Variant report

Variant	esv3508345
Chromosome Location	chr13:91901051-91905549
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:12)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:91903377..91907424-chr13:91999812..92002571,4	K562	blood:
2	chr13:91887562..91890351-chr13:91903749..91906128,3	K562	blood:
3	chr13:91901360..91903216-chr13:91999281..92001783,2	K562	blood:
4	chr13:91905342..91907937-chr13:91915551..91917993,2	K562	blood:
5	chr13:91899592..91901099-chr13:91998004..91999669,2	K562	blood:
6	chr11:2326274..2326822-chr13:91904534..91905054,2	MCF-7	breast:
7	chr13:91899198..91903268-chr13:91905718..91908009,3	K562	blood:
8	chr13:91902307..91904789-chr13:92006399..92008765,3	K562	blood:
9	chr13:91892375..91894811-chr13:91902277..91905076,2	K562	blood:
10	chr13:91897761..91904877-chr13:91998004..92004019,9	K562	blood:
11	chr13:91887562..91890351-chr13:91903749..91905859,2	K562	blood:
12	chr13:91901797..91903631-chr13:91908143..91910086,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPC5-5	chr13:91903888-91903985	NONHSAT034663

No data

Variant related genes	Relation type
ENSG00000215417	chromatin interactions

Extended variants
information (count: 170 )
Associated
traits (count: 86 )

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	rs183925553	chr13:91901111-91901112	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs370481176	chr13:91901142-91901143	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs557569854	chr13:91901159-91901160	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs577725787	chr13:91901297-91901298	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs143059719	chr13:91901330-91901331	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs115266678	chr13:91901371-91901372	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs573575451	chr13:91901404-91901405	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs189541457	chr13:91901447-91901448	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs375692014	chr13:91901453-91901454	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs573159726	chr13:91901455-91901456	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs545446866	chr13:91901493-91901494	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs565226968	chr13:91901508-91901509	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs531080887	chr13:91901573-91901574	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs193010861	chr13:91901580-91901581	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs548623772	chr13:91901584-91901585	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs530382948	chr13:91901610-91901611	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs2840273	chr13:91901620-91901621	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs565622853	chr13:91901671-91901672	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs184995564	chr13:91901672-91901673	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs551396917	chr13:91901713-91901714	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs571249346	chr13:91901718-91901719	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs7982341	chr13:91901719-91901720	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs540550841	chr13:91901720-91901721	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs72638991	chr13:91901726-91901727	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs567138696	chr13:91901775-91901776	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs369425595	chr13:91901783-91901784	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs148254706	chr13:91901789-91901790	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs371588423	chr13:91901810-91901811	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs112312633	chr13:91901878-91901879	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs76835542	chr13:91901908-91901909	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs573134184	chr13:91901916-91901917	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs141258465	chr13:91901920-91901921	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs9583905	chr13:91901937-91901938	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs547385380	chr13:91901939-91901940	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs146285547	chr13:91901947-91901948	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs544734626	chr13:91902001-91902002	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs561441043	chr13:91902013-91902014	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs138138565	chr13:91902024-91902025	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs12184537	chr13:91902044-91902045	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs72638992	chr13:91902077-91902078	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs568417265	chr13:91902078-91902079	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs532884532	chr13:91902080-91902081	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs551065497	chr13:91902172-91902173	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs372666736	chr13:91902209-91902210	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs571254314	chr13:91902213-91902214	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs190276616	chr13:91902231-91902232	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs550266261	chr13:91902318-91902319	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs377335519	chr13:91902320-91902321	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs1983980	chr13:91902331-91902332	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs376889697	chr13:91902390-91902391	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:91894200-91902600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr13:91898000-91902800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr13:91900800-91901400	Enhancers	Lung	lung
4	chr13:91901000-91902000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr13:91901200-91901400	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr13:91901200-91902000	Enhancers	Stomach Mucosa	stomach
7	chr13:91901200-91902200	Enhancers	Fetal Intestine Large	intestine
8	chr13:91901200-91902200	Enhancers	Fetal Intestine Small	intestine
9	chr13:91902000-91902200	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr13:91902000-91902800	Enhancers	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links