Variant report

Variant	esv3323925
Chromosome Location	chr4:187161256-187161719
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71882827	chr4:187161268-187161269	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551251712	chr4:187161283-187161284	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567802374	chr4:187161289-187161290	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536835822	chr4:187161307-187161308	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114652910	chr4:187161317-187161318	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552895403	chr4:187161321-187161322	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372119415	chr4:187161322-187161323	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573396902	chr4:187161345-187161346	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113247661	chr4:187161360-187161361	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187895234	chr4:187161366-187161367	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566327233	chr4:187161369-187161370	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113951356	chr4:187161377-187161378	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559002577	chr4:187161386-187161387	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs72171168	chr4:187161455-187161456	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114655596	chr4:187161457-187161458	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150617379	chr4:187161478-187161479	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35984397	chr4:187161501-187161502	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs28380417	chr4:187161506-187161507	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs542789106	chr4:187161515-187161516	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs193008172	chr4:187161539-187161540	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528179778	chr4:187161546-187161547	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547984591	chr4:187161571-187161572	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184303694	chr4:187161573-187161574	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs75194466	chr4:187161578-187161579	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375648167	chr4:187161582-187161583	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187229789	chr4:187161593-187161594	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535967855	chr4:187161631-187161632	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372477873	chr4:187161639-187161640	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139687572	chr4:187161663-187161664	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554695743	chr4:187161702-187161703	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575819533	chr4:187161716-187161717	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Prostate cancer	22341455	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187131800-187181600	Weak transcription	Brain Hippocampus Middle	brain
2	chr4:187146400-187172800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr4:187147800-187162000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:187148000-187161600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:187148000-187173000	Weak transcription	Psoas Muscle	Psoas
6	chr4:187148200-187179200	Weak transcription	Lung	lung
7	chr4:187148400-187162000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:187148400-187164600	Weak transcription	Right Ventricle	heart
9	chr4:187148400-187172600	Weak transcription	Brain Anterior Caudate	brain
10	chr4:187148400-187179400	Weak transcription	Pancreas	Pancrea
11	chr4:187149800-187181600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr4:187149800-187186800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr4:187150000-187162000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr4:187150200-187187200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr4:187151000-187187200	Weak transcription	Colon Smooth Muscle	Colon
16	chr4:187151800-187173000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr4:187152000-187179400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr4:187152200-187169800	Weak transcription	Brain Substantia Nigra	brain
19	chr4:187154000-187182000	Weak transcription	Primary T cells from cord blood	blood
20	chr4:187156800-187179200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr4:187158000-187173000	Weak transcription	Left Ventricle	heart
22	chr4:187158400-187181400	Weak transcription	Fetal Intestine Large	intestine
23	chr4:187159600-187162000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr4:187159800-187161800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr4:187159800-187161800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr4:187159800-187164800	Weak transcription	Fetal Intestine Small	intestine
27	chr4:187159800-187172600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr4:187161000-187165200	Strong transcription	Liver	Liver
29	chr4:187161200-187162600	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr4:187161600-187162600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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