Variant report

Variant	nsv949582
Chromosome Location	chr13:92062331-92301861
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:347)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:347 , 50 per page) page: 1 2 3 4 5 6 7

No.	Distal block	Cell Line	Cell type
1	chr13:92009651..92011564-chr13:92135642..92137218,2	K562	blood:
2	chr13:91998617..92002500-chr13:92182386..92186080,7	K562	blood:
3	chr13:92271343..92273081-chr13:92275207..92276860,2	K562	blood:
4	chr13:92098491..92101208-chr13:92103256..92104818,2	K562	blood:
5	chr13:92150607..92154895-chr13:92156123..92159615,3	K562	blood:
6	chr13:92267921..92270125-chr13:92273063..92275419,2	K562	blood:
7	chr13:92239975..92242011-chr13:92243132..92246176,3	K562	blood:
8	chr13:92084345..92086304-chr13:92354693..92357184,2	K562	blood:
9	chr13:92106168..92109091-chr13:92193119..92195510,2	K562	blood:
10	chr13:92070589..92072533-chr13:92296462..92299293,2	K562	blood:
11	chr13:92200166..92202892-chr13:92208902..92210980,2	K562	blood:
12	chr13:92243534..92246782-chr13:92263932..92267998,4	K562	blood:
13	chr13:92212560..92214480-chr13:92214711..92216688,2	K562	blood:
14	chr13:91998717..92000233-chr13:92225643..92228118,2	K562	blood:
15	chr13:92239975..92242256-chr13:92242263..92244632,2	K562	blood:
16	chr13:92009784..92014607-chr13:92111183..92117003,5	K562	blood:
17	chr13:92188283..92190804-chr13:92237945..92240557,2	K562	blood:
18	chr13:92260155..92263088-chr13:92331599..92333325,2	K562	blood:
19	chr13:92143103..92145187-chr13:92412548..92414765,2	K562	blood:
20	chr13:92159527..92163408-chr13:92164640..92167364,4	K562	blood:
21	chr13:92260009..92262228-chr13:92270548..92273366,2	K562	blood:
22	chr13:92181622..92183811-chr13:92190169..92193501,3	K562	blood:
23	chr13:92214626..92216806-chr13:92217477..92220350,2	K562	blood:
24	chr13:92220200..92222045-chr13:92225893..92228117,2	K562	blood:
25	chr13:92098332..92100231-chr13:92111695..92113282,2	K562	blood:
26	chr13:92102206..92105802-chr13:92108193..92112273,4	K562	blood:
27	chr13:92121197..92123772-chr13:92150006..92151783,2	K562	blood:
28	chr13:91998601..92001213-chr13:92125958..92127957,2	K562	blood:
29	chr13:92184682..92187279-chr13:92198091..92201088,2	K562	blood:
30	chr13:91998570..92001395-chr13:92249763..92252291,3	K562	blood:
31	chr13:91999422..92001963-chr13:92245508..92247881,2	K562	blood:
32	chr13:92245236..92246782-chr13:92265114..92267999,2	K562	blood:
33	chr13:91998239..92000687-chr13:92301287..92304131,2	K562	blood:
34	chr13:92230196..92232882-chr13:92239381..92242143,2	K562	blood:
35	chr13:92060942..92062675-chr13:92064066..92065770,2	K562	blood:
36	chr13:92272945..92275845-chr13:92297688..92299571,2	K562	blood:
37	chr13:92184682..92187279-chr13:92198091..92201088,2	K562	blood:
38	chr13:92216303..92218322-chr13:92375476..92377314,2	K562	blood:
39	chr13:92049892..92052052-chr13:92186986..92189853,2	K562	blood:
40	chr13:92008301..92012941-chr13:92190227..92194060,8	K562	blood:
41	chr13:92248261..92249919-chr13:92251613..92253599,2	K562	blood:
42	chr13:92210121..92212053-chr13:92229596..92232214,2	K562	blood:
43	chr13:92156947..92159477-chr13:92164657..92166774,2	K562	blood:
44	chr13:92002682..92004193-chr13:92153468..92155206,2	K562	blood:
45	chr13:92062640..92065872-chr13:92066862..92069826,4	K562	blood:
46	chr13:92123497..92125902-chr13:92151916..92153819,3	K562	blood:
47	chr13:92010104..92012941-chr13:92190804..92193733,4	K562	blood:
48	chr13:92156947..92159477-chr13:92164657..92166774,2	K562	blood:
49	chr13:91999007..92001026-chr13:92110690..92112371,2	K562	blood:
50	chr13:92122838..92124577-chr13:92141726..92143965,2	K562	blood:

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

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

No data

Variant related genes	Relation type
ENSG00000179399	chromatin interactions
ENSG00000215417	chromatin interactions

