Variant report

Variant	nsv562716
Chromosome Location	chr13:92128694-92250454
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:195)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:195 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr13:92195959..92198625-chr13:92200730..92202356,2	K562	blood:
2	chr13:92008301..92012941-chr13:92190227..92194060,8	K562	blood:
3	chr13:92235247..92237716-chr13:92246405..92249429,3	K562	blood:
4	chr13:92007143..92009275-chr13:92226841..92229581,3	K562	blood:
5	chr13:92143103..92145187-chr13:92412548..92414765,2	K562	blood:
6	chr13:92197322..92199181-chr13:92203586..92205977,3	K562	blood:
7	chr13:92007765..92009366-chr13:92214136..92216197,2	K562	blood:
8	chr13:92145807..92146368-chr13:92374222..92374906,2	MCF-7	breast:
9	chr13:91999152..92002157-chr13:92187456..92189732,3	K562	blood:
10	chr13:92196711..92199181-chr13:92203111..92205977,3	K562	blood:
11	chr13:92006350..92012037-chr13:92182700..92187101,6	K562	blood:
12	chr13:91998816..92001447-chr13:92173225..92176240,3	K562	blood:
13	chr13:92212560..92214480-chr13:92214711..92216688,2	K562	blood:
14	chr13:92009300..92011060-chr13:92144900..92147559,2	K562	blood:
15	chr13:92121197..92123772-chr13:92150006..92151783,2	K562	blood:
16	chr13:92239975..92242011-chr13:92243132..92246176,3	K562	blood:
17	chr13:92227917..92229950-chr13:92230948..92232962,2	K562	blood:
18	chr13:92010904..92013459-chr13:92248662..92250979,3	K562	blood:
19	chr13:92009349..92012461-chr13:92224404..92227397,3	K562	blood:
20	chr13:91997573..92000500-chr13:92197816..92200418,3	K562	blood:
21	chr13:92000817..92003388-chr13:92213282..92215654,2	K562	blood:
22	chr13:91998570..92001395-chr13:92249763..92252291,3	K562	blood:
23	chr13:92106168..92109091-chr13:92193119..92195510,2	K562	blood:
24	chr13:92160746..92163640-chr13:92165864..92167595,4	K562	blood:
25	chr13:92245425..92247382-chr13:92260247..92262915,2	K562	blood:
26	chr13:92149116..92151333-chr13:92160677..92162411,2	K562	blood:
27	chr13:92051686..92054316-chr13:92235885..92238525,2	K562	blood:
28	chr13:92188283..92190804-chr13:92237945..92240557,2	K562	blood:
29	chr13:92002931..92005760-chr13:92245591..92249078,3	K562	blood:
30	chr13:91999658..92001374-chr13:92144103..92146627,2	MCF-7	breast:
31	chr13:92010600..92013246-chr13:92212301..92213807,2	K562	blood:
32	chr13:92135361..92137135-chr13:92138478..92140147,2	K562	blood:
33	chr13:92182876..92184485-chr13:92186803..92188669,2	K562	blood:
34	chr13:92002682..92004193-chr13:92153468..92155206,2	K562	blood:
35	chr13:92008416..92011064-chr13:92130907..92133015,2	K562	blood:
36	chr13:92150607..92154895-chr13:92156123..92159615,3	K562	blood:
37	chr13:92197322..92199181-chr13:92203586..92205977,3	K562	blood:
38	chr13:92227917..92229950-chr13:92230948..92232962,2	K562	blood:
39	chr13:91925141..91926694-chr13:92150177..92152506,2	K562	blood:
40	chr13:92012879..92016310-chr13:92160976..92164923,4	K562	blood:
41	chr13:92172090..92174272-chr13:92427047..92429964,2	K562	blood:
42	chr13:92005893..92007977-chr13:92204447..92207265,2	K562	blood:
43	chr13:92010873..92012565-chr13:92225020..92227817,2	K562	blood:
44	chr13:92153880..92156488-chr13:92190234..92193080,2	K562	blood:
45	chr13:92184682..92187279-chr13:92198091..92201088,2	K562	blood:
46	chr13:92008752..92010349-chr13:92203596..92205345,2	K562	blood:
47	chr13:92184682..92187279-chr13:92198091..92201088,2	K562	blood:
48	chr13:92130354..92132978-chr13:92134127..92137627,4	K562	blood:
49	chr13:92149116..92151333-chr13:92160677..92162411,2	K562	blood:
50	chr13:92009508..92013495-chr13:92125822..92129742,3	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
ENSG00000179399	chromatin interactions
ENSG00000215417	chromatin interactions

Extended variants
information (count: 3730 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:3730 , 50 per page) page: 1 2 3 4 5 6 7 ... 75

