Variant report

Variant	esv3391179
Chromosome Location	chr4:187136414-187136620
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	chr4:187128886..187131532-chr4:187133645..187136600,2	K562	blood:

Variant related genes	Relation type
ENSG00000164344	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532141841	chr4:187136415-187136416	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs4862667	chr4:187136416-187136417	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs4862668	chr4:187136443-187136444	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs539455157	chr4:187136454-187136455	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs559273362	chr4:187136463-187136464	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs370987330	chr4:187136503-187136504	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs10533093	chr4:187136512-187136513	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs113042142	chr4:187136515-187136516	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs113435394	chr4:187136519-187136520	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs200806549	chr4:187136531-187136532	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs62348768	chr4:187136535-187136536	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs62348769	chr4:187136553-187136554	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs371609059	chr4:187136554-187136555	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs113639595	chr4:187136559-187136560	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs62348770	chr4:187136569-187136570	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs367562491	chr4:187136570-187136571	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs11267771	chr4:187136573-187136574	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs368782274	chr4:187136598-187136599	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs200963372	chr4:187136603-187136604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78778893	chr4:187136620-187136621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
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
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	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
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187117600-187140600	Weak transcription	Aorta	Aorta
2	chr4:187125800-187149200	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:187130400-187144200	Weak transcription	Esophagus	oesophagus
4	chr4:187130600-187149400	Weak transcription	Gastric	stomach
5	chr4:187130800-187137600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:187130800-187145000	Weak transcription	Pancreas	Pancrea
7	chr4:187131000-187138200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr4:187131000-187139800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:187131200-187137800	Weak transcription	Fetal Lung	lung
10	chr4:187131400-187139000	Weak transcription	Small Intestine	intestine
11	chr4:187131600-187138000	Weak transcription	Brain Anterior Caudate	brain
12	chr4:187131600-187146000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr4:187131600-187148400	Weak transcription	Fetal Kidney	kidney
14	chr4:187131800-187136600	Weak transcription	Fetal Brain Female	brain
15	chr4:187131800-187137600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr4:187131800-187137800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:187131800-187137800	Weak transcription	Adipose Nuclei	Adipose
18	chr4:187131800-187138000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:187131800-187138400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr4:187131800-187138800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr4:187131800-187149000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:187131800-187159000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr4:187131800-187181600	Weak transcription	Brain Hippocampus Middle	brain
24	chr4:187132400-187137200	Weak transcription	Brain Substantia Nigra	brain
25	chr4:187132600-187139200	Weak transcription	Fetal Intestine Small	intestine
26	chr4:187132800-187137200	Weak transcription	Ovary	ovary
27	chr4:187134000-187138400	Weak transcription	Fetal Intestine Large	intestine
28	chr4:187134000-187139800	Weak transcription	Liver	Liver
29	chr4:187134000-187149000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr4:187134400-187138800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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