Variant report

Variant	nsv900081
Chromosome Location	chr13:52406404-52426096
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:26)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:52388956..52389914-chr13:52406314..52407314,7	MCF-7	breast:
2	chr13:51699788..51700708-chr13:52406162..52406892,2	K562	blood:
3	chr13:52419819..52421684-chr13:52438948..52441097,2	MCF-7	breast:
4	chr13:52405263..52408313-chr13:52419489..52422103,3	MCF-7	breast:
5	chr13:52405263..52408313-chr13:52419489..52422103,3	MCF-7	breast:
6	chr13:52390628..52392795-chr13:52410720..52413468,2	MCF-7	breast:
7	chr13:52422501..52424987-chr13:52427770..52430154,2	MCF-7	breast:
8	chr13:52376065..52377882-chr13:52418966..52420740,2	MCF-7	breast:
9	chr13:52409628..52411128-chr17:41400803..41402327,2	K562	blood:
10	chr13:52406800..52409104-chr13:52702161..52704038,2	MCF-7	breast:
11	chr13:52416388..52418055-chr13:52496195..52498619,2	K562	blood:
12	chr13:52026319..52027835-chr13:52419414..52421955,2	K562	blood:
13	chr13:52403949..52406430-chr13:52408338..52410301,2	K562	blood:
14	chr13:52389367..52389950-chr13:52418848..52419521,2	K562	blood:
15	chr13:52409628..52411148-chr17:41466210..41467861,2	MCF-7	breast:
16	chr13:52376906..52379348-chr13:52423964..52427495,3	MCF-7	breast:
17	chr13:52389477..52391775-chr13:52406707..52408443,2	MCF-7	breast:
18	chr13:52421639..52423143-chr13:52479178..52481096,2	MCF-7	breast:
19	chr13:52418376..52421137-chr13:52421569..52423678,2	MCF-7	breast:
20	chr13:52389353..52390463-chr13:52406266..52407235,5	MCF-7	breast:
21	chr13:52008930..52009585-chr13:52406627..52407213,2	MCF-7	breast:
22	chr13:52402539..52404938-chr13:52405246..52407174,2	MCF-7	breast:
23	chr13:52409628..52411128-chr6:142364817..142366324,2	MCF-7	breast:
24	chr13:52398927..52403579-chr13:52421576..52424929,4	K562	blood:
25	chr13:52403949..52406430-chr13:52408338..52410301,2	K562	blood:
26	chr13:52418376..52421137-chr13:52421569..52423678,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DHRS12-3	chr13:52407121-52407275	l_850_chr13:52405280-52407275_testes
2	lnc-DHRS12-1	chr13:52412609-52412689	ENSG00000246013
3	lnc-DHRS12-1	chr13:52419152-52419286	ENSG00000246013

No data

Variant related genes	Relation type
ENSG00000102796	chromatin interactions
ENSG00000197168	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000102786	chromatin interactions
ENSG00000236778	chromatin interactions
ENSG00000231856	chromatin interactions
MFN2	miRNA target sites
C14orf147	miRNA target sites

