Variant report

Variant	nsv969206
Chromosome Location	chr5:116288516-116300472
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 529 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:529 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188635575	chr5:116288586-116288587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565895994	chr5:116288720-116288721	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs534475839	chr5:116288733-116288734	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs554849111	chr5:116288794-116288795	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs561080987	chr5:116288796-116288797	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs574639571	chr5:116288808-116288809	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs150687363	chr5:116288809-116288810	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs181040836	chr5:116288815-116288816	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs73266933	chr5:116288826-116288827	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs576557362	chr5:116288945-116288946	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs545515188	chr5:116288976-116288977	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs140956511	chr5:116288991-116288992	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs185905926	chr5:116289002-116289003	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs558990080	chr5:116289028-116289029	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs112514438	chr5:116289082-116289083	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs190472839	chr5:116289083-116289084	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs531106253	chr5:116289100-116289101	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs532314758	chr5:116289131-116289132	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs569381795	chr5:116289149-116289150	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs547335114	chr5:116289151-116289152	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs564455130	chr5:116289167-116289168	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs375445954	chr5:116289188-116289189	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs547121882	chr5:116289207-116289208	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs559107882	chr5:116289255-116289256	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs566813146	chr5:116289269-116289270	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs76130120	chr5:116289271-116289272	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs529720713	chr5:116289286-116289287	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs548082001	chr5:116289311-116289312	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs568372110	chr5:116289316-116289317	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs536932688	chr5:116289321-116289322	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs556803009	chr5:116289322-116289323	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs576451535	chr5:116289334-116289335	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs202234240	chr5:116289353-116289354	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs538999239	chr5:116289359-116289360	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs182334295	chr5:116289395-116289396	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs572841446	chr5:116289411-116289412	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs187286307	chr5:116289433-116289434	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs143175359	chr5:116289441-116289442	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs575925837	chr5:116289494-116289495	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs548289638	chr5:116289527-116289528	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs191838144	chr5:116289530-116289531	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs147384767	chr5:116289596-116289597	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs72808088	chr5:116289598-116289599	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs373278228	chr5:116289618-116289619	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs560684085	chr5:116289643-116289644	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs529348840	chr5:116289649-116289650	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs548400105	chr5:116289683-116289684	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs568179072	chr5:116289719-116289720	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs139513344	chr5:116289723-116289724	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs374226862	chr5:116289751-116289752	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116280000-116289600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:116280200-116289000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr5:116280200-116289200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:116280600-116288600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:116282400-116289000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr5:116287200-116291000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr5:116288000-116289200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:116288200-116290600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:116288400-116288600	Enhancers	Brain Hippocampus Middle	brain
10	chr5:116288400-116288600	Enhancers	Brain Substantia Nigra	brain
11	chr5:116288400-116288800	Enhancers	Brain Cingulate Gyrus	brain
12	chr5:116288400-116289600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr5:116288400-116289800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr5:116288400-116290000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr5:116288400-116290000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr5:116288600-116288800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:116288600-116289000	Flanking Active TSS	Brain Hippocampus Middle	brain
18	chr5:116288600-116289000	Weak transcription	Brain Substantia Nigra	brain
19	chr5:116288600-116289400	Active TSS	Brain Anterior Caudate	brain
20	chr5:116288600-116289400	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr5:116288600-116289600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr5:116288800-116289400	Active TSS	Brain Angular Gyrus	brain
23	chr5:116288800-116289600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:116288800-116289800	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr5:116288800-116289800	Active TSS	Brain Cingulate Gyrus	brain
26	chr5:116288800-116290000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:116289000-116289200	Enhancers	H1 Cell Line	embryonic stem cell
28	chr5:116289000-116289600	Active TSS	Brain Hippocampus Middle	brain
29	chr5:116289000-116289800	Active TSS	Brain Substantia Nigra	brain
30	chr5:116289000-116290000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr5:116289200-116290000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:116289400-116289600	Enhancers	Brain Anterior Caudate	brain
33	chr5:116289400-116291000	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr5:116289600-116289800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr5:116289600-116289800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr5:116289600-116290000	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr5:116289600-116290400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:116289600-116291000	Weak transcription	Brain Anterior Caudate	brain
39	chr5:116289800-116290600	Enhancers	Brain Substantia Nigra	brain
40	chr5:116289800-116290800	Enhancers	Brain Cingulate Gyrus	brain
41	chr5:116289800-116295000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr5:116289800-116297000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr5:116290000-116290600	Enhancers	Brain Hippocampus Middle	brain
44	chr5:116290000-116291000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:116290000-116293200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr5:116290600-116293000	Weak transcription	Brain Hippocampus Middle	brain
47	chr5:116290600-116299600	Weak transcription	Brain Substantia Nigra	brain
48	chr5:116291000-116293400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr5:116293000-116293600	Enhancers	Brain Hippocampus Middle	brain
50	chr5:116293200-116293400	Enhancers	HUES6 Cell Line	embryonic stem cell

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