Variant report

Variant	nsv519181
Chromosome Location	chr13:50094090-50098376
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr13:50094283-50094322	LNCaP	prostate:	n/a	n/a
2	POLR2A	chr13:50095677-50095751	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr13:50095511-50095843	H1-neurons	neurons:	n/a	n/a
4	STAT3	chr13:50094527-50094672	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:50091935..50095583-chr13:50159811..50161648,3	MCF-7	breast:
2	chr13:50071845..50075663-chr13:50092471..50095842,3	K562	blood:
3	chr13:50017488..50019349-chr13:50091764..50095286,3	MCF-7	breast:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SETDB2-1	chr13:50098221-50098352	NONHSAT033748
2	lnc-SETDB2-1	chr13:50095030-50095076	NONHSAT033746
3	lnc-SETDB2-1	chr13:50096073-50096243	NONHSAT033749
4	lnc-SETDB2-1	chr13:50096179-50096196	NONHSAT033746
5	lnc-SETDB2-1	chr13:50097311-50097377	NONHSAT033750
6	lnc-SETDB2-1	chr13:50097311-50098216	NONHSAT033749
7	lnc-SETDB2-1	chr13:50096092-50096243	NONHSAT033750
8	lnc-SETDB2-1	chr13:50097311-50097377	NONHSAT033748
9	lnc-SETDB2-1	chr13:50096065-50096243	NONHSAT033748
10	lnc-SETDB2-1	chr13:50098221-50098352	NONHSAT033750

No data

Variant related genes	Relation type
PHF11	TF binding region
ENSG00000102547	chromatin interactions
ENSG00000136169	chromatin interactions

Extended variants
information (count: 170 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:170 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17381926	chr13:50094090-50094091	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192744946	chr13:50094093-50094094	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs544923086	chr13:50094120-50094121	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs114259468	chr13:50094173-50094174	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs540190948	chr13:50094182-50094183	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs113131451	chr13:50094183-50094184	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs369883538	chr13:50094187-50094188	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs533662558	chr13:50094207-50094208	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs551789056	chr13:50094223-50094224	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs369995744	chr13:50094243-50094244	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs560267225	chr13:50094248-50094249	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs146288123	chr13:50094276-50094277	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs139158057	chr13:50094288-50094289	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs567133025	chr13:50094318-50094319	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs6561531	chr13:50094321-50094322	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs374166656	chr13:50094332-50094333	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs549708592	chr13:50094335-50094336	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs6561532	chr13:50094372-50094373	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
19	rs538534163	chr13:50094374-50094375	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs375433066	chr13:50094377-50094378	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs372298490	chr13:50094427-50094428	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs543681746	chr13:50094430-50094431	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs138465928	chr13:50094435-50094436	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs536360303	chr13:50094478-50094479	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs554655903	chr13:50094495-50094496	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs113989419	chr13:50094590-50094591	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs576200893	chr13:50094599-50094600	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs372602658	chr13:50094600-50094601	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs61960010	chr13:50094610-50094611	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs562927688	chr13:50094618-50094619	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs368958280	chr13:50094635-50094636	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs372204171	chr13:50094662-50094663	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs112060852	chr13:50094669-50094670	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs533951870	chr13:50094671-50094672	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs184631454	chr13:50094693-50094694	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs7986462	chr13:50094709-50094710	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs142030562	chr13:50094743-50094744	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs549069174	chr13:50094789-50094790	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs561094345	chr13:50094872-50094873	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs200207713	chr13:50094899-50094900	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs531676386	chr13:50094922-50094923	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs549975416	chr13:50094948-50094949	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs571325964	chr13:50095002-50095003	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs376876588	chr13:50095052-50095053	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
45	rs201791460	chr13:50095064-50095065	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs532452248	chr13:50095067-50095068	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
47	rs547330746	chr13:50095076-50095077	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs200240376	chr13:50095077-50095078	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs375033756	chr13:50095094-50095095	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs367664043	chr13:50095101-50095102	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:121)

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
Chronic lymphocytic leukemia	21670202	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
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
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21990379	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute promyelocytic leukemia	19109227	CNVD

Chromatin state (count:206 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50070800-50095600	Weak transcription	Fetal Kidney	kidney
2	chr13:50075000-50102400	Weak transcription	NH-A	brain
3	chr13:50075000-50143800	Weak transcription	Small Intestine	intestine
4	chr13:50077600-50114000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr13:50080000-50107000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr13:50080200-50104600	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr13:50080600-50098000	Strong transcription	Primary B cells from cord blood	blood
8	chr13:50080600-50101000	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr13:50080600-50104600	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr13:50082200-50096200	Weak transcription	HUVEC	blood vessel
11	chr13:50083600-50103600	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr13:50083800-50099600	Strong transcription	Primary T cells from cord blood	blood
13	chr13:50084000-50104800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr13:50084800-50104200	Strong transcription	GM12878-XiMat	blood
15	chr13:50085000-50098200	Strong transcription	Dnd41	blood
16	chr13:50085000-50099600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr13:50085400-50104800	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr13:50085800-50099000	Weak transcription	Hela-S3	cervix
19	chr13:50086400-50096200	Strong transcription	Primary B cells from peripheral blood	blood
20	chr13:50086400-50097200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr13:50086400-50113600	Weak transcription	Brain Angular Gyrus	brain
22	chr13:50086600-50098400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr13:50086600-50101600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr13:50086600-50103200	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr13:50086600-50106200	Strong transcription	Fetal Thymus	thymus
26	chr13:50086600-50108800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr13:50086600-50114200	Weak transcription	Fetal Brain Female	brain
28	chr13:50086800-50096200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr13:50086800-50101600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr13:50087400-50099400	Strong transcription	Liver	Liver
31	chr13:50087400-50099400	Strong transcription	Placenta	Placenta
32	chr13:50087600-50095800	Strong transcription	Duodenum Mucosa	Duodenum
33	chr13:50087800-50095800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
34	chr13:50087800-50098000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr13:50087800-50103600	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr13:50088200-50113600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr13:50088400-50151000	Weak transcription	Psoas Muscle	Psoas
38	chr13:50088600-50134200	Weak transcription	Stomach Mucosa	stomach
39	chr13:50088800-50095600	Weak transcription	HMEC	breast
40	chr13:50088800-50097600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr13:50089200-50107400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr13:50089400-50114200	Weak transcription	Colon Smooth Muscle	Colon
43	chr13:50089600-50094600	Weak transcription	HSMM	muscle
44	chr13:50089800-50101200	Weak transcription	NHEK	skin
45	chr13:50090000-50096200	Weak transcription	Brain Hippocampus Middle	brain
46	chr13:50090000-50101200	Weak transcription	Left Ventricle	heart
47	chr13:50090000-50113600	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr13:50090000-50122800	Weak transcription	Ovary	ovary
49	chr13:50090000-50123600	Weak transcription	Esophagus	oesophagus
50	chr13:50090200-50101000	Weak transcription	Brain Anterior Caudate	brain

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