Extended variants
information (count: 686 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:686 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4354822	chr13:52406404-52406405	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs541914483	chr13:52406408-52406409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530656497	chr13:52406421-52406422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs520968	chr13:52406449-52406450	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs564266367	chr13:52406530-52406531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2031994	chr13:52406553-52406554	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs546692016	chr13:52406554-52406555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181029181	chr13:52406664-52406665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535776135	chr13:52406725-52406726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138500942	chr13:52406793-52406794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs58986039	chr13:52406814-52406815	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs150656028	chr13:52406817-52406818	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs376709030	chr13:52406827-52406828	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs2181890	chr13:52406844-52406845	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs539387894	chr13:52406868-52406869	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs552704965	chr13:52406905-52406906	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs541740690	chr13:52406916-52406917	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs60634067	chr13:52406920-52406921	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs560898713	chr13:52406937-52406938	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs561679777	chr13:52407006-52407007	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs77801215	chr13:52407025-52407026	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs58763654	chr13:52407096-52407097	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs80188253	chr13:52407134-52407135	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs533274157	chr13:52407203-52407204	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs59340458	chr13:52407221-52407222	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs560284705	chr13:52407223-52407224	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs529348228	chr13:52407224-52407225	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs549682827	chr13:52407253-52407254	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs75109636	chr13:52407261-52407262	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs183787513	chr13:52407268-52407269	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs376672015	chr13:52407319-52407320	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs371276292	chr13:52407328-52407329	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs543452371	chr13:52407345-52407346	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs188519089	chr13:52407349-52407350	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs553071532	chr13:52407409-52407410	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs56023833	chr13:52407463-52407464	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs535106923	chr13:52407512-52407513	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs377160577	chr13:52407527-52407528	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs145226664	chr13:52407547-52407548	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs377105819	chr13:52407564-52407565	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs575184835	chr13:52407580-52407581	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs543962371	chr13:52407592-52407593	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs141053726	chr13:52407601-52407602	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs4943029	chr13:52407605-52407606	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
45	rs186859104	chr13:52407645-52407646	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs540362745	chr13:52407698-52407699	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs562151384	chr13:52407716-52407717	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs552462011	chr13:52407735-52407736	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs143972221	chr13:52407750-52407751	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs140278592	chr13:52407793-52407794	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
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
Acute lymphoblastic leukemia	22237106	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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	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
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21990379	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD

Chromatin state (count:340 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52393600-52418600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:52401200-52407600	Weak transcription	Lung	lung
3	chr13:52401600-52419200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr13:52401800-52406600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr13:52402800-52412800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr13:52404400-52410200	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr13:52404800-52413800	Weak transcription	Fetal Intestine Small	intestine
8	chr13:52405600-52406800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr13:52405600-52407400	Enhancers	Primary T cells fromperipheralblood	blood
10	chr13:52405800-52406800	Enhancers	Primary T cells from cord blood	blood
11	chr13:52406000-52406800	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr13:52406000-52407000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr13:52406000-52407000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr13:52406000-52407000	Enhancers	Fetal Heart	heart
15	chr13:52406000-52407400	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr13:52406000-52409200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr13:52406200-52406600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr13:52406200-52406600	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr13:52406200-52406600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr13:52406200-52406800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr13:52406200-52406800	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr13:52406200-52406800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr13:52406200-52406800	Enhancers	Fetal Thymus	thymus
24	chr13:52406200-52407000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr13:52406200-52407000	Enhancers	Left Ventricle	heart
26	chr13:52406200-52407200	Enhancers	Primary B cells from cord blood	blood
27	chr13:52406200-52407200	Enhancers	Primary B cells from peripheral blood	blood
28	chr13:52406200-52407200	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr13:52406200-52407200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr13:52406200-52408200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr13:52406200-52409200	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr13:52406400-52406600	Enhancers	Duodenum Mucosa	Duodenum
33	chr13:52406400-52406800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr13:52406400-52407000	Enhancers	GM12878-XiMat	blood
35	chr13:52406400-52407400	Enhancers	Primary hematopoietic stem cells	blood
36	chr13:52406600-52407000	Enhancers	Stomach Smooth Muscle	stomach
37	chr13:52406600-52414200	Weak transcription	Duodenum Mucosa	Duodenum
38	chr13:52406800-52408000	Weak transcription	Primary T cells from cord blood	blood
39	chr13:52406800-52408000	Weak transcription	Fetal Thymus	thymus
40	chr13:52407000-52407200	Bivalent Enhancer	GM12878-XiMat	blood
41	chr13:52407000-52408000	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr13:52407000-52408200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr13:52407200-52407600	Weak transcription	Primary B cells from cord blood	blood
44	chr13:52407400-52407800	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr13:52407400-52407800	Weak transcription	Primary hematopoietic stem cells	blood
46	chr13:52407400-52407800	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr13:52407600-52407800	Enhancers	Lung	lung
48	chr13:52407600-52409400	Enhancers	Primary B cells from cord blood	blood
49	chr13:52407800-52408600	Enhancers	Primary T cells fromperipheralblood	blood
50	chr13:52407800-52408800	Enhancers	Monocytes-CD14+_RO01746	blood

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