Variant report

Variant	nsv826637
Chromosome Location	chr13:50098210-50099892
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr13:50098951-50099551	Hela-S3	cervix:	n/a	n/a
2	NRF1	chr13:50099207-50099231	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr13:50099352-50099516	HepG2	liver:	n/a	n/a
4	RFX5	chr13:50099064-50099123	Hela-S3	cervix:	n/a	n/a
5	SMC3	chr13:50099037-50099189	Hela-S3	cervix:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SETDB2-1	chr13:50097311-50098216	NONHSAT033749
2	lnc-SETDB2-1	chr13:50098221-50098352	NONHSAT033750
3	lnc-SETDB2-1	chr13:50098221-50098352	NONHSAT033748

Variant related genes	Relation type
PHF11	TF binding region

Extended variants
information (count: 71 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374311581	chr13:50098234-50098235	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs376173451	chr13:50098253-50098254	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs200469144	chr13:50098277-50098278	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs542089017	chr13:50098301-50098302	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs370297463	chr13:50098355-50098356	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199502694	chr13:50098375-50098376	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7332573	chr13:50098376-50098377	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs144805189	chr13:50098408-50098409	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs202127657	chr13:50098412-50098413	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs202229929	chr13:50098414-50098415	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540334624	chr13:50098416-50098417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149031834	chr13:50098422-50098423	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138441280	chr13:50098423-50098424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563933717	chr13:50098432-50098433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79548641	chr13:50098436-50098437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77412505	chr13:50098437-50098438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74634646	chr13:50098439-50098440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528028157	chr13:50098441-50098442	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539835856	chr13:50098524-50098525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561486351	chr13:50098609-50098610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs59326982	chr13:50098614-50098615	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111478856	chr13:50098633-50098634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181352610	chr13:50098641-50098642	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs386770871	chr13:50098703-50098704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs67307832	chr13:50098704-50098705	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs560136746	chr13:50098714-50098715	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185780282	chr13:50098758-50098759	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573287111	chr13:50098767-50098768	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374010038	chr13:50098771-50098772	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144640717	chr13:50098863-50098864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190630412	chr13:50098891-50098892	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7337718	chr13:50098902-50098903	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs535933145	chr13:50098910-50098911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs61960011	chr13:50098927-50098928	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs374522886	chr13:50098961-50098962	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs7139494	chr13:50098966-50098967	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs147870561	chr13:50099006-50099007	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs141681917	chr13:50099014-50099015	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs572791690	chr13:50099023-50099024	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs183698165	chr13:50099033-50099034	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs147060141	chr13:50099062-50099063	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs117926590	chr13:50099101-50099102	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs528976183	chr13:50099152-50099153	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs74520758	chr13:50099157-50099158	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs7338494	chr13:50099188-50099189	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs531086968	chr13:50099211-50099212	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs544192608	chr13:50099217-50099218	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs149008644	chr13:50099223-50099224	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs117103510	chr13:50099268-50099269	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs571205839	chr13:50099297-50099298	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 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:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50075000-50102400	Weak transcription	NH-A	brain
2	chr13:50075000-50143800	Weak transcription	Small Intestine	intestine
3	chr13:50077600-50114000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr13:50080000-50107000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr13:50080200-50104600	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr13:50080600-50101000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr13:50080600-50104600	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr13:50083600-50103600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr13:50083800-50099600	Strong transcription	Primary T cells from cord blood	blood
10	chr13:50084000-50104800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr13:50084800-50104200	Strong transcription	GM12878-XiMat	blood
12	chr13:50085000-50099600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr13:50085400-50104800	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr13:50085800-50099000	Weak transcription	Hela-S3	cervix
15	chr13:50086400-50113600	Weak transcription	Brain Angular Gyrus	brain
16	chr13:50086600-50098400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr13:50086600-50101600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr13:50086600-50103200	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr13:50086600-50106200	Strong transcription	Fetal Thymus	thymus
20	chr13:50086600-50108800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr13:50086600-50114200	Weak transcription	Fetal Brain Female	brain
22	chr13:50086800-50101600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr13:50087400-50099400	Strong transcription	Liver	Liver
24	chr13:50087400-50099400	Strong transcription	Placenta	Placenta
25	chr13:50087800-50103600	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr13:50088200-50113600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr13:50088400-50151000	Weak transcription	Psoas Muscle	Psoas
28	chr13:50088600-50134200	Weak transcription	Stomach Mucosa	stomach
29	chr13:50089200-50107400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr13:50089400-50114200	Weak transcription	Colon Smooth Muscle	Colon
31	chr13:50089800-50101200	Weak transcription	NHEK	skin
32	chr13:50090000-50101200	Weak transcription	Left Ventricle	heart
33	chr13:50090000-50113600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr13:50090000-50122800	Weak transcription	Ovary	ovary
35	chr13:50090000-50123600	Weak transcription	Esophagus	oesophagus
36	chr13:50090200-50101000	Weak transcription	Brain Anterior Caudate	brain
37	chr13:50090200-50101200	Weak transcription	Brain Substantia Nigra	brain
38	chr13:50090200-50114200	Weak transcription	Aorta	Aorta
39	chr13:50090200-50117800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr13:50090400-50106600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr13:50090400-50113400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr13:50090400-50114200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr13:50090800-50104200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr13:50091000-50104000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr13:50091000-50114200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr13:50091400-50138800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr13:50091800-50107600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr13:50092000-50098600	Weak transcription	Fetal Intestine Small	intestine
49	chr13:50092000-50101200	Strong transcription	NHDF-Ad	bronchial
50	chr13:50092000-50102200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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