Variant report

Variant	nsv530635
Chromosome Location	chr13:92084151-92280466
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:298)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:298 , 50 per page) page: 1 2 3 4 5 6

No.	Distal block	Cell Line	Cell type
1	chr13:92243681..92245220-chr13:92248904..92251183,2	K562	blood:
2	chr13:92010904..92013459-chr13:92248662..92250979,3	K562	blood:
3	chr13:91998601..92001213-chr13:92125958..92127957,2	K562	blood:
4	chr13:92236165..92237762-chr13:92267223..92269293,2	K562	blood:
5	chr13:92196622..92200535-chr13:92219844..92223399,3	K562	blood:
6	chr13:92239975..92242256-chr13:92242263..92244632,2	K562	blood:
7	chr13:92164942..92167877-chr13:92227738..92230237,2	K562	blood:
8	chr13:92267921..92270125-chr13:92273063..92275419,2	K562	blood:
9	chr13:92153880..92156488-chr13:92190234..92193080,2	K562	blood:
10	chr13:92000047..92002430-chr13:92184424..92186080,2	K562	blood:
11	chr13:92007495..92010220-chr13:92160111..92163100,2	K562	blood:
12	chr13:92196711..92199181-chr13:92203111..92205977,3	K562	blood:
13	chr13:92159491..92161501-chr13:92176465..92179053,2	K562	blood:
14	chr13:92162718..92164908-chr13:92171224..92173574,2	K562	blood:
15	chr13:92148492..92150408-chr13:92151734..92153654,2	K562	blood:
16	chr13:92013384..92016331-chr13:92208566..92210959,3	K562	blood:
17	chr13:92008212..92012126-chr13:92101857..92105185,4	K562	blood:
18	chr13:92046123..92048936-chr13:92098692..92101660,2	K562	blood:
19	chr13:92260009..92262228-chr13:92270548..92273366,2	K562	blood:
20	chr13:92280416..92282576-chr13:92285378..92288732,3	K562	blood:
21	chr13:92007765..92009366-chr13:92214136..92216197,2	K562	blood:
22	chr13:92010600..92013246-chr13:92212301..92213807,2	K562	blood:
23	chr13:92123497..92125902-chr13:92151916..92153819,3	K562	blood:
24	chr13:92255731..92257418-chr13:92257908..92259883,2	K562	blood:
25	chr13:91999928..92001620-chr13:92101603..92103209,2	K562	blood:
26	chr13:92271343..92273081-chr13:92275207..92276860,2	K562	blood:
27	chr13:91997506..92000285-chr13:92107831..92110629,2	K562	blood:
28	chr13:92239975..92242256-chr13:92242263..92244632,2	K562	blood:
29	chr13:92261757..92264184-chr13:92265065..92267331,2	K562	blood:
30	chr13:92248261..92249919-chr13:92251613..92253599,2	K562	blood:
31	chr13:92145807..92146368-chr13:92374222..92374906,2	MCF-7	breast:
32	chr13:91999152..92002157-chr13:92187456..92189732,3	K562	blood:
33	chr13:92254207..92255838-chr13:92259817..92262000,2	K562	blood:
34	chr13:92015353..92017050-chr13:92205508..92207403,2	K562	blood:
35	chr13:92010104..92012941-chr13:92190804..92193733,4	K562	blood:
36	chr13:92115969..92118461-chr13:92125047..92127924,2	K562	blood:
37	chr13:92122838..92124577-chr13:92141726..92143965,2	K562	blood:
38	chr13:92009349..92012461-chr13:92224404..92227397,3	K562	blood:
39	chr13:92075452..92079236-chr13:92080540..92084260,4	K562	blood:
40	chr13:92130354..92132978-chr13:92134127..92137627,4	K562	blood:
41	chr13:92002721..92004568-chr13:92114750..92116666,2	K562	blood:
42	chr13:92027179..92027845-chr13:92111753..92112363,2	MCF-7	breast:
43	chr13:92280416..92282576-chr13:92286859..92289311,3	K562	blood:
44	chr13:92026085..92029237-chr13:92090534..92094674,3	K562	blood:
45	chr13:92214626..92216806-chr13:92217477..92220350,2	K562	blood:
46	chr13:91997573..92000500-chr13:92197852..92200418,3	K562	blood:
47	chr13:92044141..92045883-chr13:92197242..92200022,2	K562	blood:
48	chr13:92230040..92232872-chr13:92241725..92244937,3	K562	blood:
49	chr13:91999148..92001572-chr13:92198977..92201906,2	MCF-7	breast:
50	chr13:92021439..92024213-chr13:92095145..92097791,2	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: 5753 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:5753 , 50 per page) page: 1 2 3 4 5 6 7 ... 116

