Variant report

Variant	nsv1045669
Chromosome Location	chr13:92111663-92245308
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:214)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:214 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr13:92106168..92109091-chr13:92193119..92195510,2	K562	blood:
2	chr13:92162718..92164908-chr13:92171224..92173574,2	K562	blood:
3	chr13:91999898..92002577-chr13:92158131..92160027,2	K562	blood:
4	chr13:92177586..92180644-chr13:92183133..92185901,4	K562	blood:
5	chr13:92228802..92230476-chr13:92232777..92234570,2	K562	blood:
6	chr13:92107891..92113642-chr13:92115270..92120759,5	K562	blood:
7	chr13:92163408..92165525-chr13:92171224..92173703,2	K562	blood:
8	chr13:92228802..92230476-chr13:92232777..92234570,2	K562	blood:
9	chr13:92013441..92015656-chr13:92220100..92222208,2	K562	blood:
10	chr13:92150607..92154895-chr13:92156123..92159615,3	K562	blood:
11	chr13:92195959..92198625-chr13:92200730..92202356,2	K562	blood:
12	chr13:92006867..92008731-chr13:92240311..92242037,2	K562	blood:
13	chr13:92148492..92150408-chr13:92151734..92153654,2	K562	blood:
14	chr13:92159491..92161501-chr13:92176465..92179053,2	K562	blood:
15	chr13:92008416..92011064-chr13:92130907..92133015,2	K562	blood:
16	chr13:92135361..92137135-chr13:92138478..92140147,2	K562	blood:
17	chr13:91997573..92000500-chr13:92197852..92200418,3	K562	blood:
18	chr13:92008607..92010554-chr13:92155871..92158754,2	K562	blood:
19	chr13:92107891..92113642-chr13:92115270..92120759,5	K562	blood:
20	chr13:92092474..92094717-chr13:92135547..92138015,2	K562	blood:
21	chr13:92184682..92187279-chr13:92198091..92201088,2	K562	blood:
22	chr13:92182876..92184485-chr13:92186803..92188669,2	K562	blood:
23	chr13:92119062..92121463-chr13:92291880..92293411,2	K562	blood:
24	chr13:92227917..92229950-chr13:92230948..92232962,2	K562	blood:
25	chr13:91998014..92003423-chr13:92229668..92234978,7	K562	blood:
26	chr13:92007143..92009275-chr13:92226841..92229581,3	K562	blood:
27	chr13:92206151..92208755-chr13:92211043..92213687,2	K562	blood:
28	chr13:92010540..92013547-chr13:92187635..92190322,4	K562	blood:
29	chr13:92170644..92172190-chr13:92176329..92179236,2	K562	blood:
30	chr13:92148908..92150771-chr13:92152154..92153922,2	K562	blood:
31	chr13:92008301..92012941-chr13:92190227..92194060,8	K562	blood:
32	chr13:92162718..92164908-chr13:92171224..92173574,2	K562	blood:
33	chr13:92196711..92199181-chr13:92203111..92205977,3	K562	blood:
34	chr13:91999355..92001703-chr13:92174124..92175884,3	K562	blood:
35	chr13:92002483..92004048-chr13:92226759..92228533,2	K562	blood:
36	chr13:92123332..92125906-chr13:92134652..92136201,2	K562	blood:
37	chr13:92044141..92045883-chr13:92197242..92200022,2	K562	blood:
38	chr13:92177586..92180644-chr13:92183133..92185901,4	K562	blood:
39	chr13:92010600..92013246-chr13:92212301..92213807,2	K562	blood:
40	chr13:92033584..92034291-chr13:92111449..92112023,3	MCF-7	breast:
41	chr13:92200166..92202892-chr13:92208902..92210980,2	K562	blood:
42	chr13:92010191..92014540-chr13:92229897..92231842,4	K562	blood:
43	chr13:92000817..92003388-chr13:92213282..92215654,2	K562	blood:
44	chr13:92230196..92232882-chr13:92239381..92242143,2	K562	blood:
45	chr13:92160746..92163640-chr13:92165864..92167595,4	K562	blood:
46	chr13:91999463..92003203-chr13:92216972..92220582,4	K562	blood:
47	chr13:92102195..92104409-chr13:92117038..92118758,2	K562	blood:
48	chr13:91996168..91998142-chr13:92114468..92116785,2	K562	blood:
49	chr13:92121197..92123772-chr13:92150006..92151783,2	K562	blood:
50	chr13:92236165..92237762-chr13:92267223..92269293,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPC6-6	chr13:92138065-92139124	NONHSAT034696
2	lnc-GPC6-6	chr13:92139141-92139148	NONHSAT034696

No data

Variant related genes	Relation type
ENSG00000215417	chromatin interactions
ENSG00000179399	chromatin interactions

Extended variants
information (count: 3787 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:3787 , 50 per page) page: 1 2 3 4 5 6 7 ... 76

