Variant report

Variant	esv3400302
Chromosome Location	chr4:69008235-69034717
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:69012983..69014956-chr4:69018521..69020057,2	K562	blood:
2	chr4:69014952..69016678-chr4:69016935..69018473,2	K562	blood:
3	chr4:69012983..69014956-chr4:69018521..69020057,2	K562	blood:
4	chr4:69014952..69016678-chr4:69016935..69018473,2	K562	blood:
5	chr4:68994438..68997123-chr4:69006589..69008746,2	K562	blood:

Variant related genes	Relation type
ENSG00000198092	chromatin interactions

Extended variants
information (count: 598 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:598 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144507201	chr4:69008319-69008320	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs554638181	chr4:69008333-69008334	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs180945853	chr4:69008360-69008361	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs537024839	chr4:69008388-69008389	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs556971501	chr4:69008401-69008402	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs146623121	chr4:69008415-69008416	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs546040545	chr4:69008422-69008423	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs372737683	chr4:69008515-69008516	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs186296007	chr4:69008641-69008642	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs572991657	chr4:69008654-69008655	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs147389268	chr4:69008666-69008667	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs561031370	chr4:69008675-69008676	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs149816398	chr4:69008706-69008707	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs549778265	chr4:69008739-69008740	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs6819568	chr4:69013001-69013002	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs371011824	chr4:69013040-69013041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189990688	chr4:69013053-69013054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182559931	chr4:69013123-69013124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573895807	chr4:69013157-69013158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75200006	chr4:69013266-69013267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559718206	chr4:69013377-69013378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532275142	chr4:69013384-69013385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376983497	chr4:69013420-69013421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576017057	chr4:69013455-69013456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146921617	chr4:69013472-69013473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187245857	chr4:69013479-69013480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191959845	chr4:69013493-69013494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114849888	chr4:69013522-69013523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11131738	chr4:69013526-69013527	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs561107416	chr4:69013540-69013541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529898202	chr4:69013542-69013543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549525471	chr4:69013563-69013564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569393462	chr4:69013572-69013573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531794271	chr4:69013616-69013617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373826320	chr4:69013634-69013635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551490708	chr4:69013647-69013648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571567828	chr4:69013660-69013661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183458668	chr4:69013683-69013684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534273340	chr4:69013698-69013699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554037068	chr4:69013706-69013707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552458923	chr4:69013734-69013735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568944762	chr4:69013794-69013795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374939359	chr4:69013810-69013811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188811491	chr4:69013824-69013825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556311892	chr4:69013861-69013862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576073683	chr4:69013863-69013864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs137926566	chr4:69013869-69013870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558271635	chr4:69013884-69013885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs193092721	chr4:69013888-69013889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs12641203	chr4:69013890-69013891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
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
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	20369283	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Graft versus host disease	20877625	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Osteoporosis	20877625	CNVD
Osteoporosis	19737800	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioblastoma multiforme	21138945	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Oral cancer	21386901	CNVD
Alcoholism	21790672	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
early-passage human iPS cells	21368824	CNVD
small cell lung cancer	20016488	CNVD
Recurrent pregnancy loss	19789632	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
Autism	19287141	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69013000-69020400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:69013800-69015200	Enhancers	Esophagus	oesophagus
3	chr4:69013800-69015200	Enhancers	Placenta Amnion	Placenta Amnion
4	chr4:69014000-69015600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr4:69014200-69015600	Enhancers	Ovary	ovary
6	chr4:69014200-69016200	Enhancers	K562	blood
7	chr4:69014800-69028000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:69015000-69015400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:69015200-69017600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr4:69015400-69015800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:69017200-69018800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr4:69017200-69019000	Enhancers	NHEK	skin
13	chr4:69017400-69018800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:69017600-69017800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:69017600-69018200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:69017600-69018800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:69017600-69018800	Enhancers	Placenta Amnion	Placenta Amnion
18	chr4:69017600-69018800	Enhancers	HMEC	breast
19	chr4:69017800-69018000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:69018000-69018400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr4:69018000-69018400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:69018400-69018600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:69018400-69018600	Enhancers	K562	blood
24	chr4:69018600-69019200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:69018800-69020400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr4:69020400-69020600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:69020600-69020800	Enhancers	Placenta Amnion	Placenta Amnion
28	chr4:69025400-69026200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr4:69025800-69026600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr4:69027800-69028200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr4:69028000-69028200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:69028000-69028200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr4:69033200-69034200	Enhancers	Brain Germinal Matrix	brain

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