Variant report

Variant	nsv965544
Chromosome Location	chr5:15502274-15507654
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 169 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:169 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566780863	chr5:15502283-15502284	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs375406181	chr5:15502284-15502285	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs549897515	chr5:15502289-15502290	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs568073555	chr5:15502339-15502340	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs78769953	chr5:15502486-15502487	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs34301888	chr5:15502495-15502496	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs537530702	chr5:15502522-15502523	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs76549824	chr5:15502538-15502539	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs368016184	chr5:15502634-15502635	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs535790146	chr5:15502664-15502665	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs554119501	chr5:15502682-15502683	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs139009795	chr5:15502683-15502684	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs142100096	chr5:15502787-15502788	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs74519686	chr5:15502807-15502808	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181010149	chr5:15502831-15502832	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577295123	chr5:15502848-15502849	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569563767	chr5:15502882-15502883	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs57738029	chr5:15502885-15502886	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs562582727	chr5:15502904-15502905	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530044279	chr5:15502912-15502913	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115201876	chr5:15502968-15502969	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560433036	chr5:15502972-15502973	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536249871	chr5:15503026-15503027	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs140307162	chr5:15503074-15503075	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs552773885	chr5:15503083-15503084	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs145232102	chr5:15503096-15503097	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs537994959	chr5:15503137-15503138	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs185032643	chr5:15503185-15503186	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs188667069	chr5:15503209-15503210	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs181100146	chr5:15503258-15503259	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs117903964	chr5:15503259-15503260	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs535461314	chr5:15503265-15503266	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs201379114	chr5:15503296-15503297	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs557979098	chr5:15503358-15503359	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs367583725	chr5:15503359-15503360	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs576146862	chr5:15503361-15503362	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs543561489	chr5:15503391-15503392	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs554608406	chr5:15503399-15503400	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs187037525	chr5:15503421-15503422	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111736795	chr5:15503454-15503455	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541834694	chr5:15503465-15503466	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560102752	chr5:15503486-15503487	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567918615	chr5:15503488-15503489	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552594670	chr5:15503498-15503499	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141384368	chr5:15503550-15503551	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372396102	chr5:15503551-15503552	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191425696	chr5:15503648-15503649	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184067270	chr5:15503650-15503651	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568184287	chr5:15503665-15503666	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535508914	chr5:15503667-15503668	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	21364760	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Urothelial carcinoma	21177765	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:257 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15499400-15502600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:15499400-15502600	Active TSS	Colon Smooth Muscle	Colon
3	chr5:15499400-15502600	Active TSS	NHDF-Ad	bronchial
4	chr5:15499400-15502800	Active TSS	Brain Substantia Nigra	brain
5	chr5:15499600-15502400	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr5:15499600-15502400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
7	chr5:15499600-15502400	Active TSS	NH-A	brain
8	chr5:15499600-15502600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:15499600-15502600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:15499600-15502600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:15499600-15502600	Active TSS	Aorta	Aorta
12	chr5:15499600-15502600	Active TSS	Fetal Muscle Trunk	muscle
13	chr5:15499600-15502600	Active TSS	Right Ventricle	heart
14	chr5:15499600-15502800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:15499600-15502800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr5:15499600-15502800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
17	chr5:15499600-15502800	Active TSS	Fetal Kidney	kidney
18	chr5:15499600-15502800	Active TSS	Left Ventricle	heart
19	chr5:15499600-15502800	Active TSS	Ovary	ovary
20	chr5:15499600-15503000	Active TSS	Right Atrium	heart
21	chr5:15499800-15502400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr5:15499800-15502400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:15499800-15502400	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr5:15499800-15502600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:15499800-15502600	Active TSS	Brain Angular Gyrus	brain
26	chr5:15499800-15502600	Active TSS	Fetal Stomach	stomach
27	chr5:15499800-15503000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:15500000-15502400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:15500000-15502400	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr5:15500000-15502400	Active TSS	Fetal Lung	lung
31	chr5:15500000-15502400	Active TSS	Rectal Smooth Muscle	rectum
32	chr5:15500000-15502400	Active TSS	HSMM	muscle
33	chr5:15500000-15502600	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr5:15500000-15502600	Active TSS	HSMMtube	muscle
35	chr5:15500000-15502800	Active TSS	Fetal Muscle Leg	muscle
36	chr5:15500200-15502400	Active TSS	HUVEC	blood vessel
37	chr5:15500200-15502600	Active TSS	NHLF	lung
38	chr5:15500800-15502400	Flanking Active TSS	Brain Germinal Matrix	brain
39	chr5:15500800-15502800	ZNF genes & repeats	Fetal Heart	heart
40	chr5:15500800-15502800	Flanking Active TSS	Dnd41	blood
41	chr5:15501000-15502800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:15501200-15502600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr5:15501200-15503000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr5:15501400-15502800	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr5:15501600-15502400	Active TSS	H1 Cell Line	embryonic stem cell
46	chr5:15501600-15502400	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr5:15501600-15502400	Active TSS	Psoas Muscle	Psoas
48	chr5:15501600-15502800	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr5:15501600-15502800	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr5:15501600-15512000	Weak transcription	Small Intestine	intestine

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