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369976699	chr13:92111710-92111711	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs576231627	chr13:92111833-92111834	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs535710407	chr13:92111914-92111915	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs555680209	chr13:92111981-92111982	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs189349256	chr13:92112058-92112059	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs181854995	chr13:92112076-92112077	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs560110219	chr13:92112093-92112094	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs576837622	chr13:92112126-92112127	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs545888080	chr13:92112151-92112152	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs633008	chr13:92112206-92112207	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs531579161	chr13:92112208-92112209	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs138896687	chr13:92112252-92112253	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs370409305	chr13:92112273-92112274	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs72640382	chr13:92112274-92112275	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs633460	chr13:92112295-92112296	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs544942880	chr13:92112309-92112310	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs570844822	chr13:92112316-92112317	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs140486827	chr13:92112356-92112357	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs2351864	chr13:92112360-92112361	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs368485583	chr13:92114773-92114774	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs147136743	chr13:92114828-92114829	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs505797	chr13:92114833-92114834	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs556880857	chr13:92114880-92114881	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs10492620	chr13:92114912-92114913	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs543040426	chr13:92114965-92114966	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs16945971	chr13:92114969-92114970	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs371793847	chr13:92115061-92115062	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs573262704	chr13:92115105-92115106	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs545177946	chr13:92115145-92115146	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs565439582	chr13:92115216-92115217	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs531172096	chr13:92115223-92115224	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs188123613	chr13:92115293-92115294	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs531763331	chr13:92115351-92115352	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs533630768	chr13:92115378-92115379	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs3848054	chr13:92115388-92115389	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs548936363	chr13:92115422-92115423	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs117742717	chr13:92115425-92115426	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs678686	chr13:92115445-92115446	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs551226925	chr13:92115486-92115487	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs571105341	chr13:92115527-92115528	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs536873193	chr13:92115584-92115585	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs556819381	chr13:92115589-92115590	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs573561406	chr13:92115612-92115613	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs536180109	chr13:92115657-92115658	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs553288199	chr13:92115666-92115667	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs377239978	chr13:92115680-92115681	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs192746244	chr13:92115742-92115743	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs9560804	chr13:92115755-92115756	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs552157	chr13:92115782-92115783	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs575886590	chr13:92115786-92115787	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92119600-92120800	Enhancers	Hela-S3	cervix
2	chr13:92120200-92121000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr13:92120200-92121000	Enhancers	HMEC	breast
4	chr13:92120200-92121000	Enhancers	NHEK	skin
5	chr13:92120200-92121400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr13:92121000-92122200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr13:92122400-92122600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr13:92133800-92134600	ZNF genes & repeats	Aorta	Aorta
9	chr13:92133800-92157000	Weak transcription	Hela-S3	cervix
10	chr13:92134800-92135000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr13:92135000-92135600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr13:92135000-92138000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr13:92135600-92136000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr13:92138000-92139200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr13:92138000-92139400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr13:92138000-92139600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr13:92138400-92139200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:92143800-92144000	Enhancers	Aorta	Aorta
19	chr13:92144600-92144800	Enhancers	Aorta	Aorta
20	chr13:92172800-92173800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr13:92173200-92173400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr13:92173400-92174000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr13:92173400-92174000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr13:92173600-92174000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr13:92173600-92174200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr13:92174000-92174200	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr13:92183400-92184400	Active TSS	Right Atrium	heart
28	chr13:92185800-92186400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr13:92191000-92195000	Enhancers	Fetal Intestine Large	intestine
30	chr13:92191200-92191400	Enhancers	K562	blood
31	chr13:92191400-92192000	Flanking Active TSS	K562	blood
32	chr13:92191400-92193000	Enhancers	HepG2	liver
33	chr13:92191400-92194800	Enhancers	Fetal Intestine Small	intestine
34	chr13:92191600-92192000	Enhancers	Primary hematopoietic stem cells	blood
35	chr13:92191600-92192800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr13:92191600-92193800	Enhancers	Fetal Lung	lung
37	chr13:92191800-92192800	Enhancers	Fetal Stomach	stomach
38	chr13:92191800-92193200	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr13:92191800-92193200	Enhancers	Small Intestine	intestine
40	chr13:92192000-92192600	Active TSS	K562	blood
41	chr13:92192200-92192600	Enhancers	Fetal Kidney	kidney
42	chr13:92192200-92192800	Enhancers	Liver	Liver
43	chr13:92192200-92193000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr13:92192200-92193000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr13:92192400-92192600	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr13:92192400-92193200	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr13:92192600-92193200	Flanking Active TSS	K562	blood
48	chr13:92193200-92193800	Enhancers	K562	blood
49	chr13:92193800-92194400	Weak transcription	K562	blood
50	chr13:92194400-92194800	ZNF genes & repeats	K562	blood

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