Variant report

Variant	nsv1004432
Chromosome Location	chr4:62408333-62444506
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1104 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1104 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551539211	chr4:62408553-62408554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566860424	chr4:62408580-62408581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527636462	chr4:62408607-62408608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1565902	chr4:62408620-62408621	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs555119224	chr4:62408657-62408658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183843184	chr4:62408728-62408729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537406516	chr4:62408729-62408730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556243563	chr4:62408736-62408737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577642288	chr4:62408798-62408799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545257297	chr4:62408838-62408839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34260528	chr4:62408851-62408852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111591124	chr4:62408852-62408853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10030203	chr4:62408853-62408854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199925148	chr4:62408860-62408861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1565903	chr4:62408867-62408868	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs373828890	chr4:62408868-62408869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192248184	chr4:62408869-62408870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560984596	chr4:62408923-62408924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529304143	chr4:62409001-62409002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371707097	chr4:62409013-62409014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150823639	chr4:62409060-62409061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563029767	chr4:62409106-62409107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533239105	chr4:62409134-62409135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138256830	chr4:62409142-62409143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184988609	chr4:62409150-62409151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187060048	chr4:62409174-62409175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527835959	chr4:62409176-62409177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374912739	chr4:62409189-62409190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567832920	chr4:62409203-62409204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192213188	chr4:62409215-62409216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558185006	chr4:62409218-62409219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571150631	chr4:62409295-62409296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555869721	chr4:62409305-62409306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs80331135	chr4:62409332-62409333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528726540	chr4:62409347-62409348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370382429	chr4:62409394-62409395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184377240	chr4:62409412-62409413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572278794	chr4:62409448-62409449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537848765	chr4:62409469-62409470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547114022	chr4:62409475-62409476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs79219762	chr4:62409485-62409486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554871433	chr4:62409533-62409534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs7436350	chr4:62409546-62409547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576236477	chr4:62409553-62409554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs115183565	chr4:62409572-62409573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562732245	chr4:62409599-62409600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs6822311	chr4:62409606-62409607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571812669	chr4:62409657-62409658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560176552	chr4:62409683-62409684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189476346	chr4:62409694-62409695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
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	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	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
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	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
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
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	20369283	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:62405400-62408400	Enhancers	Fetal Intestine Large	intestine
2	chr4:62407000-62408400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr4:62407000-62408400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr4:62407000-62409200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr4:62407000-62411000	Weak transcription	Left Ventricle	heart
6	chr4:62407000-62421600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:62407200-62409000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:62407400-62409200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr4:62407600-62411000	Weak transcription	Fetal Heart	heart
10	chr4:62408000-62408600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr4:62408000-62421200	Weak transcription	Fetal Intestine Small	intestine
12	chr4:62408400-62408600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr4:62408600-62409200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr4:62408600-62409800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr4:62409000-62409200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:62409200-62409400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr4:62409200-62409400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr4:62409200-62409600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr4:62409400-62409800	Enhancers	NHEK	skin
20	chr4:62409600-62419200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr4:62409800-62410000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr4:62409800-62415000	Weak transcription	NHEK	skin
23	chr4:62411000-62411400	Enhancers	Left Ventricle	heart
24	chr4:62411000-62412000	Enhancers	Fetal Stomach	stomach
25	chr4:62411000-62412600	Enhancers	Fetal Heart	heart
26	chr4:62411800-62412400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:62412600-62416200	Weak transcription	Fetal Heart	heart
28	chr4:62415000-62415200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:62415000-62415400	Enhancers	NHEK	skin
30	chr4:62415200-62421600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:62416200-62417000	Enhancers	Fetal Heart	heart
32	chr4:62416600-62416800	Enhancers	Small Intestine	intestine
33	chr4:62416800-62421200	Weak transcription	Small Intestine	intestine
34	chr4:62417000-62421000	Weak transcription	Fetal Heart	heart
35	chr4:62417400-62420800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr4:62418800-62419600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr4:62418800-62419600	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr4:62419200-62419600	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr4:62419200-62419800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr4:62419200-62419800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr4:62419200-62419800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:62419200-62424600	Enhancers	Fetal Intestine Large	intestine
43	chr4:62419400-62419600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr4:62419400-62419800	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr4:62419400-62423400	Enhancers	Stomach Mucosa	stomach
46	chr4:62419600-62420400	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr4:62419600-62420600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr4:62419600-62420600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr4:62419600-62425600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr4:62419800-62420600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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