Variant report

Variant	esv2759327
Chromosome Location	chr5:15678556-15810987
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	chr5:15804197..15806125-chr5:15806935..15808758,2	K562	blood:
2	chr5:15383237..15384294-chr5:15793976..15794826,3	MCF-7	breast:
3	chr5:15691207..15693876-chr5:15698019..15699867,2	K562	blood:
4	chr5:15747913..15750874-chr5:15750994..15753003,2	K562	blood:
5	chr5:15719277..15719777-chr8:33370846..33371373,2	Hela-S3	cervix:
6	chr5:15804197..15806125-chr5:15806935..15808758,2	K562	blood:
7	chr5:15747913..15750874-chr5:15750994..15753003,2	K562	blood:
8	chr5:15804150..15805697-chr5:15806057..15808758,2	K562	blood:
9	chr5:15691207..15693876-chr5:15698019..15699867,2	K562	blood:
10	chr5:15463040..15463892-chr5:15794004..15794911,3	MCF-7	breast:
11	chr4:147603707..147604442-chr5:15685536..15686251,2	MCF-7	breast:
12	chr5:15691412..15693844-chr5:15721863..15723411,2	MCF-7	breast:
13	chr5:15463054..15463835-chr5:15793947..15794638,2	MCF-7	breast:
14	chr5:15683076..15684017-chr5:15995401..15996222,3	MCF-7	breast:
15	chr5:15691412..15693844-chr5:15721863..15723411,2	MCF-7	breast:
16	chr5:15804150..15805697-chr5:15806057..15808758,2	K562	blood:
17	chr5:15105857..15106576-chr5:15791048..15791750,2	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
ENSG00000239039	chromatin interactions
ENSG00000129696	chromatin interactions

Extended variants
information (count: 5266 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:5266 , 50 per page) page: 1 2 3 4 5 6 7 ... 106

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34341354	chr5:15678556-15678557	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183065451	chr5:15678581-15678582	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536985738	chr5:15678593-15678594	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141731669	chr5:15678624-15678625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371679882	chr5:15678628-15678629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187355122	chr5:15678650-15678651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142880852	chr5:15678652-15678653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553120068	chr5:15678674-15678675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572651262	chr5:15678706-15678707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546383728	chr5:15678742-15678743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs11951325	chr5:15678761-15678762	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs193142167	chr5:15678776-15678777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112314603	chr5:15678802-15678803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184053381	chr5:15678811-15678812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140006123	chr5:15678848-15678849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188983695	chr5:15678854-15678855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565838150	chr5:15678855-15678856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532921284	chr5:15678875-15678876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs151262151	chr5:15678893-15678894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192422556	chr5:15678960-15678961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201465254	chr5:15678967-15678968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370975119	chr5:15678992-15678993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569796898	chr5:15679000-15679001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537330967	chr5:15679055-15679056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143596977	chr5:15679070-15679071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150576120	chr5:15679091-15679092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534627994	chr5:15679099-15679100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73752492	chr5:15679181-15679182	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs79213042	chr5:15679219-15679220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79515545	chr5:15679243-15679244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35208022	chr5:15679251-15679252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558306933	chr5:15679256-15679257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115556976	chr5:15679257-15679258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544057905	chr5:15679280-15679281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184326693	chr5:15679303-15679304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529203777	chr5:15679308-15679309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139662725	chr5:15679330-15679331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs117842489	chr5:15679363-15679364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372253844	chr5:15679383-15679384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138252854	chr5:15679413-15679414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149715695	chr5:15679452-15679453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551613559	chr5:15679532-15679533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563484068	chr5:15679599-15679600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533856003	chr5:15679665-15679666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142784580	chr5:15679668-15679669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs80296244	chr5:15679671-15679672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530633711	chr5:15679672-15679673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs34375125	chr5:15679684-15679685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549231553	chr5:15679685-15679686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561545608	chr5:15679715-15679716	Weak transcription Enhancers	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:1615 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15665200-15680800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:15668400-15679000	Weak transcription	Brain Anterior Caudate	brain
3	chr5:15670400-15683200	Weak transcription	HUVEC	blood vessel
4	chr5:15672200-15684400	Weak transcription	NHDF-Ad	bronchial
5	chr5:15674200-15680000	Enhancers	Fetal Lung	lung
6	chr5:15674400-15684200	Weak transcription	HSMMtube	muscle
7	chr5:15675000-15680400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr5:15675200-15679400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:15675200-15687000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr5:15675200-15693000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:15675800-15679400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:15675800-15679400	Weak transcription	Brain Substantia Nigra	brain
13	chr5:15675800-15686200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr5:15676000-15686000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr5:15676000-15687200	Weak transcription	Brain Angular Gyrus	brain
16	chr5:15676200-15680000	Enhancers	Fetal Stomach	stomach
17	chr5:15676200-15682200	Weak transcription	Aorta	Aorta
18	chr5:15676600-15680000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr5:15677000-15679200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr5:15677000-15682200	Weak transcription	Left Ventricle	heart
21	chr5:15677000-15682800	Weak transcription	Fetal Kidney	kidney
22	chr5:15677000-15690800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:15677200-15682800	Weak transcription	Colon Smooth Muscle	Colon
24	chr5:15677600-15683400	Weak transcription	Ovary	ovary
25	chr5:15678000-15678600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:15678200-15681000	Enhancers	Fetal Heart	heart
27	chr5:15678600-15684600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:15679000-15679400	Enhancers	Brain Anterior Caudate	brain
29	chr5:15679200-15679600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr5:15679200-15679800	Enhancers	Brain Cingulate Gyrus	brain
31	chr5:15679400-15679600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr5:15679400-15679600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:15679400-15680000	Enhancers	Brain Substantia Nigra	brain
34	chr5:15679600-15680200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr5:15679600-15680400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr5:15679600-15684400	Weak transcription	HSMM	muscle
37	chr5:15680000-15680800	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr5:15680000-15681000	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr5:15680000-15682800	Weak transcription	Fetal Stomach	stomach
40	chr5:15680000-15683200	Weak transcription	Fetal Lung	lung
41	chr5:15680000-15687000	Weak transcription	Brain Substantia Nigra	brain
42	chr5:15680200-15680800	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr5:15680400-15680800	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr5:15680400-15680800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr5:15680400-15681200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr5:15680800-15681000	Enhancers	Right Ventricle	heart
47	chr5:15680800-15681400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:15680800-15682800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:15680800-15683000	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr5:15680800-15683000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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