18955164..18956778,2	MCF-7	breast:
5	chr4:18940784..18943310-chr4:18944237..18946606,2	MCF-7	breast:
6	chr4:18951785..18953802-chr4:18956530..18958519,2	K562	blood:
7	chr4:18692929..18693559-chr4:18935588..18936089,2	MCF-7	breast:
8	chr4:18690893..18691553-chr4:18935532..18936461,3	MCF-7	breast:
9	chr4:18985201..18987077-chr4:18989003..18991039,2	K562	blood:
10	chr4:18950635..18953353-chr4:18955164..18956778,2	MCF-7	breast:
11	chr4:19078847..19080844-chr4:19084174..19086115,2	MCF-7	breast:
12	chr19:49990781..49991366-chr4:19000460..19000979,2	HCT-116	colon:
13	chr4:19078847..19080844-chr4:19084174..19086115,2	MCF-7	breast:
14	chr4:18940784..18943310-chr4:18944237..18946606,2	MCF-7	breast:
15	chr4:18985201..18987077-chr4:18989003..18991039,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000142541	chromatin interactions

Extended variants
information (count: 3327 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:3327 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs207286	chr4:18936051-18936052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557237672	chr4:18936082-18936083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575328929	chr4:18936083-18936084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542834231	chr4:18936152-18936153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561220618	chr4:18936166-18936167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528635907	chr4:18936207-18936208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146123648	chr4:18936212-18936213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140107552	chr4:18936216-18936217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554654694	chr4:18936218-18936219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143710692	chr4:18936220-18936221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551263390	chr4:18936224-18936225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs151266114	chr4:18936231-18936232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530212172	chr4:18936232-18936233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548812011	chr4:18936336-18936337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569699607	chr4:18936342-18936343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139267357	chr4:18936366-18936367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534375933	chr4:18936382-18936383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192220734	chr4:18936415-18936416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149981590	chr4:18936468-18936469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184423013	chr4:18936481-18936482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556953564	chr4:18936498-18936499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575540320	chr4:18936627-18936628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1452556	chr4:18936647-18936648	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs145144862	chr4:18936648-18936649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547198488	chr4:18936664-18936665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567219105	chr4:18936710-18936711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535902225	chr4:18936735-18936736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573076061	chr4:18936762-18936763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188982441	chr4:18936763-18936764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142278975	chr4:18936784-18936785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs578243983	chr4:18936789-18936790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs207285	chr4:18936805-18936806	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs554371145	chr4:18936813-18936814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544623946	chr4:18936865-18936866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570010856	chr4:18936866-18936867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370451624	chr4:18936877-18936878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563038575	chr4:18936887-18936888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146072275	chr4:18936931-18936932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548610750	chr4:18936933-18936934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538825391	chr4:18936934-18936935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577466483	chr4:18936969-18936970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs34487008	chr4:18936970-18936971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560266687	chr4:18936977-18936978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527894751	chr4:18937018-18937019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558742799	chr4:18937065-18937066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546273746	chr4:18937111-18937112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572270344	chr4:18937130-18937131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571037121	chr4:18937175-18937176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115049019	chr4:18937235-18937236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550589222	chr4:18937258-18937259	Enhancers Weak transcription	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:318 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:18932400-18937400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:18934600-18937200	Weak transcription	Fetal Kidney	kidney
3	chr4:18935400-18936200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:18936000-18937200	Weak transcription	Fetal Heart	heart
5	chr4:18936200-18936400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:18936200-18937800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr4:18936400-18937200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr4:18937200-18937800	Enhancers	H9 Cell Line	embryonic stem cell
9	chr4:18937200-18937800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr4:18937200-18937800	Enhancers	Fetal Kidney	kidney
11	chr4:18937200-18938000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:18937200-18938000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr4:18937200-18938000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr4:18937400-18937600	Enhancers	Fetal Heart	heart
15	chr4:18937400-18937600	Enhancers	Fetal Lung	lung
16	chr4:18937400-18937800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:18937400-18938000	Enhancers	H1 Cell Line	embryonic stem cell
18	chr4:18937400-18938000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:18937400-18938000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:18937400-18938000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:18937400-18938000	Enhancers	Gastric	stomach
22	chr4:18937400-18938400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr4:18937600-18938000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr4:18937600-18940400	Weak transcription	Fetal Lung	lung
25	chr4:18938000-18939000	Weak transcription	Gastric	stomach
26	chr4:18938000-18939400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr4:18939000-18939600	Enhancers	Gastric	stomach
28	chr4:18939400-18939600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr4:18940400-18940800	Enhancers	Fetal Lung	lung
30	chr4:18940600-18941200	Enhancers	Primary B cells from cord blood	blood
31	chr4:18945800-18946800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr4:18946800-18949200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr4:18949200-18949600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr4:18949600-18951600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr4:18950800-18951200	Enhancers	Fetal Lung	lung
36	chr4:18955600-18955800	Enhancers	Fetal Kidney	kidney
37	chr4:18955800-18959200	Weak transcription	Fetal Kidney	kidney
38	chr4:18958800-18959600	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr4:18959200-18959400	Enhancers	Fetal Kidney	kidney
40	chr4:18959400-18959800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr4:18959400-18959800	Weak transcription	Fetal Kidney	kidney
42	chr4:18959400-18960600	Enhancers	Fetal Lung	lung
43	chr4:18959800-18960200	Enhancers	Fetal Kidney	kidney
44	chr4:18960000-18960400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr4:18962800-18963800	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr4:18962800-18964400	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr4:18963000-18963200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr4:18963000-18963800	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr4:18963000-18964400	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr4:18963000-18964400	Enhancers	HUES64 Cell Line	embryonic stem cell

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