Variant report

Variant	nsv1040709
Chromosome Location	chr13:92173603-92318362
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:232)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:232 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr13:92007364..92011025-chr13:92217645..92220635,3	K562	blood:
2	chr13:92009446..92011873-chr13:92285779..92287489,2	K562	blood:
3	chr13:92163408..92165525-chr13:92171224..92173703,2	K562	blood:
4	chr13:92230040..92232872-chr13:92241725..92244937,3	K562	blood:
5	chr13:91998683..92002354-chr13:92190379..92194813,6	K562	blood:
6	chr13:92260009..92262228-chr13:92270548..92273366,2	K562	blood:
7	chr13:92245236..92246782-chr13:92265114..92267999,2	K562	blood:
8	chr13:92184682..92187279-chr13:92198091..92201088,2	K562	blood:
9	chr13:92064271..92067451-chr13:92214102..92216956,3	K562	blood:
10	chr13:92314444..92317581-chr13:92320216..92321862,3	K562	blood:
11	chr13:92220200..92222045-chr13:92225893..92228117,2	K562	blood:
12	chr13:92193090..92195790-chr13:92201867..92204371,2	K562	blood:
13	chr13:92186485..92189020-chr13:92193500..92196051,3	K562	blood:
14	chr13:92271343..92273081-chr13:92275207..92276860,2	K562	blood:
15	chr13:92159491..92161501-chr13:92176465..92179053,2	K562	blood:
16	chr13:92245236..92246782-chr13:92265114..92267999,2	K562	blood:
17	chr13:92009349..92012461-chr13:92224404..92227397,3	K562	blood:
18	chr13:92297130..92298943-chr13:92307852..92310452,2	K562	blood:
19	chr13:92236216..92239196-chr13:92246077..92248763,2	K562	blood:
20	chr13:92283995..92287904-chr13:92288283..92291750,3	K562	blood:
21	chr13:92283995..92286774-chr13:92288124..92290594,3	K562	blood:
22	chr13:92271797..92272395-chr13:92305794..92306408,2	K562	blood:
23	chr13:92011668..92014264-chr13:92248791..92250619,2	K562	blood:
24	chr13:92283995..92286774-chr13:92288124..92290594,3	K562	blood:
25	chr13:92006928..92009132-chr13:92273923..92276754,2	K562	blood:
26	chr13:92293314..92295446-chr13:92296832..92298493,2	K562	blood:
27	chr13:92254207..92255838-chr13:92259817..92262000,2	K562	blood:
28	chr13:92236165..92237762-chr13:92267223..92269293,2	K562	blood:
29	chr13:92259665..92261733-chr13:92263438..92266415,2	K562	blood:
30	chr13:92000098..92002151-chr13:92220114..92222014,2	K562	blood:
31	chr13:92028387..92031350-chr13:92205287..92208188,2	K562	blood:
32	chr13:91999747..92001279-chr13:92313368..92315188,2	K562	blood:
33	chr13:92196711..92199181-chr13:92203111..92205977,3	K562	blood:
34	chr13:92182876..92184485-chr13:92186803..92188669,2	K562	blood:
35	chr13:92166463..92168789-chr13:92178244..92180060,2	K562	blood:
36	chr13:92297056..92300246-chr13:92301325..92305110,3	K562	blood:
37	chr13:92007765..92009366-chr13:92214136..92216197,2	K562	blood:
38	chr13:92302789..92304605-chr13:92305395..92308215,3	K562	blood:
39	chr13:92005453..92007764-chr13:92312493..92314685,2	K562	blood:
40	chr13:91999841..92001994-chr13:92177126..92180642,3	K562	blood:
41	chr13:91999422..92001963-chr13:92245508..92247881,2	K562	blood:
42	chr13:91998570..92001395-chr13:92249763..92252291,3	K562	blood:
43	chr13:92262332..92265474-chr13:92267151..92270274,3	K562	blood:
44	chr13:92243681..92245220-chr13:92248904..92251183,2	K562	blood:
45	chr13:92243534..92246782-chr13:92263932..92267998,4	K562	blood:
46	chr13:92000817..92003388-chr13:92213282..92215654,2	K562	blood:
47	chr13:92006631..92008993-chr13:92217984..92219908,2	K562	blood:
48	chr13:92200166..92202892-chr13:92208902..92210980,2	K562	blood:
49	chr13:92262371..92267129-chr13:92268631..92272184,6	K562	blood:
50	chr13:92238105..92241070-chr13:92253947..92255576,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000215417	chromatin interactions
ENSG00000179399	chromatin interactions

Extended variants
information (count: 5137 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:5137 , 50 per page) page: 1 2 3 4 5 6 7 ... 103

