Variant report

Variant	nsv462326
Chromosome Location	chr5:103225174-103254427
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:5)
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	chr5:103230190..103231786-chr5:103232834..103235097,2	K562	blood:
2	chr5:103249220..103251663-chr5:103417841..103420142,2	K562	blood:
3	chr5:103240624..103244376-chr5:103246546..103249672,3	K562	blood:
4	chr5:103242025..103244376-chr5:103246546..103249360,2	K562	blood:
5	chr5:103240624..103244376-chr5:103246546..103249672,3	K562	blood:
6	chr5:103230190..103231786-chr5:103232834..103235097,2	K562	blood:
7	chr5:103253901..103255465-chr5:103259944..103261720,2	K562	blood:
8	chr5:103242025..103244376-chr5:103246546..103249360,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUDT12-3	chr5:103227033-103227087	XLOC_004945
2	lnc-NUDT12-9	chr5:103249941-103250067	l_2987_chr5:103244051-103254986_brain
3	lnc-NUDT12-9	chr5:103244052-103245564	l_2987_chr5:103244051-103254986_brain
4	lnc-NUDT12-3	chr5:103227033-103227087	XLOC_004945
5	lnc-NUDT12-9	chr5:103251704-103251784	l_2987_chr5:103244051-103254986_brain

No data

Extended variants
information (count: 992 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:992 , 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	rs969637	chr5:103225174-103225175	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs374190967	chr5:103225197-103225198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561646508	chr5:103225244-103225245	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559294670	chr5:103225311-103225312	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149459151	chr5:103225315-103225316	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs56283405	chr5:103225318-103225319	Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs201216740	chr5:103225343-103225344	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74777567	chr5:103225355-103225356	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550830044	chr5:103225377-103225378	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75890395	chr5:103225401-103225402	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190781120	chr5:103225468-103225469	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549581574	chr5:103225554-103225555	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563413802	chr5:103225557-103225558	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182965428	chr5:103225673-103225674	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78955837	chr5:103225701-103225702	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141611828	chr5:103225729-103225730	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534758186	chr5:103225746-103225747	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35430755	chr5:103225754-103225755	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs397701026	chr5:103225755-103225756	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs202241335	chr5:103225756-103225757	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552006193	chr5:103225901-103225902	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372090899	chr5:103225927-103225928	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567015994	chr5:103225959-103225960	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534289486	chr5:103225967-103225968	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571854446	chr5:103226008-103226009	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116213530	chr5:103226036-103226037	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557607654	chr5:103226037-103226038	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554379621	chr5:103226056-103226057	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574309445	chr5:103226145-103226146	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187430546	chr5:103226148-103226149	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34253	chr5:103226229-103226230	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs572003568	chr5:103226236-103226237	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs544598558	chr5:103226257-103226258	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs190270153	chr5:103226260-103226261	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs77185238	chr5:103226291-103226292	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs34252	chr5:103226321-103226322	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs371833474	chr5:103226398-103226399	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs11949157	chr5:103226432-103226433	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs113810386	chr5:103226494-103226495	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs577827860	chr5:103226495-103226496	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs529096600	chr5:103226504-103226505	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs112298703	chr5:103226513-103226514	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs150693527	chr5:103226560-103226561	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs33925537	chr5:103226588-103226589	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs559450796	chr5:103226609-103226610	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs115972875	chr5:103226655-103226656	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs556157672	chr5:103226688-103226689	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs188044317	chr5:103226701-103226702	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs192274159	chr5:103226751-103226752	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs571878589	chr5:103226772-103226773	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:103224400-103226200	Weak transcription	Brain Substantia Nigra	brain
2	chr5:103225000-103225400	Enhancers	Brain Anterior Caudate	brain
3	chr5:103225200-103227200	Active TSS	Brain Angular Gyrus	brain
4	chr5:103225200-103227200	Active TSS	Brain Cingulate Gyrus	brain
5	chr5:103225200-103227200	Active TSS	Brain Hippocampus Middle	brain
6	chr5:103225400-103226200	Weak transcription	Brain Anterior Caudate	brain
7	chr5:103225400-103227400	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr5:103226200-103227200	Active TSS	Brain Anterior Caudate	brain
9	chr5:103226200-103227200	Active TSS	Brain Substantia Nigra	brain
10	chr5:103226200-103227400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:103226600-103227000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:103226600-103227200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:103226800-103227200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr5:103227000-103230400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr5:103227200-103228000	Weak transcription	Brain Substantia Nigra	brain
16	chr5:103227200-103228200	Weak transcription	Brain Hippocampus Middle	brain
17	chr5:103227200-103230400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:103227200-103230400	Weak transcription	Brain Angular Gyrus	brain
19	chr5:103227200-103230400	Weak transcription	Brain Anterior Caudate	brain
20	chr5:103227400-103230000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:103227400-103230400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr5:103228000-103228600	Enhancers	Brain Substantia Nigra	brain
23	chr5:103228200-103228800	Enhancers	Brain Hippocampus Middle	brain
24	chr5:103228600-103229800	Weak transcription	Brain Substantia Nigra	brain
25	chr5:103228800-103230200	Weak transcription	Brain Hippocampus Middle	brain
26	chr5:103229800-103230800	Enhancers	Brain Substantia Nigra	brain
27	chr5:103230000-103230800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr5:103230000-103231000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:103230200-103230600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr5:103230200-103230600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:103230200-103230800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr5:103230200-103230800	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr5:103230200-103230800	Enhancers	Brain Hippocampus Middle	brain
34	chr5:103230400-103230800	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr5:103230400-103230800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:103230400-103230800	Enhancers	Brain Angular Gyrus	brain
37	chr5:103230400-103230800	Enhancers	Brain Anterior Caudate	brain
38	chr5:103230400-103230800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr5:103230400-103231000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:103230400-103231000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr5:103230400-103231000	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr5:103230800-103237400	Weak transcription	Brain Hippocampus Middle	brain
43	chr5:103231000-103231600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr5:103231600-103231800	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr5:103236800-103237600	Enhancers	Placenta Amnion	Placenta Amnion
46	chr5:103237000-103239000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr5:103237200-103237800	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr5:103237400-103238000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr5:103237400-103238000	Enhancers	Brain Hippocampus Middle	brain
50	chr5:103237400-103238800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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