Variant report

Variant	esv2763894
Chromosome Location	chr5:15714022-15863332
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:17)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:15105857..15106576-chr5:15791048..15791750,2	MCF-7	breast:
2	chr5:15691412..15693844-chr5:15721863..15723411,2	MCF-7	breast:
3	chr5:15463233..15463955-chr5:15824094..15824960,2	MCF-7	breast:
4	chr5:15105969..15106817-chr5:15824201..15824721,2	MCF-7	breast:
5	chr5:15804150..15805697-chr5:15806057..15808758,2	K562	blood:
6	chr5:15719277..15719777-chr8:33370846..33371373,2	Hela-S3	cervix:
7	chr5:15105600..15106389-chr5:15824138..15824978,2	MCF-7	breast:
8	chr5:15747913..15750874-chr5:15750994..15753003,2	K562	blood:
9	chr5:15747913..15750874-chr5:15750994..15753003,2	K562	blood:
10	chr5:15804197..15806125-chr5:15806935..15808758,2	K562	blood:
11	chr5:15463008..15463875-chr5:15824484..15825033,2	MCF-7	breast:
12	chr5:15804197..15806125-chr5:15806935..15808758,2	K562	blood:
13	chr5:15383237..15384294-chr5:15793976..15794826,3	MCF-7	breast:
14	chr5:15804150..15805697-chr5:15806057..15808758,2	K562	blood:
15	chr5:15463040..15463892-chr5:15794004..15794911,3	MCF-7	breast:
16	chr10:92847696..92848554-chr5:15847240..15848200,2	MCF-7	breast:
17	chr5:15463054..15463835-chr5:15793947..15794638,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM105B-11	chr5:15775820-15777145	NONHSAT100587

No data

Variant related genes	Relation type
ENSG00000129696	chromatin interactions
ENSG00000239039	chromatin interactions

Extended variants
information (count: 5821 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:5821 , 50 per page) page: 1 2 3 4 5 6 7 ... 117

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12519807	chr5:15714022-15714023	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182752561	chr5:15714023-15714024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186469960	chr5:15714026-15714027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs57493554	chr5:15714082-15714083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76752234	chr5:15714137-15714138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190118198	chr5:15714159-15714160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs56742039	chr5:15714201-15714202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556644019	chr5:15714202-15714203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs578048322	chr5:15714207-15714208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533556979	chr5:15714262-15714263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535823323	chr5:15714308-15714309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554591090	chr5:15714398-15714399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545386752	chr5:15714410-15714411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560492614	chr5:15714433-15714434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566405172	chr5:15714482-15714483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372047025	chr5:15714488-15714489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114318474	chr5:15714514-15714515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112798565	chr5:15714520-15714521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572321210	chr5:15714556-15714557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545654354	chr5:15714575-15714576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557668865	chr5:15714600-15714601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367929824	chr5:15714634-15714635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576058201	chr5:15714640-15714641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543031449	chr5:15714716-15714717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561340822	chr5:15714729-15714730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528527874	chr5:15714735-15714736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540741129	chr5:15714745-15714746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200946396	chr5:15714767-15714768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532158508	chr5:15714785-15714786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550388744	chr5:15714810-15714811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113118166	chr5:15714827-15714828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376389863	chr5:15714830-15714831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529948205	chr5:15714831-15714832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187367397	chr5:15714847-15714848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566485462	chr5:15714851-15714852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192148576	chr5:15714874-15714875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552235659	chr5:15714890-15714891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71603797	chr5:15714957-15714958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35229749	chr5:15714958-15714959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77150797	chr5:15714960-15714961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs397884648	chr5:15714978-15714979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs79435841	chr5:15714979-15714980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184070852	chr5:15714992-15714993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570591304	chr5:15714995-15714996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539235607	chr5:15715071-15715072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557632083	chr5:15715073-15715074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542988705	chr5:15715110-15715111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146271293	chr5:15715122-15715123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536946476	chr5:15715132-15715133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560917601	chr5:15715133-15715134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1464 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15700400-15715600	Weak transcription	Fetal Stomach	stomach
2	chr5:15701400-15718200	Weak transcription	Fetal Lung	lung
3	chr5:15704400-15716600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:15704800-15716400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr5:15705600-15715600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:15705600-15718600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:15708600-15717400	Weak transcription	Aorta	Aorta
8	chr5:15712000-15715600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:15712400-15714400	Enhancers	Fetal Heart	heart
10	chr5:15713400-15717200	Weak transcription	Right Atrium	heart
11	chr5:15714400-15715600	Weak transcription	Fetal Heart	heart
12	chr5:15715200-15720600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:15715600-15717600	Enhancers	Fetal Stomach	stomach
14	chr5:15715600-15717800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr5:15715600-15718200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:15715600-15720400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:15715600-15720600	Enhancers	Fetal Heart	heart
18	chr5:15715800-15716200	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr5:15715800-15716800	Enhancers	Brain Substantia Nigra	brain
20	chr5:15715800-15717800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr5:15715800-15717800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:15715800-15718200	Enhancers	NHDF-Ad	bronchial
23	chr5:15716000-15716200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:15716000-15716200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr5:15716000-15716600	Enhancers	Brain Cingulate Gyrus	brain
26	chr5:15716000-15717400	Enhancers	Stomach Smooth Muscle	stomach
27	chr5:15716000-15717600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr5:15716000-15717800	Enhancers	Colon Smooth Muscle	Colon
29	chr5:15716000-15718400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:15716200-15716600	Enhancers	Brain Anterior Caudate	brain
31	chr5:15716200-15716800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr5:15716200-15717000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:15716200-15717200	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr5:15716200-15718800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr5:15716400-15716600	Enhancers	Brain Hippocampus Middle	brain
36	chr5:15716400-15716600	Enhancers	Ovary	ovary
37	chr5:15716400-15716600	Enhancers	Rectal Smooth Muscle	rectum
38	chr5:15716400-15716600	Enhancers	Right Ventricle	heart
39	chr5:15716400-15716800	Enhancers	Adipose Nuclei	Adipose
40	chr5:15716400-15716800	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr5:15716400-15716800	Enhancers	Fetal Brain Female	brain
42	chr5:15716400-15717400	Enhancers	Left Ventricle	heart
43	chr5:15716400-15717600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr5:15716400-15717600	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr5:15716400-15717600	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr5:15716400-15717600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:15716400-15717600	Enhancers	Osteobl	bone
48	chr5:15716600-15716800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr5:15716600-15717200	Weak transcription	Right Ventricle	heart
50	chr5:15716600-15717600	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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