Variant report

Variant	esv1793223
Chromosome Location	chr4:90876066-90880889
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 173 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:173 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187864950	chr4:90876114-90876115	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191221363	chr4:90876116-90876117	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182472734	chr4:90876227-90876228	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188392410	chr4:90876228-90876229	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1479427	chr4:90876239-90876240	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs534620155	chr4:90876246-90876247	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548519504	chr4:90876255-90876256	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561012583	chr4:90876275-90876276	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75238868	chr4:90876279-90876280	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537089809	chr4:90876322-90876323	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557021887	chr4:90876327-90876328	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576951865	chr4:90876379-90876380	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539617296	chr4:90876385-90876386	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs76995241	chr4:90876393-90876394	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557904297	chr4:90876397-90876398	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542153778	chr4:90876435-90876436	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562444361	chr4:90876446-90876447	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192571608	chr4:90876486-90876487	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112232703	chr4:90876516-90876517	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563341681	chr4:90876550-90876551	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532258441	chr4:90876556-90876557	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150927831	chr4:90876564-90876565	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200841266	chr4:90876593-90876594	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566433198	chr4:90876609-90876610	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184412009	chr4:90876629-90876630	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140746105	chr4:90876663-90876664	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187212726	chr4:90876669-90876670	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537028440	chr4:90876670-90876671	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376619139	chr4:90876679-90876680	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs62312665	chr4:90876732-90876733	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs570578425	chr4:90876773-90876774	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539555843	chr4:90876805-90876806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536410189	chr4:90876820-90876821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375805219	chr4:90876828-90876829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs920805	chr4:90876849-90876850	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs536080616	chr4:90876917-90876918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576030821	chr4:90876919-90876920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576029729	chr4:90876932-90876933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543405994	chr4:90876933-90876934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557003637	chr4:90876951-90876952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576964314	chr4:90876982-90876983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545579631	chr4:90877026-90877027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373409150	chr4:90877037-90877038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184841692	chr4:90877045-90877046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528260535	chr4:90877079-90877080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs78276746	chr4:90877099-90877100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190303811	chr4:90877110-90877111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564482587	chr4:90877180-90877181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543485802	chr4:90877302-90877303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192785782	chr4:90877318-90877319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	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
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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Parkinson disease	17953491	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90856800-90878200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:90872400-90876800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:90872400-90876800	Strong transcription	HUVEC	blood vessel
4	chr4:90872800-90878600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:90873800-90876200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr4:90873800-90876200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:90873800-90878200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr4:90874000-90877800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr4:90874000-90878200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr4:90874000-90878400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr4:90874000-90878400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr4:90874200-90876400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr4:90874200-90878200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr4:90874600-90876200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:90875200-90876400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:90875400-90878200	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr4:90876200-90876400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:90876200-90876600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr4:90876200-90876800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:90876400-90876600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:90876400-90876600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr4:90876400-90876600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:90876400-90876800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr4:90876600-90876800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr4:90876600-90877800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr4:90876600-90878200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr4:90876600-90878200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr4:90876800-90877800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:90876800-90878200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr4:90876800-90878400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:90876800-90878600	Weak transcription	HUVEC	blood vessel
32	chr4:90876800-90882000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr4:90877800-90878400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr4:90877800-90878600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:90877800-90879200	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr4:90878200-90878400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr4:90878200-90878400	Active TSS	Primary hematopoietic stem cells	blood
38	chr4:90878200-90878800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:90878200-90878800	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr4:90878200-90878800	Enhancers	Fetal Lung	lung
41	chr4:90878200-90879000	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr4:90878200-90879000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr4:90878200-90879200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr4:90878200-90879200	Enhancers	H1 Cell Line	embryonic stem cell
45	chr4:90878200-90879200	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr4:90878200-90879400	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr4:90878400-90878600	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr4:90878400-90878800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr4:90878400-90878800	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr4:90878400-90878800	Enhancers	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links