Variant report

Variant	nsv976234
Chromosome Location	chr13:38924727-38933604
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:0)
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	chr13:38919358..38926299-chr13:38929248..38934915,10	MCF-7	breast:
2	chr13:38254203..38256964-chr13:38926574..38928544,2	K562	blood:
3	chr13:38922765..38925249-chr13:38925440..38927480,2	K562	blood:
4	chr13:38926354..38928723-chr13:38929621..38932377,2	MCF-7	breast:
5	chr13:38913197..38918401-chr13:38928849..38932713,4	K562	blood:
6	chr13:38928713..38933480-chr13:38933569..38937832,7	MCF-7	breast:
7	chr13:38931254..38934078-chr13:38935864..38939575,4	K562	blood:
8	chr13:38928524..38930936-chr13:38934503..38937982,3	K562	blood:
9	chr13:38929120..38930872-chr13:38933136..38936184,3	K562	blood:
10	chr13:38926354..38928723-chr13:38929621..38932377,2	MCF-7	breast:
11	chr13:38917886..38920151-chr13:38925868..38928712,2	K562	blood:
12	chr13:38923066..38925606-chr13:38931554..38933127,2	MCF-7	breast:
13	chr13:38928713..38933480-chr13:38933569..38937832,7	MCF-7	breast:
14	chr13:38924316..38926531-chr13:38938318..38940718,2	MCF-7	breast:
15	chr13:38929120..38930872-chr13:38933136..38936184,3	K562	blood:
16	chr13:38915558..38922004-chr13:38925835..38933064,8	K562	blood:
17	chr13:38921186..38924004-chr13:38924043..38925621,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000120686	chromatin interactions

Extended variants
information (count: 360 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:360 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73460276	chr13:38924730-38924731	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187885239	chr13:38924769-38924770	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs540219737	chr13:38924827-38924828	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs559935740	chr13:38924844-38924845	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs17298046	chr13:38924871-38924872	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs1330959	chr13:38924886-38924887	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs562813830	chr13:38924891-38924892	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs568774838	chr13:38924909-38924910	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs17057850	chr13:38924962-38924963	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs568199021	chr13:38924979-38924980	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs2485789	chr13:38924984-38924985	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs574422123	chr13:38925015-38925016	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs547383097	chr13:38925017-38925018	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs371908183	chr13:38925070-38925071	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs570708799	chr13:38925087-38925088	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs376563718	chr13:38925093-38925094	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs190973639	chr13:38925102-38925103	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs570348758	chr13:38925134-38925135	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs368487390	chr13:38925173-38925174	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs17232348	chr13:38925192-38925193	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs556031021	chr13:38925226-38925227	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs574576987	chr13:38925306-38925307	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs533922635	chr13:38925320-38925321	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs553837362	chr13:38925326-38925327	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs576725011	chr13:38925411-38925412	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs199588923	chr13:38925424-38925425	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs56807983	chr13:38925448-38925449	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs183240410	chr13:38925477-38925478	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs562615627	chr13:38925503-38925504	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs144559246	chr13:38925512-38925513	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs11363787	chr13:38925549-38925550	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs541612953	chr13:38925552-38925553	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs561591763	chr13:38925555-38925556	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs527484534	chr13:38925562-38925563	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs547444091	chr13:38925612-38925613	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs563121968	chr13:38925614-38925615	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs200431304	chr13:38925640-38925641	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs7330234	chr13:38925689-38925690	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs146629624	chr13:38925690-38925691	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs188118516	chr13:38925693-38925694	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs570238592	chr13:38925709-38925710	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs536195461	chr13:38925735-38925736	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs73176729	chr13:38925752-38925753	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs372926768	chr13:38925779-38925780	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs566232627	chr13:38925780-38925781	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs192073498	chr13:38925829-38925830	Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs553555475	chr13:38925838-38925839	Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs184618014	chr13:38925839-38925840	Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs539045160	chr13:38925840-38925841	Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs556163029	chr13:38925880-38925881	Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Prostate cancer	21965145	CNVD
Hirschsprung''s Disease	21712996	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Monoclonal gammopathy of undetermined significance	19135901	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Colorectal cancer	21645411	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Attention deficit hyperactivity disorder	22214315	CNVD
Chronic motor tic disorder	22214315	CNVD
Schizophrenia	22214315	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cancer	17440070	CNVD

Chromatin state (count:612 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38922400-38925200	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr13:38922600-38924800	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr13:38922600-38925000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr13:38922600-38925000	Active TSS	K562	blood
5	chr13:38922600-38925200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr13:38922600-38925200	Active TSS	HSMMtube	muscle
7	chr13:38922600-38926000	Active TSS	Right Atrium	heart
8	chr13:38922800-38924800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr13:38922800-38924800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:38922800-38924800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr13:38922800-38924800	Active TSS	Muscle Satellite Cultured Cells	--
12	chr13:38922800-38924800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr13:38922800-38924800	Active TSS	Fetal Kidney	kidney
14	chr13:38922800-38924800	Active TSS	Fetal Stomach	stomach
15	chr13:38922800-38925000	Active TSS	H1 Cell Line	embryonic stem cell
16	chr13:38922800-38925000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr13:38922800-38925000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr13:38922800-38925000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr13:38922800-38925000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr13:38922800-38925000	Active TSS	Aorta	Aorta
21	chr13:38922800-38925000	Active TSS	Fetal Intestine Large	intestine
22	chr13:38922800-38925000	Active TSS	GM12878-XiMat	blood
23	chr13:38922800-38925200	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr13:38922800-38925200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr13:38922800-38925200	Active TSS	NHLF	lung
26	chr13:38922800-38926200	Active TSS	Right Ventricle	heart
27	chr13:38923000-38924800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr13:38923000-38924800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr13:38923000-38924800	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr13:38923000-38924800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr13:38923000-38924800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr13:38923000-38924800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr13:38923000-38924800	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr13:38923000-38924800	Active TSS	Esophagus	oesophagus
35	chr13:38923000-38924800	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr13:38923000-38924800	Active TSS	Small Intestine	intestine
37	chr13:38923000-38924800	Active TSS	Stomach Mucosa	stomach
38	chr13:38923000-38924800	Active TSS	HMEC	breast
39	chr13:38923000-38925000	Active TSS	H9 Cell Line	embryonic stem cell
40	chr13:38923000-38925000	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr13:38923000-38925000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr13:38923000-38925000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr13:38923000-38925000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr13:38923000-38925000	Active TSS	Fetal Muscle Leg	muscle
45	chr13:38923000-38925000	Active TSS	Placenta	Placenta
46	chr13:38923000-38925000	Active TSS	Fetal Thymus	thymus
47	chr13:38923000-38925000	Active TSS	NHDF-Ad	bronchial
48	chr13:38923000-38925200	Active TSS	Colonic Mucosa	Colon
49	chr13:38923000-38925200	Active TSS	Fetal Muscle Trunk	muscle
50	chr13:38923000-38925200	Active TSS	Ovary	ovary

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