Variant report

Variant	esv2633190
Chromosome Location	chr5:106917311-106918910
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	chr5:106911881..106914239-chr5:106916867..106919606,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FER-14	chr5:106918464-106918927	NONHSAT103113

Extended variants
information (count: 59 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184639480	chr5:106917416-106917417	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs80061065	chr5:106917438-106917439	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs12522954	chr5:106917447-106917448	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs577437869	chr5:106917462-106917463	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs532927561	chr5:106917464-106917465	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs12153493	chr5:106917475-106917476	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs562952867	chr5:106917487-106917488	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs72791845	chr5:106917523-106917524	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs72791847	chr5:106917592-106917593	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs184051478	chr5:106917605-106917606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2005103	chr5:106917636-106917637	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs79575036	chr5:106917640-106917641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548078607	chr5:106917686-106917687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571080770	chr5:106917688-106917689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536012648	chr5:106917702-106917703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555996524	chr5:106917731-106917732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188617412	chr5:106917779-106917780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535150153	chr5:106917797-106917798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555318082	chr5:106917813-106917814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536434987	chr5:106917835-106917836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs367579469	chr5:106917844-106917845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368263302	chr5:106917848-106917849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs6894162	chr5:106917868-106917869	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs202030717	chr5:106917981-106917982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577417820	chr5:106918037-106918038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543561436	chr5:106918067-106918068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562888950	chr5:106918068-106918069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs4957704	chr5:106918112-106918113	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs181691580	chr5:106918139-106918140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186749588	chr5:106918140-106918141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527661986	chr5:106918167-106918168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548115068	chr5:106918207-106918208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs872240	chr5:106918212-106918213	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs533609956	chr5:106918222-106918223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550345260	chr5:106918274-106918275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192476905	chr5:106918303-106918304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs71575448	chr5:106918329-106918330	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs80016961	chr5:106918356-106918357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565358196	chr5:106918370-106918371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181954270	chr5:106918381-106918382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534273179	chr5:106918414-106918415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557638914	chr5:106918416-106918417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541017429	chr5:106918448-106918449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577505066	chr5:106918458-106918459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs371075117	chr5:106918461-106918462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs199600593	chr5:106918464-106918465	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs73198690	chr5:106918631-106918632	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs200042843	chr5:106918646-106918647	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs80197831	chr5:106918699-106918700	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs78281258	chr5:106918701-106918702	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106908800-106917600	Enhancers	A549	lung
2	chr5:106912200-106917600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:106913600-106928800	Weak transcription	Right Ventricle	heart
4	chr5:106913800-106924000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr5:106914000-106924800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:106914200-106924000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr5:106914600-106919200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:106914800-106928200	Weak transcription	Left Ventricle	heart
9	chr5:106915200-106929800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:106915600-106928200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:106916400-106917400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:106916400-106917600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:106916600-106917400	Enhancers	Placenta Amnion	Placenta Amnion
14	chr5:106916600-106917400	Enhancers	Osteobl	bone
15	chr5:106916600-106917600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr5:106916600-106917600	Enhancers	Fetal Lung	lung
17	chr5:106916600-106918200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:106916800-106917400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:106916800-106917400	Enhancers	Brain Angular Gyrus	brain
20	chr5:106916800-106917600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:106916800-106917600	Enhancers	Fetal Kidney	kidney
22	chr5:106916800-106917600	Enhancers	Fetal Muscle Leg	muscle
23	chr5:106916800-106917600	Enhancers	Fetal Stomach	stomach
24	chr5:106916800-106917600	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr5:106916800-106917800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr5:106916800-106918400	Enhancers	Fetal Heart	heart
27	chr5:106917000-106917400	Enhancers	H1 Cell Line	embryonic stem cell
28	chr5:106917000-106917400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr5:106917000-106917400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:106917000-106917400	Enhancers	HSMMtube	muscle
31	chr5:106917000-106917600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:106917000-106917600	Enhancers	HSMM	muscle
33	chr5:106917000-106917800	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr5:106917000-106918000	Enhancers	Adipose Nuclei	Adipose
35	chr5:106917000-106918200	Enhancers	Rectal Smooth Muscle	rectum
36	chr5:106917000-106918200	Enhancers	GM12878-XiMat	blood
37	chr5:106917000-106921400	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr5:106917000-106929200	Weak transcription	HMEC	breast
39	chr5:106917200-106917400	Enhancers	Psoas Muscle	Psoas
40	chr5:106917200-106917600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:106917400-106918400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr5:106917400-106924200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr5:106917400-106928000	Weak transcription	HSMMtube	muscle
44	chr5:106917600-106918200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:106917600-106918400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:106917600-106919200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr5:106917600-106923600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:106917600-106928200	Weak transcription	A549	lung
49	chr5:106917800-106928600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr5:106918200-106919200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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