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186821104	chr13:92084175-92084176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75149206	chr13:92084220-92084221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9556087	chr13:92084230-92084231	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs13378154	chr13:92084243-92084244	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs569640343	chr13:92084278-92084279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11843981	chr13:92084301-92084302	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs367977749	chr13:92084313-92084314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375735155	chr13:92084369-92084370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138512573	chr13:92084395-92084396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142705850	chr13:92084438-92084439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370265516	chr13:92084458-92084459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140790450	chr13:92084459-92084460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs55789631	chr13:92084460-92084461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368274599	chr13:92084461-92084462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs56320164	chr13:92084464-92084465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs13378350	chr13:92084467-92084468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534828066	chr13:92084533-92084534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs373624052	chr13:92084541-92084542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs13378852	chr13:92084638-92084639	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs562112815	chr13:92084693-92084694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7982915	chr13:92084704-92084705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192175074	chr13:92084749-92084750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs74106747	chr13:92084759-92084760	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs13378856	chr13:92084766-92084767	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs148436401	chr13:92084767-92084768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs56041976	chr13:92084773-92084774	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs573058233	chr13:92084794-92084795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573654765	chr13:92090547-92090548	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs550542722	chr13:92090558-92090559	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs557981126	chr13:92090589-92090590	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs141044285	chr13:92090610-92090611	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs376695803	chr13:92090689-92090690	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs530042745	chr13:92090707-92090708	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs150237421	chr13:92090711-92090712	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs145872942	chr13:92090712-92090713	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs539221027	chr13:92090729-92090730	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs542566117	chr13:92090776-92090777	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs558915267	chr13:92090795-92090796	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs182909056	chr13:92090797-92090798	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs75870264	chr13:92090798-92090799	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs188415051	chr13:92090840-92090841	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs555324365	chr13:92090851-92090852	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs572550055	chr13:92090855-92090856	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs144620229	chr13:92090867-92090868	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs7323109	chr13:92090884-92090885	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs572896834	chr13:92090894-92090895	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs530586374	chr13:92090908-92090909	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs564769834	chr13:92090929-92090930	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs544099409	chr13:92090964-92090965	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs7328888	chr13:92090990-92090991	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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92084000-92084800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr13:92119600-92120800	Enhancers	Hela-S3	cervix
3	chr13:92120200-92121000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr13:92120200-92121000	Enhancers	HMEC	breast
5	chr13:92120200-92121000	Enhancers	NHEK	skin
6	chr13:92120200-92121400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr13:92121000-92122200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr13:92122400-92122600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr13:92133800-92134600	ZNF genes & repeats	Aorta	Aorta
10	chr13:92133800-92157000	Weak transcription	Hela-S3	cervix
11	chr13:92134800-92135000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr13:92135000-92135600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr13:92135000-92138000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr13:92135600-92136000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr13:92138000-92139200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr13:92138000-92139400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr13:92138000-92139600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr13:92138400-92139200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr13:92143800-92144000	Enhancers	Aorta	Aorta
20	chr13:92144600-92144800	Enhancers	Aorta	Aorta
21	chr13:92172800-92173800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr13:92173200-92173400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr13:92173400-92174000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr13:92173400-92174000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr13:92173600-92174000	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr13:92173600-92174200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr13:92174000-92174200	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr13:92183400-92184400	Active TSS	Right Atrium	heart
29	chr13:92185800-92186400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr13:92191000-92195000	Enhancers	Fetal Intestine Large	intestine
31	chr13:92191200-92191400	Enhancers	K562	blood
32	chr13:92191400-92192000	Flanking Active TSS	K562	blood
33	chr13:92191400-92193000	Enhancers	HepG2	liver
34	chr13:92191400-92194800	Enhancers	Fetal Intestine Small	intestine
35	chr13:92191600-92192000	Enhancers	Primary hematopoietic stem cells	blood
36	chr13:92191600-92192800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr13:92191600-92193800	Enhancers	Fetal Lung	lung
38	chr13:92191800-92192800	Enhancers	Fetal Stomach	stomach
39	chr13:92191800-92193200	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr13:92191800-92193200	Enhancers	Small Intestine	intestine
41	chr13:92192000-92192600	Active TSS	K562	blood
42	chr13:92192200-92192600	Enhancers	Fetal Kidney	kidney
43	chr13:92192200-92192800	Enhancers	Liver	Liver
44	chr13:92192200-92193000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr13:92192200-92193000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr13:92192400-92192600	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr13:92192400-92193200	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr13:92192600-92193200	Flanking Active TSS	K562	blood
49	chr13:92193200-92193800	Enhancers	K562	blood
50	chr13:92193800-92194400	Weak transcription	K562	blood

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