Extended variants
information (count: 6940 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:6940 , 50 per page) page: 1 2 3 4 5 6 7 ... 139

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374774526	chr13:92063454-92063455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549278765	chr13:92063505-92063506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182409128	chr13:92063515-92063516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145764825	chr13:92063574-92063575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114212978	chr13:92063604-92063605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558339827	chr13:92063609-92063610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs578148254	chr13:92063618-92063619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575235719	chr13:92063670-92063671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9589218	chr13:92063680-92063681	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs575662153	chr13:92063723-92063724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541447536	chr13:92063726-92063727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534489406	chr13:92063729-92063730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571819344	chr13:92063776-92063777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187943083	chr13:92063780-92063781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191528276	chr13:92063781-92063782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557934496	chr13:92063805-92063806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550080790	chr13:92063811-92063812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs17643246	chr13:92063813-92063814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148527485	chr13:92063871-92063872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116069907	chr13:92063952-92063953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9589219	chr13:92063955-92063956	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs573675405	chr13:92063975-92063976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115355173	chr13:92063985-92063986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142931849	chr13:92064038-92064039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537323139	chr13:92064068-92064069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9589220	chr13:92064095-92064096	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs574011826	chr13:92064140-92064141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535044294	chr13:92064190-92064191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182611560	chr13:92064210-92064211	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540877885	chr13:92064262-92064263	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541164250	chr13:92064276-92064277	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76112358	chr13:92064285-92064286	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552836544	chr13:92064308-92064309	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187324760	chr13:92064351-92064352	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572832575	chr13:92064393-92064394	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559905036	chr13:92064394-92064395	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573503657	chr13:92064395-92064396	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115696212	chr13:92064441-92064442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563538531	chr13:92064476-92064477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532126212	chr13:92064489-92064490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192152888	chr13:92064518-92064519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs17668169	chr13:92064541-92064542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185306827	chr13:92064546-92064547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141457309	chr13:92064549-92064550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376174359	chr13:92064554-92064555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145161108	chr13:92064623-92064624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551879491	chr13:92064643-92064644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs17668181	chr13:92064644-92064645	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs146866059	chr13:92064646-92064647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550773518	chr13:92064662-92064663	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:168 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92063400-92063800	Enhancers	Fetal Heart	heart
2	chr13:92063600-92063800	Enhancers	Stomach Mucosa	stomach
3	chr13:92063800-92069600	Weak transcription	Stomach Mucosa	stomach
4	chr13:92064200-92064400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr13:92067600-92067800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr13:92069600-92069800	Enhancers	GM12878-XiMat	blood
7	chr13:92069600-92070400	Enhancers	Fetal Lung	lung
8	chr13:92069600-92071000	Enhancers	Stomach Mucosa	stomach
9	chr13:92069800-92070000	Flanking Active TSS	GM12878-XiMat	blood
10	chr13:92070000-92070400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr13:92070000-92070400	Enhancers	GM12878-XiMat	blood
12	chr13:92072000-92072400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr13:92073400-92074400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr13:92078800-92079200	Weak transcription	Hela-S3	cervix
15	chr13:92084000-92084800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr13:92119600-92120800	Enhancers	Hela-S3	cervix
17	chr13:92120200-92121000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr13:92120200-92121000	Enhancers	HMEC	breast
19	chr13:92120200-92121000	Enhancers	NHEK	skin
20	chr13:92120200-92121400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr13:92121000-92122200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr13:92122400-92122600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr13:92133800-92134600	ZNF genes & repeats	Aorta	Aorta
24	chr13:92133800-92157000	Weak transcription	Hela-S3	cervix
25	chr13:92134800-92135000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr13:92135000-92135600	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr13:92135000-92138000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr13:92135600-92136000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr13:92138000-92139200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr13:92138000-92139400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr13:92138000-92139600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr13:92138400-92139200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr13:92143800-92144000	Enhancers	Aorta	Aorta
34	chr13:92144600-92144800	Enhancers	Aorta	Aorta
35	chr13:92172800-92173800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr13:92173200-92173400	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr13:92173400-92174000	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr13:92173400-92174000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr13:92173600-92174000	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr13:92173600-92174200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr13:92174000-92174200	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr13:92183400-92184400	Active TSS	Right Atrium	heart
43	chr13:92185800-92186400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr13:92191000-92195000	Enhancers	Fetal Intestine Large	intestine
45	chr13:92191200-92191400	Enhancers	K562	blood
46	chr13:92191400-92192000	Flanking Active TSS	K562	blood
47	chr13:92191400-92193000	Enhancers	HepG2	liver
48	chr13:92191400-92194800	Enhancers	Fetal Intestine Small	intestine
49	chr13:92191600-92192000	Enhancers	Primary hematopoietic stem cells	blood
50	chr13:92191600-92192800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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