Variant report

Variant	nsv976235
Chromosome Location	chr13:50501048-50509556
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:50509071..50511034-chr13:50570092..50572951,3	K562	blood:
2	chr13:50507293..50510312-chr13:50568081..50571220,3	MCF-7	breast:
3	chr13:50503635..50507616-chr13:50508303..50511854,6	K562	blood:
4	chr13:50486918..50489140-chr13:50503061..50505201,2	K562	blood:
5	chr13:50504120..50506142-chr19:54703000..54704992,2	K562	blood:
6	chr13:50503267..50506681-chr13:50507802..50511782,3	K562	blood:
7	chr13:50509110..50509629-chr9:91933240..91933853,2	Hela-S3	cervix:
8	chr13:50495816..50497958-chr13:50500274..50502867,2	K562	blood:
9	chr13:50494914..50497363-chr13:50507125..50509301,2	MCF-7	breast:
10	chr13:50365136..50367359-chr13:50509492..50511604,3	MCF-7	breast:
11	chr13:50505920..50507836-chr13:50548605..50550830,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000264864	chromatin interactions
ENSG00000102753	chromatin interactions
ENSG00000187742	chromatin interactions
ENSG00000223660	chromatin interactions
ENSG00000204977	chromatin interactions
ENSG00000123178	chromatin interactions
ENSG00000170889	chromatin interactions

Extended variants
information (count: 297 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555283899	chr13:50501061-50501062	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576834627	chr13:50501168-50501169	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566490687	chr13:50501195-50501196	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189229283	chr13:50501215-50501216	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74676320	chr13:50501232-50501233	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191266816	chr13:50501241-50501242	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577223148	chr13:50501272-50501273	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541166618	chr13:50501315-50501316	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559838388	chr13:50501347-50501348	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545381445	chr13:50501357-50501358	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141649135	chr13:50501358-50501359	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370365739	chr13:50501396-50501397	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530728962	chr13:50501397-50501398	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183785776	chr13:50501451-50501452	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371840145	chr13:50501452-50501453	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs144516575	chr13:50501460-50501461	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187067378	chr13:50501519-50501520	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111521328	chr13:50501538-50501539	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191838495	chr13:50501555-50501556	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375263264	chr13:50501595-50501596	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557016035	chr13:50501641-50501642	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570325993	chr13:50501718-50501719	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7490248	chr13:50501726-50501727	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114089985	chr13:50501743-50501744	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559252093	chr13:50501783-50501784	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370181879	chr13:50501800-50501801	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372223178	chr13:50501809-50501810	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374754312	chr13:50501819-50501820	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184290942	chr13:50501825-50501826	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541646019	chr13:50501869-50501870	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs41308548	chr13:50501880-50501881	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs11617754	chr13:50501980-50501981	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs569490381	chr13:50501981-50501982	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541787856	chr13:50502016-50502017	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538514805	chr13:50502059-50502060	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs148401871	chr13:50502064-50502065	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530669070	chr13:50502073-50502074	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370845592	chr13:50502113-50502114	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs41300572	chr13:50502114-50502115	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545775893	chr13:50502118-50502119	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368798000	chr13:50502138-50502139	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs137909260	chr13:50502156-50502157	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564442583	chr13:50502160-50502161	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs200102113	chr13:50502169-50502170	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375837588	chr13:50502191-50502192	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557956270	chr13:50502215-50502216	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs371072896	chr13:50502230-50502231	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374378163	chr13:50502268-50502269	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs367552412	chr13:50502271-50502272	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369230015	chr13:50502273-50502274	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:124)

Disease	PMID	Source
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
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	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
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
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Melanoma	18172304	CNVD
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Myelofibrosis	22110671	CNVD
Hereditary prostate cancer	22028916	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Prostate cancer	17217626	CNVD
Ovarian cancer	21781307	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21990379	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:423 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50479600-50508600	Weak transcription	K562	blood
2	chr13:50480800-50508800	Weak transcription	Fetal Brain Male	brain
3	chr13:50481800-50509600	Weak transcription	Right Ventricle	heart
4	chr13:50482600-50509600	Weak transcription	Primary B cells from cord blood	blood
5	chr13:50484000-50509600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr13:50484400-50501800	Weak transcription	HSMMtube	muscle
7	chr13:50484400-50509400	Weak transcription	Fetal Kidney	kidney
8	chr13:50484600-50509600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr13:50485800-50501800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr13:50485800-50506200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr13:50485800-50509200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr13:50486000-50503400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr13:50486000-50503400	Strong transcription	Liver	Liver
14	chr13:50486000-50509400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr13:50486400-50509600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr13:50486600-50508800	Weak transcription	Hela-S3	cervix
17	chr13:50487400-50509400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr13:50487600-50509400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr13:50488400-50509600	Weak transcription	Colonic Mucosa	Colon
20	chr13:50489200-50509600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr13:50489200-50510000	Weak transcription	Spleen	Spleen
22	chr13:50489600-50502400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr13:50489600-50503200	Strong transcription	Adipose Nuclei	Adipose
24	chr13:50489600-50504200	Strong transcription	Fetal Intestine Large	intestine
25	chr13:50490000-50501400	Weak transcription	Fetal Thymus	thymus
26	chr13:50490200-50502800	Strong transcription	Duodenum Mucosa	Duodenum
27	chr13:50490200-50503000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr13:50490800-50502000	Weak transcription	Primary T cells from cord blood	blood
29	chr13:50490800-50506200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr13:50491200-50507000	Weak transcription	Brain Angular Gyrus	brain
31	chr13:50491800-50501200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr13:50492200-50504600	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr13:50492200-50509400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr13:50492400-50509600	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr13:50492600-50508800	Weak transcription	HUVEC	blood vessel
36	chr13:50492800-50509400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr13:50492800-50509600	Weak transcription	Aorta	Aorta
38	chr13:50493400-50502000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr13:50493400-50509400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr13:50493800-50509600	Weak transcription	Lung	lung
41	chr13:50494000-50502800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr13:50494200-50508800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr13:50494400-50508800	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr13:50495400-50509600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr13:50495600-50501800	Weak transcription	Ovary	ovary
46	chr13:50495800-50501600	Weak transcription	NH-A	brain
47	chr13:50495800-50508400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr13:50495800-50508800	Weak transcription	Brain Substantia Nigra	brain
49	chr13:50495800-50508800	Weak transcription	Fetal Brain Female	brain
50	chr13:50495800-50508800	Weak transcription	HepG2	liver

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