Variant report

Variant	esv3402377
Chromosome Location	chr4:3834004-3836502
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:3831503..3833114-chr4:3834560..3837370,2	K562	blood:
2	chr4:3834212..3836455-chr4:3850865..3852566,2	MCF-7	breast:
3	chr4:3834416..3837060-chr4:3839429..3841661,2	K562	blood:
4	chr4:3783465..3785212-chr4:3832518..3834450,2	MCF-7	breast:
5	chr4:3798360..3800087-chr4:3831985..3834740,2	MCF-7	breast:
6	chr4:3836235..3839004-chr4:3842229..3844534,2	K562	blood:
7	chr4:3818392..3820199-chr4:3832568..3834431,2	MCF-7	breast:

Extended variants
information (count: 168 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:168 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34245271	chr4:3834032-3834033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574037823	chr4:3834036-3834037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149529972	chr4:3834061-3834062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs28393911	chr4:3834086-3834087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573133624	chr4:3834101-3834102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112738034	chr4:3834128-3834129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374491146	chr4:3834130-3834131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs66880282	chr4:3834141-3834142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144110875	chr4:3834142-3834143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189205913	chr4:3834146-3834147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533193644	chr4:3834165-3834166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529131247	chr4:3834174-3834175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs28549791	chr4:3834179-3834180	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs565804846	chr4:3834180-3834181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113214625	chr4:3834199-3834200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115372216	chr4:3834200-3834201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564658258	chr4:3834203-3834204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115879529	chr4:3834204-3834205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537358607	chr4:3834206-3834207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557273112	chr4:3834207-3834208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567756994	chr4:3834221-3834222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142721531	chr4:3834223-3834224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs114533139	chr4:3834224-3834225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573307906	chr4:3834228-3834229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545374321	chr4:3834242-3834243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181529960	chr4:3834247-3834248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113748942	chr4:3834264-3834265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs28578779	chr4:3834268-3834269	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs373802304	chr4:3834303-3834304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs60799592	chr4:3834313-3834314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs146060504	chr4:3834336-3834337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551258414	chr4:3834353-3834354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529059366	chr4:3834365-3834366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140075593	chr4:3834399-3834400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559157768	chr4:3834432-3834433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528177347	chr4:3834436-3834437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550922930	chr4:3834460-3834461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs79194748	chr4:3834461-3834462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570902437	chr4:3834509-3834510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186528478	chr4:3834511-3834512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs73082783	chr4:3834512-3834513	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs542505923	chr4:3834532-3834533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs35076564	chr4:3834553-3834554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371040609	chr4:3834594-3834595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191388404	chr4:3834620-3834621	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148979725	chr4:3834629-3834630	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182814648	chr4:3834634-3834635	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs186105946	chr4:3834647-3834648	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189615396	chr4:3834662-3834663	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs28665732	chr4:3834668-3834669	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Lung cancer	18438408	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3829600-3835000	Weak transcription	Brain Anterior Caudate	brain
2	chr4:3830000-3839400	Weak transcription	Right Atrium	heart
3	chr4:3832600-3836000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:3832800-3837200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr4:3832800-3837400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr4:3833000-3835600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:3833000-3835800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:3833200-3836400	Weak transcription	Gastric	stomach
9	chr4:3833400-3835400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr4:3833400-3835600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:3833400-3836200	Weak transcription	Brain Germinal Matrix	brain
12	chr4:3833400-3837800	Enhancers	HepG2	liver
13	chr4:3833600-3836000	Weak transcription	Spleen	Spleen
14	chr4:3833800-3835600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr4:3833800-3835600	Weak transcription	Pancreas	Pancrea
16	chr4:3834000-3834400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:3834400-3837400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:3834600-3834800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:3835000-3836600	Enhancers	Brain Anterior Caudate	brain
20	chr4:3835200-3838800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr4:3835400-3836200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
22	chr4:3835600-3836200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr4:3835600-3836200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
24	chr4:3835600-3836400	Enhancers	Pancreas	Pancrea
25	chr4:3835600-3838000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr4:3835600-3838200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:3835600-3838800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:3835800-3838800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:3836000-3836200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr4:3836000-3837200	Enhancers	Spleen	Spleen
31	chr4:3836000-3838200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:3836000-3838400	Bivalent Enhancer	Fetal Muscle Leg	muscle
33	chr4:3836200-3836400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
34	chr4:3836200-3836400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:3836200-3836400	Bivalent Enhancer	Placenta	Placenta
36	chr4:3836200-3836400	Bivalent Enhancer	Fetal Stomach	stomach
37	chr4:3836200-3836600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr4:3836200-3836800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr4:3836200-3837200	Enhancers	Brain Germinal Matrix	brain
40	chr4:3836200-3837800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
41	chr4:3836200-3838400	Enhancers	H1 Cell Line	embryonic stem cell
42	chr4:3836400-3836600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr4:3836400-3836600	Enhancers	Gastric	stomach
44	chr4:3836400-3837400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
45	chr4:3836400-3837600	Weak transcription	Pancreas	Pancrea

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