Variant report

Variant	nsv4984
Chromosome Location	chr5:124377028-124401500
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:124373569..124376371-chr5:124376521..124378624,2	MCF-7	breast:
2	chr5:124385684..124387313-chr5:124391971..124393955,2	MCF-7	breast:
3	chr5:124385684..124387313-chr5:124391971..124393955,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-43D2.2.1-12	chr5:124377850-124377932	NR_109882
2	lnc-RP11-43D2.2.1-12	chr5:124377850-124377932	ENSG00000250411

Extended variants
information (count: 1084 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1084 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574734408	chr5:124377030-124377031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138782420	chr5:124377064-124377065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542557929	chr5:124377084-124377085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371016830	chr5:124377112-124377113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115718312	chr5:124377127-124377128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576411538	chr5:124377137-124377138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs71223050	chr5:124377152-124377153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113102438	chr5:124377170-124377171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527897833	chr5:124377182-124377183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546384903	chr5:124377194-124377195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564192272	chr5:124377201-124377202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116739745	chr5:124377262-124377263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142803830	chr5:124377287-124377288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376444506	chr5:124377336-124377337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568101383	chr5:124377361-124377362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13169162	chr5:124377365-124377366	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs189941964	chr5:124377377-124377378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562294721	chr5:124377400-124377401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182936710	chr5:124377410-124377411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73308751	chr5:124377427-124377428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536032911	chr5:124377433-124377434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569489270	chr5:124377435-124377436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537981137	chr5:124377448-124377449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556238139	chr5:124377548-124377549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144563318	chr5:124377569-124377570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569861845	chr5:124377644-124377645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs57154044	chr5:124377695-124377696	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs148425433	chr5:124377706-124377707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569686510	chr5:124377724-124377725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368435756	chr5:124377743-124377744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538761583	chr5:124377749-124377750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs60700802	chr5:124377770-124377771	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs576700553	chr5:124377781-124377782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543588802	chr5:124377793-124377794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565665052	chr5:124377814-124377815	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs58265751	chr5:124377841-124377842	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs528891176	chr5:124377845-124377846	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs547041455	chr5:124377849-124377850	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs559618534	chr5:124377910-124377911	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
40	rs552382812	chr5:124377954-124377955	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs371560101	chr5:124377955-124377956	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs533102664	chr5:124377969-124377970	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs7443643	chr5:124378005-124378006	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs78044696	chr5:124378029-124378030	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs554844829	chr5:124378121-124378122	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs201241645	chr5:124378125-124378126	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs569563726	chr5:124378160-124378161	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs536805441	chr5:124378233-124378234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187274148	chr5:124378275-124378276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568430551	chr5:124378348-124378349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	16397240	CNVD
Parathyroid adenoma	22454399	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:486 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124363400-124377600	Weak transcription	Fetal Kidney	kidney
2	chr5:124365400-124379400	Weak transcription	Pancreas	Pancrea
3	chr5:124370600-124377400	Weak transcription	Stomach Mucosa	stomach
4	chr5:124371400-124377200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:124371600-124379600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr5:124374400-124379200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:124375000-124377400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr5:124375000-124379600	Weak transcription	Fetal Thymus	thymus
9	chr5:124376400-124378800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr5:124376600-124377800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr5:124376600-124378000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:124376600-124378400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr5:124376600-124378800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr5:124376600-124379000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr5:124376600-124382800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr5:124376800-124377600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr5:124376800-124378000	Enhancers	Dnd41	blood
18	chr5:124376800-124378600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr5:124377200-124378200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:124377200-124378600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:124377200-124379000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:124377200-124380600	Enhancers	Adipose Nuclei	Adipose
23	chr5:124377200-124380600	Enhancers	Fetal Lung	lung
24	chr5:124377400-124378000	Enhancers	H1 Cell Line	embryonic stem cell
25	chr5:124377400-124378000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:124377400-124378200	Enhancers	Stomach Mucosa	stomach
27	chr5:124377400-124378600	Enhancers	Fetal Heart	heart
28	chr5:124377400-124379000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr5:124377400-124379400	Enhancers	A549	lung
30	chr5:124377400-124380600	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr5:124377400-124381000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:124377400-124381200	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr5:124377600-124377800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr5:124377600-124377800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr5:124377600-124377800	Enhancers	Fetal Brain Female	brain
36	chr5:124377600-124377800	Enhancers	Right Atrium	heart
37	chr5:124377600-124378000	Weak transcription	Left Ventricle	heart
38	chr5:124377600-124378200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr5:124377600-124378200	Enhancers	Fetal Muscle Leg	muscle
40	chr5:124377600-124378400	Enhancers	H9 Cell Line	embryonic stem cell
41	chr5:124377600-124378400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:124377600-124378400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr5:124377600-124378400	Enhancers	Colon Smooth Muscle	Colon
44	chr5:124377600-124378600	Enhancers	Fetal Stomach	stomach
45	chr5:124377600-124378600	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr5:124377600-124380000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:124377600-124380000	Enhancers	NH-A	brain
48	chr5:124377600-124380400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:124377600-124380800	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr5:124377600-124381200	Enhancers	Fetal Kidney	kidney

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