Variant report

Variant	esv3467254
Chromosome Location	chr4:93412287-93419637
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	chr4:93384358..93386319-chr4:93419609..93421147,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-9B6.1.1-4	chr4:93417224-93417476	ucscGeneNc_uc010ikw_1

Extended variants
information (count: 242 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:242 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189488856	chr4:93412291-93412292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530467981	chr4:93412292-93412293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550069055	chr4:93412305-93412306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544796838	chr4:93412350-93412351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs36087214	chr4:93412381-93412382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570236153	chr4:93412409-93412410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566244120	chr4:93412421-93412422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552721455	chr4:93412439-93412440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566213932	chr4:93412489-93412490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563346003	chr4:93412504-93412505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140326448	chr4:93412514-93412515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142689040	chr4:93412532-93412533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs17019374	chr4:93412547-93412548	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs193058071	chr4:93412627-93412628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556056055	chr4:93412628-93412629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576200570	chr4:93412670-93412671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185238575	chr4:93412679-93412680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs62310672	chr4:93412746-93412747	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs558877474	chr4:93412765-93412766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571854784	chr4:93412779-93412780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540612136	chr4:93412801-93412802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560562025	chr4:93412816-93412817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144345270	chr4:93412838-93412839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375589002	chr4:93412869-93412870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530285118	chr4:93412935-93412936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs71599243	chr4:93412937-93412938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544120314	chr4:93412949-93412950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs17019377	chr4:93412956-93412957	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs372535815	chr4:93412990-93412991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532723779	chr4:93413003-93413004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552832109	chr4:93413016-93413017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200667557	chr4:93413079-93413080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139764355	chr4:93413106-93413107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs148576069	chr4:93413173-93413174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145271671	chr4:93413182-93413183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538012562	chr4:93413198-93413199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190367848	chr4:93413231-93413232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568463795	chr4:93413234-93413235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536122628	chr4:93413257-93413258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530960315	chr4:93413313-93413314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554473708	chr4:93413316-93413317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556404937	chr4:93413343-93413344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181193987	chr4:93413485-93413486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs79767365	chr4:93413492-93413493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145004414	chr4:93413519-93413520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375564856	chr4:93413572-93413573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558369084	chr4:93413595-93413596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571770095	chr4:93413602-93413603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540732073	chr4:93413682-93413683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554242813	chr4:93413694-93413695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Williams Syndrome	20824207	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:93406800-93412800	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr4:93409800-93421600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:93410000-93412400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:93410200-93413800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr4:93410200-93416400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr4:93410200-93418000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr4:93410200-93421400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr4:93410200-93421600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr4:93411600-93412600	Enhancers	Fetal Lung	lung
10	chr4:93411600-93413800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr4:93412400-93412600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:93412800-93416400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr4:93413800-93414600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr4:93413800-93416400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr4:93414000-93414800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr4:93414600-93421800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr4:93414800-93434400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:93416400-93416600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr4:93416400-93417600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr4:93416400-93419000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr4:93416600-93417000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr4:93417000-93417800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr4:93417600-93420800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr4:93417800-93418200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr4:93418000-93419400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr4:93418200-93418400	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr4:93418400-93421600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr4:93419000-93421000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr4:93419400-93421600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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