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184855810	chr13:92173646-92173647	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs111701649	chr13:92173698-92173699	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs540107334	chr13:92173735-92173736	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs188689958	chr13:92173760-92173761	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs576814493	chr13:92173771-92173772	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs546210249	chr13:92173848-92173849	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs369169280	chr13:92173912-92173913	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs150360140	chr13:92173924-92173925	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs75410050	chr13:92173925-92173926	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs548402853	chr13:92173953-92173954	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs9515934	chr13:92173992-92173993	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs73606496	chr13:92174081-92174082	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs147613388	chr13:92174089-92174090	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs571189611	chr13:92174131-92174132	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs538251815	chr13:92174138-92174139	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs76304467	chr13:92174147-92174148	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs373848061	chr13:92174167-92174168	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs537897077	chr13:92174168-92174169	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs554263856	chr13:92174171-92174172	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs181465672	chr13:92174273-92174274	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs544773115	chr13:92174294-92174295	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs185761521	chr13:92174302-92174303	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs577118790	chr13:92174312-92174313	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs545868119	chr13:92174315-92174316	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs190561836	chr13:92174361-92174362	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs576362676	chr13:92174378-92174379	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs542282013	chr13:92174386-92174387	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs562197368	chr13:92174424-92174425	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs527864855	chr13:92174461-92174462	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs142117122	chr13:92174480-92174481	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs564760641	chr13:92174503-92174504	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs533634785	chr13:92174548-92174549	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs182229229	chr13:92174570-92174571	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs146198763	chr13:92174630-92174631	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs568805964	chr13:92174645-92174646	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs576879149	chr13:92174719-92174720	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs545829507	chr13:92174724-92174725	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs370352474	chr13:92174732-92174733	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs112041384	chr13:92174773-92174774	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs138903066	chr13:92174800-92174801	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs562500240	chr13:92174817-92174818	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs187189791	chr13:92174821-92174822	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs567844143	chr13:92174856-92174857	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs533735398	chr13:92174884-92174885	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs564944953	chr13:92174890-92174891	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs111650555	chr13:92174905-92174906	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs202236194	chr13:92174919-92174920	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs570566664	chr13:92174943-92174944	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs539674976	chr13:92174965-92174966	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs191016499	chr13:92175000-92175001	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Osteosarcoma	21215367	CNVD

Chromatin state (count:169 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92172800-92173800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr13:92173400-92174000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr13:92173400-92174000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr13:92173600-92174000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr13:92173600-92174200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr13:92174000-92174200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr13:92183400-92184400	Active TSS	Right Atrium	heart
8	chr13:92185800-92186400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr13:92191000-92195000	Enhancers	Fetal Intestine Large	intestine
10	chr13:92191200-92191400	Enhancers	K562	blood
11	chr13:92191400-92192000	Flanking Active TSS	K562	blood
12	chr13:92191400-92193000	Enhancers	HepG2	liver
13	chr13:92191400-92194800	Enhancers	Fetal Intestine Small	intestine
14	chr13:92191600-92192000	Enhancers	Primary hematopoietic stem cells	blood
15	chr13:92191600-92192800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr13:92191600-92193800	Enhancers	Fetal Lung	lung
17	chr13:92191800-92192800	Enhancers	Fetal Stomach	stomach
18	chr13:92191800-92193200	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr13:92191800-92193200	Enhancers	Small Intestine	intestine
20	chr13:92192000-92192600	Active TSS	K562	blood
21	chr13:92192200-92192600	Enhancers	Fetal Kidney	kidney
22	chr13:92192200-92192800	Enhancers	Liver	Liver
23	chr13:92192200-92193000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr13:92192200-92193000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr13:92192400-92192600	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr13:92192400-92193200	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr13:92192600-92193200	Flanking Active TSS	K562	blood
28	chr13:92193200-92193800	Enhancers	K562	blood
29	chr13:92193800-92194400	Weak transcription	K562	blood
30	chr13:92194400-92194800	ZNF genes & repeats	K562	blood
31	chr13:92195800-92196600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr13:92196000-92196600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr13:92196600-92197200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr13:92196600-92197200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr13:92197000-92197400	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr13:92197000-92197400	Enhancers	Brain Angular Gyrus	brain
37	chr13:92197000-92197400	Enhancers	Brain Anterior Caudate	brain
38	chr13:92197000-92197400	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr13:92197200-92197400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr13:92197200-92197400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr13:92199200-92199600	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr13:92208800-92210800	Weak transcription	Right Atrium	heart
43	chr13:92210800-92211000	ZNF genes & repeats	Right Atrium	heart
44	chr13:92211000-92215800	Weak transcription	Right Atrium	heart
45	chr13:92215800-92216200	ZNF genes & repeats	Right Atrium	heart
46	chr13:92216200-92216400	Enhancers	Right Atrium	heart
47	chr13:92216200-92216600	Enhancers	Fetal Brain Male	brain
48	chr13:92224800-92225200	Enhancers	NH-A	brain
49	chr13:92225200-92225600	Enhancers	Brain Substantia Nigra	brain
50	chr13:92225200-92225600	Flanking Active TSS	NH-A	brain

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