Variant report

Variant	esv2421652
Chromosome Location	chr5:14312802-14316381
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14309077..14311493-chr5:14313266..14316028,2	K562	blood:
2	chr5:14311393..14313647-chr5:14319084..14320830,2	MCF-7	breast:
3	chr5:14266100..14268810-chr5:14315325..14317635,2	K562	blood:
4	chr5:14306569..14308267-chr5:14310168..14313110,2	K562	blood:

Extended variants
information (count: 147 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535459384	chr5:14312834-14312835	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553820575	chr5:14312860-14312861	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572222479	chr5:14312880-14312881	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372390772	chr5:14312881-14312882	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376482187	chr5:14312892-14312893	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184953057	chr5:14312900-14312901	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189841023	chr5:14312909-14312910	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373961344	chr5:14312929-14312930	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370735147	chr5:14312962-14312963	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77390156	chr5:14312963-14312964	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543803906	chr5:14312965-14312966	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530387950	chr5:14312974-14312975	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562378108	chr5:14312989-14312990	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs57654086	chr5:14313009-14313010	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs146617384	chr5:14313025-14313026	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149189454	chr5:14313035-14313036	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142378161	chr5:14313049-14313050	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532922656	chr5:14313057-14313058	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370936294	chr5:14313065-14313066	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548615640	chr5:14313076-14313077	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551548243	chr5:14313148-14313149	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs165082	chr5:14313176-14313177	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs73059523	chr5:14313216-14313217	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs16903388	chr5:14313232-14313233	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs374613019	chr5:14313238-14313239	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563655789	chr5:14313270-14313271	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567244467	chr5:14313301-14313302	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535422759	chr5:14313351-14313352	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547421928	chr5:14313361-14313362	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566142168	chr5:14313394-14313395	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539595130	chr5:14313399-14313400	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs61396062	chr5:14313412-14313413	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs75051463	chr5:14313428-14313429	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576521435	chr5:14313437-14313438	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539894827	chr5:14313470-14313471	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138091850	chr5:14313491-14313492	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs151328279	chr5:14313594-14313595	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556069647	chr5:14313609-14313610	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs574404019	chr5:14313626-14313627	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs541014547	chr5:14313659-14313660	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs376289609	chr5:14313661-14313662	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs114414360	chr5:14313670-14313671	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs34997226	chr5:14313682-14313683	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs148244571	chr5:14313700-14313701	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs371190214	chr5:14313792-14313793	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs552634216	chr5:14313815-14313816	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs58716074	chr5:14313838-14313839	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs181935463	chr5:14313845-14313846	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs544735760	chr5:14313853-14313854	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs570818945	chr5:14313860-14313861	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
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
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
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	17643093	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	18940311	CNVD
Central neurocytomas	17123091	CNVD
Mental retardation	17847001	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	19546859	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Intracranial aneurysm	16715129	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:231 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14270400-14313600	Weak transcription	Small Intestine	intestine
2	chr5:14278000-14341200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:14283000-14319400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:14286200-14320400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:14286400-14321000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr5:14286600-14314400	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:14287000-14315000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr5:14288000-14324000	Strong transcription	Primary B cells from peripheral blood	blood
9	chr5:14290800-14321200	Strong transcription	Primary B cells from cord blood	blood
10	chr5:14291400-14316600	Weak transcription	Thymus	Thymus
11	chr5:14295600-14313400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:14297800-14316600	Weak transcription	Brain Substantia Nigra	brain
13	chr5:14298000-14316600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:14298000-14316600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr5:14299000-14314400	Strong transcription	Adipose Nuclei	Adipose
16	chr5:14299200-14315400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr5:14300000-14313200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr5:14300000-14316800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:14301200-14314000	Strong transcription	HepG2	liver
20	chr5:14302000-14313200	Weak transcription	Psoas Muscle	Psoas
21	chr5:14303600-14314400	Strong transcription	GM12878-XiMat	blood
22	chr5:14303800-14314400	Strong transcription	Liver	Liver
23	chr5:14303800-14323600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:14304000-14323800	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr5:14304200-14313200	Strong transcription	Fetal Muscle Leg	muscle
26	chr5:14304200-14319400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr5:14304200-14321800	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr5:14305000-14315000	Strong transcription	HMEC	breast
29	chr5:14305400-14326800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:14305600-14313000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:14305600-14313400	Strong transcription	NHLF	lung
32	chr5:14305600-14316400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr5:14305600-14316600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr5:14305600-14316600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr5:14305600-14317600	Strong transcription	HUVEC	blood vessel
36	chr5:14305600-14321200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr5:14306600-14315200	Strong transcription	A549	lung
38	chr5:14306800-14314200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr5:14306800-14316400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:14307000-14313400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:14307000-14314200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr5:14307000-14316400	Weak transcription	Brain Hippocampus Middle	brain
43	chr5:14307200-14313600	Strong transcription	Stomach Smooth Muscle	stomach
44	chr5:14307600-14313000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:14307600-14313800	Weak transcription	Aorta	Aorta
46	chr5:14307600-14316600	Weak transcription	Brain Angular Gyrus	brain
47	chr5:14307600-14316800	Weak transcription	Primary T cells from cord blood	blood
48	chr5:14307600-14321400	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr5:14307600-14321400	Strong transcription	NH-A	brain
50	chr5:14307800-14316400	Weak transcription	Esophagus	oesophagus

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