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373406093	chr13:92133808-92133809	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527316850	chr13:92133828-92133829	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs59113573	chr13:92133839-92133840	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs563997279	chr13:92133871-92133872	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186179240	chr13:92133913-92133914	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549669789	chr13:92133915-92133916	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76860509	chr13:92133921-92133922	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535360140	chr13:92133924-92133925	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9560814	chr13:92133941-92133942	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs537049924	chr13:92133959-92133960	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534678471	chr13:92133962-92133963	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191472070	chr13:92133965-92133966	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558157416	chr13:92133974-92133975	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75664570	chr13:92133992-92133993	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183311900	chr13:92134001-92134002	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557583350	chr13:92134009-92134010	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148771284	chr13:92134040-92134041	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543326762	chr13:92134063-92134064	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554509604	chr13:92134068-92134069	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9523341	chr13:92134073-92134074	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs541705222	chr13:92134117-92134118	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146883125	chr13:92134122-92134123	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186872772	chr13:92134143-92134144	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573585820	chr13:92134192-92134193	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564118048	chr13:92134205-92134206	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116614472	chr13:92134206-92134207	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7987869	chr13:92134219-92134220	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs79161126	chr13:92134233-92134234	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200583220	chr13:92134310-92134311	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190628122	chr13:92134338-92134339	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548784368	chr13:92134416-92134417	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs207474211	chr13:92134423-92134424	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183198413	chr13:92134450-92134451	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577099606	chr13:92134469-92134470	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565613189	chr13:92134477-92134478	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534924569	chr13:92134481-92134482	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9515930	chr13:92134488-92134489	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs571660662	chr13:92134490-92134491	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375084556	chr13:92134532-92134533	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187937505	chr13:92134543-92134544	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574195466	chr13:92134545-92134546	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536812778	chr13:92134546-92134547	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553606316	chr13:92134558-92134559	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7986262	chr13:92134580-92134581	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs140708625	chr13:92134588-92134589	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369554099	chr13:92134601-92134602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143197274	chr13:92134629-92134630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543101253	chr13:92134673-92134674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191096929	chr13:92134686-92134687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146665213	chr13:92134722-92134723	Weak transcription	n/a	n/a	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:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92133800-92134600	ZNF genes & repeats	Aorta	Aorta
2	chr13:92133800-92157000	Weak transcription	Hela-S3	cervix
3	chr13:92134800-92135000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr13:92135000-92135600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr13:92135000-92138000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr13:92135600-92136000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr13:92138000-92139200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr13:92138000-92139400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr13:92138000-92139600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr13:92138400-92139200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr13:92143800-92144000	Enhancers	Aorta	Aorta
12	chr13:92144600-92144800	Enhancers	Aorta	Aorta
13	chr13:92172800-92173800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr13:92173200-92173400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr13:92173400-92174000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr13:92173400-92174000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr13:92173600-92174000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr13:92173600-92174200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr13:92174000-92174200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr13:92183400-92184400	Active TSS	Right Atrium	heart
21	chr13:92185800-92186400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr13:92191000-92195000	Enhancers	Fetal Intestine Large	intestine
23	chr13:92191200-92191400	Enhancers	K562	blood
24	chr13:92191400-92192000	Flanking Active TSS	K562	blood
25	chr13:92191400-92193000	Enhancers	HepG2	liver
26	chr13:92191400-92194800	Enhancers	Fetal Intestine Small	intestine
27	chr13:92191600-92192000	Enhancers	Primary hematopoietic stem cells	blood
28	chr13:92191600-92192800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr13:92191600-92193800	Enhancers	Fetal Lung	lung
30	chr13:92191800-92192800	Enhancers	Fetal Stomach	stomach
31	chr13:92191800-92193200	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr13:92191800-92193200	Enhancers	Small Intestine	intestine
33	chr13:92192000-92192600	Active TSS	K562	blood
34	chr13:92192200-92192600	Enhancers	Fetal Kidney	kidney
35	chr13:92192200-92192800	Enhancers	Liver	Liver
36	chr13:92192200-92193000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr13:92192200-92193000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr13:92192400-92192600	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr13:92192400-92193200	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr13:92192600-92193200	Flanking Active TSS	K562	blood
41	chr13:92193200-92193800	Enhancers	K562	blood
42	chr13:92193800-92194400	Weak transcription	K562	blood
43	chr13:92194400-92194800	ZNF genes & repeats	K562	blood
44	chr13:92195800-92196600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr13:92196000-92196600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr13:92196600-92197200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr13:92196600-92197200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr13:92197000-92197400	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr13:92197000-92197400	Enhancers	Brain Angular Gyrus	brain
50	chr13:92197000-92197400	Enhancers	Brain Anterior Caudate	brain

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