Variant report

Variant	nsv471029
Chromosome Location	chr5:103906144-103971846
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:103909538..103911101-chr5:103914099..103915788,2	K562	blood:
2	chr5:103959799..103963456-chr5:103964708..103968737,3	MCF-7	breast:
3	chr5:103950660..103952781-chr5:103982477..103984816,2	MCF-7	breast:
4	chr5:103955211..103956753-chr5:103960969..103962805,2	MCF-7	breast:
5	chr5:103909538..103911101-chr5:103914099..103915788,2	K562	blood:
6	chr5:103955211..103956753-chr5:103960969..103962805,2	MCF-7	breast:
7	chr10:123096692..123097195-chr5:103919780..103920280,2	MCF-7	breast:
8	chr5:103959799..103963456-chr5:103964708..103968737,3	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUDT12-5	chr5:103966088-103966357	ENSG00000251574
2	lnc-NUDT12-5	chr5:103966237-103966357	ENSG00000251574

No data

Extended variants
information (count: 969 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:969 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11744767	chr5:103906144-103906145	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552212869	chr5:103906145-103906146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569256811	chr5:103906167-103906168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538382975	chr5:103906297-103906298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs72778998	chr5:103906360-103906361	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs567490849	chr5:103906386-103906387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184667856	chr5:103906388-103906389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138126096	chr5:103906389-103906390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189186060	chr5:103906513-103906514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547441883	chr5:103906530-103906531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116821141	chr5:103906607-103906608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373084762	chr5:103906637-103906638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558630254	chr5:103906639-103906640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575236454	chr5:103906713-103906714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145867656	chr5:103906729-103906730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561301787	chr5:103906738-103906739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs60757576	chr5:103906745-103906746	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs149019929	chr5:103906751-103906752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73778072	chr5:103906752-103906753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13159549	chr5:103906756-103906757	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs374462213	chr5:103906816-103906817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147086462	chr5:103906823-103906824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548423666	chr5:103906874-103906875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562942468	chr5:103906890-103906891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147728878	chr5:103906944-103906945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs80291192	chr5:103906989-103906990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377318235	chr5:103907000-103907001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536457979	chr5:103907083-103907084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569906045	chr5:103907120-103907121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546868456	chr5:103907219-103907220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12657123	chr5:103907272-103907273	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs538972325	chr5:103907294-103907295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192590992	chr5:103907308-103907309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7703746	chr5:103907337-103907338	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs376349046	chr5:103907379-103907380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557772955	chr5:103907388-103907389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538643322	chr5:103907394-103907395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554664775	chr5:103907411-103907412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540465955	chr5:103907429-103907430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540431568	chr5:103907495-103907496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560361577	chr5:103907509-103907510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370192509	chr5:103907514-103907515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs72779000	chr5:103907522-103907523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373669924	chr5:103907566-103907567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1421667	chr5:103907606-103907607	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs146579288	chr5:103907610-103907611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370718642	chr5:103907630-103907631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554177775	chr5:103907638-103907639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71588353	chr5:103907694-103907695	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs184780771	chr5:103907717-103907718	Weak transcription	n/a	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
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	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
Myelofibrosis	22110671	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
Obesity	20622171	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:103905400-103906200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:103906000-103906400	Weak transcription	Ovary	ovary
3	chr5:103906000-103906800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:103906000-103907200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr5:103906200-103907200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr5:103906200-103908800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:103906400-103907000	Enhancers	Ovary	ovary
8	chr5:103906600-103907000	Enhancers	Fetal Lung	lung
9	chr5:103906600-103907400	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr5:103906800-103907200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr5:103908800-103909000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:103908800-103909200	Enhancers	Brain Germinal Matrix	brain
13	chr5:103908800-103909200	Enhancers	Fetal Brain Female	brain
14	chr5:103909000-103909400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:103909000-103911200	Enhancers	Fetal Brain Male	brain
16	chr5:103909200-103909600	Weak transcription	Brain Germinal Matrix	brain
17	chr5:103909200-103910200	Weak transcription	Fetal Brain Female	brain
18	chr5:103909400-103910600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:103909600-103909800	Enhancers	Brain Germinal Matrix	brain
20	chr5:103909600-103910600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr5:103909800-103910400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:103909800-103910600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:103909800-103911000	Weak transcription	Brain Germinal Matrix	brain
24	chr5:103910200-103911400	Enhancers	Fetal Brain Female	brain
25	chr5:103911000-103911200	Enhancers	Brain Germinal Matrix	brain
26	chr5:103911600-103912000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:103911600-103912000	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr5:103912000-103912800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:103913800-103914600	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr5:103914600-103921800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr5:103921400-103922600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr5:103921800-103922600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr5:103921800-103922600	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr5:103922000-103922600	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr5:103934800-103936000	Enhancers	Brain Germinal Matrix	brain
36	chr5:103941600-103942600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:103941800-103942000	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr5:103941800-103942400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:103942000-103942400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr5:103942000-103942400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr5:103942000-103942600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:103942000-103942600	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr5:103942000-103942600	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr5:103942000-103943200	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr5:103942400-103942600	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr5:103942400-103946800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr5:103942600-103946800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr5:103943200-103946800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr5:103945800-103946000	Enhancers	Fetal Brain Male	brain
50	chr5:103945800-103946200	Enhancers	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links