Variant report

Variant	nsv968979
Chromosome Location	chr5:114662534-114669970
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:114660222..114662494-chr5:114667074..114669644,3	MCF-7	breast:
2	chr5:114669641..114671204-chr5:114679408..114681195,2	K562	blood:
3	chr5:114663750..114666147-chr5:114688735..114691561,2	MCF-7	breast:

Extended variants
information (count: 300 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:300 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200622325	chr5:114662539-114662540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75851437	chr5:114662546-114662547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561199080	chr5:114662554-114662555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529968803	chr5:114662566-114662567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371404171	chr5:114662573-114662574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543716401	chr5:114662582-114662583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185504016	chr5:114662624-114662625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188045521	chr5:114662636-114662637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138225953	chr5:114662641-114662642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13160884	chr5:114662756-114662757	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs535188114	chr5:114662759-114662760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548817375	chr5:114662772-114662773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568714404	chr5:114662781-114662782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554483391	chr5:114662790-114662791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191407542	chr5:114662829-114662830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368282216	chr5:114662833-114662834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7730759	chr5:114662880-114662881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183595489	chr5:114662897-114662898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188312704	chr5:114662925-114662926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149554629	chr5:114662941-114662942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144221187	chr5:114662951-114662952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540797268	chr5:114662952-114662953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554498372	chr5:114662983-114662984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574663836	chr5:114663014-114663015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372067300	chr5:114663031-114663032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540477613	chr5:114663040-114663041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563699951	chr5:114663046-114663047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532502919	chr5:114663068-114663069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546229555	chr5:114663080-114663081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559851934	chr5:114663100-114663101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191660997	chr5:114663103-114663104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548747857	chr5:114663123-114663124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184970081	chr5:114663134-114663135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531231948	chr5:114663143-114663144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189896063	chr5:114663166-114663167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572376721	chr5:114663239-114663240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571131412	chr5:114663243-114663244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139069884	chr5:114663246-114663247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182115838	chr5:114663262-114663263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565413549	chr5:114663268-114663269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143304458	chr5:114663282-114663283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187174697	chr5:114663289-114663290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554742402	chr5:114663292-114663293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574594434	chr5:114663297-114663298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147548237	chr5:114663298-114663299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556937206	chr5:114663323-114663324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529131241	chr5:114663365-114663366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577225993	chr5:114663366-114663367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546192353	chr5:114663482-114663483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140034647	chr5:114663593-114663594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	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
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114654000-114665600	Weak transcription	Right Atrium	heart
2	chr5:114662000-114664000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:114662000-114670400	Weak transcription	Psoas Muscle	Psoas
4	chr5:114663000-114664000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr5:114663000-114664200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr5:114663000-114665400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr5:114663400-114664000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr5:114663600-114664200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:114663600-114665600	Enhancers	H9 Cell Line	embryonic stem cell
10	chr5:114663600-114666000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr5:114663800-114664200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr5:114663800-114664200	Enhancers	Brain Substantia Nigra	brain
13	chr5:114663800-114665200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:114664000-114664200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr5:114664000-114664400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr5:114664000-114664400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr5:114664000-114664600	Enhancers	Brain Germinal Matrix	brain
18	chr5:114664000-114665800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:114664000-114665800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr5:114664200-114664400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr5:114664200-114664400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr5:114664200-114664400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr5:114664200-114664600	Enhancers	Brain Anterior Caudate	brain
24	chr5:114664200-114664800	Enhancers	Stomach Mucosa	stomach
25	chr5:114664200-114665400	Enhancers	Primary B cells from peripheral blood	blood
26	chr5:114664200-114665400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:114664200-114665600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:114664200-114666000	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr5:114664400-114664600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr5:114664400-114664600	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr5:114664400-114664600	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr5:114664400-114664600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr5:114664400-114664600	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr5:114664400-114665000	Enhancers	GM12878-XiMat	blood
35	chr5:114664400-114665600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr5:114664400-114665600	Enhancers	K562	blood
37	chr5:114664600-114664800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr5:114664600-114664800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr5:114664600-114665000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr5:114664600-114665000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr5:114664600-114665000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr5:114664600-114665000	Weak transcription	Brain Germinal Matrix	brain
43	chr5:114664600-114665400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr5:114664600-114665600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr5:114664600-114665600	Active TSS	Brain Anterior Caudate	brain
46	chr5:114664600-114665800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr5:114664800-114665800	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr5:114665000-114665400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr5:114665000-114665400	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr5:114665000-114665800	Enhancers	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links