Variant report

Variant	nsv599200
Chromosome Location	chr5:103249714-103277997
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:5)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:103253901..103255465-chr5:103259944..103261720,2	K562	blood:
2	chr5:103255422..103257271-chr5:103259768..103262225,2	K562	blood:
3	chr5:103255422..103257271-chr5:103259768..103262225,2	K562	blood:
4	chr5:103253901..103255465-chr5:103259944..103261720,2	K562	blood:
5	chr5:103249220..103251663-chr5:103417841..103420142,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUDT12-9	chr5:103254932-103254986	l_2987_chr5:103244051-103254986_brain
2	lnc-NUDT12-9	chr5:103249941-103250067	l_2987_chr5:103244051-103254986_brain
3	lnc-NUDT12-9	chr5:103251704-103251784	l_2987_chr5:103244051-103254986_brain

No data

Extended variants
information (count: 1018 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1018 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10074507	chr5:103249714-103249715	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529889986	chr5:103249718-103249719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540409840	chr5:103249734-103249735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190693320	chr5:103249743-103249744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181980201	chr5:103249752-103249753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542362235	chr5:103249756-103249757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569114040	chr5:103249788-103249789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531610054	chr5:103249886-103249887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548445465	chr5:103249891-103249892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553006101	chr5:103249916-103249917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145129973	chr5:103249988-103249989	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs185290483	chr5:103250162-103250163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554062767	chr5:103250173-103250174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189818614	chr5:103250181-103250182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538309048	chr5:103250224-103250225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113483482	chr5:103250266-103250267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs13157053	chr5:103250271-103250272	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs111434424	chr5:103250272-103250273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76237858	chr5:103250291-103250292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115185804	chr5:103250324-103250325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574770403	chr5:103250353-103250354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116689599	chr5:103250379-103250380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560041165	chr5:103250443-103250444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532343675	chr5:103250511-103250512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114231311	chr5:103250524-103250525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563017406	chr5:103250607-103250608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531718670	chr5:103250634-103250635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548161796	chr5:103250644-103250645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147771918	chr5:103250651-103250652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185391821	chr5:103250659-103250660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189861358	chr5:103250663-103250664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376321419	chr5:103250696-103250697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs17155951	chr5:103250748-103250749	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs540039607	chr5:103250795-103250796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs114031989	chr5:103250815-103250816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12652130	chr5:103250853-103250854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs77676679	chr5:103250875-103250876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537976087	chr5:103250933-103250934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565989252	chr5:103250954-103250955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562733520	chr5:103250962-103250963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184977796	chr5:103251003-103251004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535280026	chr5:103251087-103251088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574486965	chr5:103251133-103251134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs808045	chr5:103251148-103251149	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs554047695	chr5:103251155-103251156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572452281	chr5:103251160-103251161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560604293	chr5:103251166-103251167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576930424	chr5:103251183-103251184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34148787	chr5:103251221-103251222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545470750	chr5:103251242-103251243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:103244800-103252200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:103245000-103254400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr5:103246400-103254000	Weak transcription	NH-A	brain
4	chr5:103248200-103250800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr5:103248800-103254400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:103250600-103251200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:103250600-103255400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:103250800-103251000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr5:103250800-103251200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr5:103250800-103251200	Enhancers	NHDF-Ad	bronchial
11	chr5:103250800-103251200	Enhancers	Osteobl	bone
12	chr5:103250800-103251600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:103251000-103252200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:103251200-103254000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:103251200-103254000	Weak transcription	Osteobl	bone
16	chr5:103251200-103254200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr5:103251400-103251600	Enhancers	Brain Hippocampus Middle	brain
18	chr5:103251400-103251800	Enhancers	HSMMtube	muscle
19	chr5:103251400-103253200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:103251600-103252200	Weak transcription	Brain Hippocampus Middle	brain
21	chr5:103251800-103254000	Weak transcription	HSMMtube	muscle
22	chr5:103252200-103252400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr5:103252200-103252400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr5:103252200-103252600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr5:103252200-103252600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr5:103252200-103252600	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr5:103252200-103252600	Enhancers	Brain Cingulate Gyrus	brain
28	chr5:103252200-103252800	Enhancers	Brain Hippocampus Middle	brain
29	chr5:103252200-103253000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr5:103252400-103252600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:103252400-103254200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr5:103252600-103253200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr5:103252600-103254000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr5:103252600-103254200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr5:103252600-103254400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr5:103252800-103254200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr5:103252800-103255000	Weak transcription	Brain Hippocampus Middle	brain
38	chr5:103252800-103259400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:103253000-103253200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr5:103253000-103254200	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr5:103253200-103254200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr5:103253200-103254200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:103253200-103254400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:103254000-103255200	Enhancers	Osteobl	bone
45	chr5:103254000-103255400	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr5:103254000-103255400	Enhancers	HSMMtube	muscle
47	chr5:103254000-103255400	Enhancers	NH-A	brain
48	chr5:103254000-103255600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:103254200-103254800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr5:103254200-103255000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links