Variant report

Variant	esv3398743
Chromosome Location	chr4:54072895-54074843
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549377642	chr4:54072906-54072907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577375152	chr4:54072933-54072934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4515222	chr4:54072951-54072952	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs140125458	chr4:54073014-54073015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538132570	chr4:54073066-54073067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145119430	chr4:54073101-54073102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544260003	chr4:54073148-54073149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560846631	chr4:54073184-54073185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186710507	chr4:54073196-54073197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546569161	chr4:54073203-54073204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147600429	chr4:54073221-54073222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532213873	chr4:54073232-54073233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12640471	chr4:54073307-54073308	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs142064997	chr4:54073329-54073330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs4529116	chr4:54073365-54073366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537925877	chr4:54073369-54073370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554586958	chr4:54073392-54073393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568102147	chr4:54073393-54073394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534155894	chr4:54073431-54073432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77334063	chr4:54073478-54073479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77506189	chr4:54073493-54073494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577719590	chr4:54073498-54073499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554173084	chr4:54073571-54073572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577437970	chr4:54073626-54073627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377125829	chr4:54073640-54073641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150341843	chr4:54073642-54073643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111241155	chr4:54073652-54073653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368572387	chr4:54073671-54073672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556781280	chr4:54073672-54073673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371547914	chr4:54073675-54073676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs367622903	chr4:54073680-54073681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28715261	chr4:54073683-54073684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28756025	chr4:54073684-54073685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372163106	chr4:54073694-54073695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375151293	chr4:54073697-54073698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs28363782	chr4:54073705-54073706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374159308	chr4:54073715-54073716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368667892	chr4:54073716-54073717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372348484	chr4:54073727-54073728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368479956	chr4:54073735-54073736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377290315	chr4:54073737-54073738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369840213	chr4:54073738-54073739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374360286	chr4:54073741-54073742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545512134	chr4:54073742-54073743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368879500	chr4:54073766-54073767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373358784	chr4:54073768-54073769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372556653	chr4:54073786-54073787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115950313	chr4:54073869-54073870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4529117	chr4:54073905-54073906	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs28661921	chr4:54073953-54073954	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	CNVD
Multiple myeloma	16616336	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
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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian neoplasms	16753589	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21569311	CNVD
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21525872	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	19115005	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164919	CNVD
Gastrointestinal stromal cancer	17527083	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17209131	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54043200-54077000	Weak transcription	Primary T cells from cord blood	blood
2	chr4:54048000-54086000	Weak transcription	GM12878-XiMat	blood
3	chr4:54051000-54073000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr4:54053000-54093000	Weak transcription	Primary B cells from cord blood	blood
5	chr4:54056600-54076400	Weak transcription	Ovary	ovary
6	chr4:54058200-54079800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr4:54063400-54079400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr4:54064400-54078400	Weak transcription	Small Intestine	intestine
9	chr4:54064400-54106600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:54066200-54080000	Weak transcription	Psoas Muscle	Psoas
11	chr4:54066400-54099000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:54069800-54074600	Weak transcription	HepG2	liver
13	chr4:54070000-54074800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr4:54072200-54073000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:54072600-54085000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:54072800-54089000	Weak transcription	NHDF-Ad	bronchial
17	chr4:54073000-54073400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:54073400-54077000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:54073400-54079200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr4:54074400-54075600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr4:54074600-54075400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:54074600-54075600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr4:54074600-54075600	Enhancers	HepG2	liver
24	chr4:54074800-54075400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr4:54074800-54075600	Enhancers	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links