Variant report

Variant	esv3348039
Chromosome Location	chr4:3612654-3617552
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:3614687..3616600-chr4:3620839..3622694,2	MCF-7	breast:
2	chr4:3614332..3616102-chr4:3632475..3634431,2	MCF-7	breast:

Extended variants
information (count: 343 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:343 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532696763	chr4:3612689-3612690	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs372590791	chr4:3612711-3612712	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs552703068	chr4:3612725-3612726	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs571358170	chr4:3612726-3612727	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs375941918	chr4:3612729-3612730	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs369759688	chr4:3612732-3612733	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs537210191	chr4:3612738-3612739	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs372271010	chr4:3612748-3612749	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs556990575	chr4:3612763-3612764	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs62274305	chr4:3612772-3612773	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs62274306	chr4:3612783-3612784	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs548645823	chr4:3612813-3612814	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62274307	chr4:3612822-3612823	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552583090	chr4:3612834-3612835	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572494715	chr4:3612861-3612862	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544749882	chr4:3612873-3612874	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558181122	chr4:3612881-3612882	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62274308	chr4:3612899-3612900	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34628215	chr4:3612915-3612916	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs386670745	chr4:3612921-3612922	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78103759	chr4:3612922-3612923	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561305657	chr4:3612995-3612996	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530461807	chr4:3612996-3612997	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540920609	chr4:3613012-3613013	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560520353	chr4:3613014-3613015	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532502988	chr4:3613050-3613051	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4998014	chr4:3613051-3613052	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4998013	chr4:3613061-3613062	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75440398	chr4:3613084-3613085	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552715300	chr4:3613085-3613086	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569300491	chr4:3613098-3613099	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530639836	chr4:3613119-3613120	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550780116	chr4:3613126-3613127	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567333413	chr4:3613134-3613135	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536181017	chr4:3613155-3613156	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1318350	chr4:3613164-3613165	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4999446	chr4:3613192-3613193	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566132640	chr4:3613196-3613197	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538204112	chr4:3613199-3613200	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4999445	chr4:3613211-3613212	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs537544496	chr4:3613213-3613214	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs182511202	chr4:3613216-3613217	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs4999444	chr4:3613225-3613226	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs558381563	chr4:3613229-3613230	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs4999443	chr4:3613233-3613234	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs4999442	chr4:3613249-3613250	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs575329169	chr4:3613257-3613258	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs4999441	chr4:3613267-3613268	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs114634689	chr4:3613270-3613271	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs4999440	chr4:3613277-3613278	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	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
Urothelial carcinoma	21177765	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
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3610000-3614600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr4:3611400-3612800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:3611600-3614400	Weak transcription	Fetal Muscle Leg	muscle
4	chr4:3612600-3613200	ZNF genes & repeats	Spleen	Spleen
5	chr4:3612600-3615000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr4:3612800-3613200	ZNF genes & repeats	Pancreas	Pancrea
7	chr4:3612800-3613400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:3612800-3613400	ZNF genes & repeats	Gastric	stomach
9	chr4:3613200-3613400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:3613200-3613800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr4:3613200-3614600	Weak transcription	Pancreas	Pancrea
12	chr4:3613200-3614800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr4:3613200-3615600	Weak transcription	Adipose Nuclei	Adipose
14	chr4:3613400-3613600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:3613400-3614600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:3613400-3614600	Weak transcription	Gastric	stomach
17	chr4:3613600-3614400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:3614400-3614600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:3614400-3614600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr4:3614400-3614600	Weak transcription	Spleen	Spleen
21	chr4:3614400-3615000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:3614400-3616400	Enhancers	Fetal Muscle Leg	muscle
23	chr4:3614600-3614800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr4:3614600-3614800	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr4:3614600-3614800	Enhancers	Fetal Brain Female	brain
26	chr4:3614600-3615000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:3614600-3615000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:3614600-3615000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
29	chr4:3614600-3615000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr4:3614600-3615000	ZNF genes & repeats	Fetal Brain Male	brain
31	chr4:3614600-3615000	ZNF genes & repeats	Fetal Kidney	kidney
32	chr4:3614600-3615600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr4:3614600-3616000	Enhancers	Gastric	stomach
34	chr4:3614600-3616400	Enhancers	Spleen	Spleen
35	chr4:3614600-3616400	Enhancers	HSMMtube	muscle
36	chr4:3614600-3616600	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr4:3614600-3616600	Enhancers	Pancreas	Pancrea
38	chr4:3614800-3615000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
39	chr4:3614800-3615400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr4:3614800-3615800	Weak transcription	Fetal Brain Female	brain
41	chr4:3614800-3616200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
42	chr4:3614800-3616400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr4:3614800-3616400	Enhancers	Ovary	ovary
44	chr4:3614800-3616600	Enhancers	HSMM	muscle
45	chr4:3615000-3615600	Weak transcription	Fetal Brain Male	brain
46	chr4:3615000-3616000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr4:3615000-3616000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr4:3615000-3617200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr4:3615000-3617600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:3615400-3616800	Enhancers	Cortex derived primary cultured neurospheres	brain

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