Variant report

Variant	nsv594979
Chromosome Location	chr4:104194329-104242990
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:104213569..104215673-chr4:104223134..104225892,2	MCF-7	breast:
2	chr4:104181685..104183408-chr4:104209717..104212156,2	K562	blood:
3	chr4:104213569..104215673-chr4:104223134..104225892,2	MCF-7	breast:

Extended variants
information (count: 1449 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1449 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7656832	chr4:104194329-104194330	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs548064395	chr4:104194340-104194341	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112254765	chr4:104194365-104194366	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187719242	chr4:104194380-104194381	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551918867	chr4:104194382-104194383	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2169510	chr4:104194384-104194385	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs1295590	chr4:104194423-104194424	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537498036	chr4:104194432-104194433	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549797447	chr4:104194463-104194464	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567955669	chr4:104194490-104194491	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192749958	chr4:104194496-104194497	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555283505	chr4:104194526-104194527	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147791727	chr4:104194554-104194555	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141199592	chr4:104194559-104194560	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559144814	chr4:104194564-104194565	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577313292	chr4:104194568-104194569	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183285773	chr4:104194569-104194570	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79830673	chr4:104194570-104194571	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574719962	chr4:104194577-104194578	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34099969	chr4:104194578-104194579	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369757441	chr4:104194594-104194595	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541793647	chr4:104194597-104194598	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560031926	chr4:104194604-104194605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11939011	chr4:104194642-104194643	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs563172106	chr4:104194662-104194663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545596903	chr4:104194699-104194700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564124504	chr4:104194751-104194752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs117318145	chr4:104194759-104194760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187910092	chr4:104194761-104194762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568078159	chr4:104194762-104194763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528920891	chr4:104194780-104194781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191994239	chr4:104194821-104194822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567171671	chr4:104194839-104194840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370175255	chr4:104194844-104194845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530519094	chr4:104194856-104194857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs202220269	chr4:104194887-104194888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2169509	chr4:104194895-104194896	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs559233478	chr4:104194896-104194897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570939963	chr4:104194947-104194948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538364370	chr4:104194955-104194956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368075167	chr4:104194972-104194973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556403514	chr4:104195010-104195011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574842222	chr4:104195024-104195025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370433868	chr4:104195087-104195088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553704336	chr4:104195123-104195124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572057602	chr4:104195159-104195160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369243249	chr4:104195164-104195165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564342722	chr4:104195169-104195170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531385524	chr4:104195174-104195175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373096945	chr4:104195194-104195195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Chronic lymphocytic leukemia	21215367	CNVD

Chromatin state (count:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:104192800-104200800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:104193000-104194400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr4:104193000-104194400	Enhancers	HMEC	breast
4	chr4:104193000-104194600	Enhancers	Gastric	stomach
5	chr4:104194200-104194600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
6	chr4:104194400-104194600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
7	chr4:104194600-104202600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr4:104197800-104198200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:104197800-104198200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:104198000-104198200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr4:104209400-104229400	Weak transcription	Right Atrium	heart
12	chr4:104210200-104210600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr4:104213400-104214400	Enhancers	HMEC	breast
14	chr4:104213600-104213800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:104214200-104214600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:104214600-104214800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr4:104214800-104223800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr4:104215000-104216800	Enhancers	HepG2	liver
19	chr4:104215400-104216000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:104215800-104216800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:104216000-104220200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:104220200-104220400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:104220400-104224000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:104223800-104224800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr4:104223800-104224800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr4:104223800-104224800	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr4:104223800-104225000	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr4:104224000-104224400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr4:104224000-104224600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:104224000-104224600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:104224000-104224800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr4:104224000-104224800	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr4:104224000-104224800	Enhancers	HMEC	breast
34	chr4:104224000-104225000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr4:104224200-104224400	Enhancers	H9 Cell Line	embryonic stem cell
36	chr4:104224200-104224400	Enhancers	HepG2	liver
37	chr4:104224200-104224800	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr4:104224400-104226600	Weak transcription	HepG2	liver
39	chr4:104224400-104227800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr4:104224600-104227200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr4:104224600-104227600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr4:104224800-104226400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr4:104224800-104226600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr4:104224800-104227600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr4:104224800-104227600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr4:104224800-104227800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr4:104224800-104228000	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr4:104225000-104227400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr4:104225000-104232800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr4:104225800-104228800	Enhancers	Placenta	Placenta

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