Variant report

Variant	nsv562684
Chromosome Location	chr13:91252260-91305111
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:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:91256519..91258426-chr13:91261599..91263621,2	K562	blood:
2	chr13:91297933..91299729-chr13:91301199..91303508,2	K562	blood:
3	chr13:91253046..91255941-chr13:91298469..91300971,2	K562	blood:
4	chr13:91286129..91289031-chr13:91289145..91290837,2	K562	blood:
5	chr13:91256256..91258154-chr13:91258437..91261292,2	K562	blood:
6	chr13:91270671..91274009-chr13:91274080..91276786,3	K562	blood:
7	chr13:91265357..91267336-chr13:91271195..91274409,3	K562	blood:
8	chr13:91270671..91274009-chr13:91274080..91276786,3	K562	blood:
9	chr13:91273145..91276715-chr13:91277063..91280114,3	K562	blood:
10	chr13:91268736..91270615-chr13:91276203..91277710,2	K562	blood:
11	chr13:91266518..91268064-chr13:91368230..91370673,2	K562	blood:
12	chr13:91294499..91296601-chr13:91299177..91301088,2	K562	blood:
13	chr13:91251912..91255941-chr13:91298469..91300971,3	K562	blood:
14	chr13:91268736..91270615-chr13:91276203..91277710,2	K562	blood:
15	chr13:91264953..91268496-chr13:91271036..91274784,3	K562	blood:
16	chr13:91250027..91251992-chr13:91254709..91256250,2	K562	blood:
17	chr13:91263564..91265823-chr13:91278748..91281325,2	K562	blood:
18	chr13:91263564..91265823-chr13:91278748..91281325,2	K562	blood:
19	chr13:91294499..91296601-chr13:91299177..91301088,2	K562	blood:
20	chr13:91297933..91299729-chr13:91301199..91303508,2	K562	blood:
21	chr13:91253046..91255941-chr13:91298469..91300971,2	K562	blood:
22	chr13:91276969..91279792-chr13:91280737..91282737,3	K562	blood:
23	chr13:91276969..91279792-chr13:91280737..91282737,3	K562	blood:
24	chr13:91256256..91258154-chr13:91258437..91261292,2	K562	blood:
25	chr13:91260790..91263429-chr13:91267813..91271403,3	K562	blood:
26	chr13:91274398..91275948-chr13:91280983..91283052,2	K562	blood:
27	chr13:91286129..91289031-chr13:91289145..91290837,2	K562	blood:
28	chr13:91247262..91250032-chr13:91253392..91255538,2	K562	blood:
29	chr13:91256519..91258426-chr13:91261599..91263621,2	K562	blood:
30	chr13:91265357..91267336-chr13:91271195..91274409,3	K562	blood:
31	chr13:91264953..91268496-chr13:91271036..91274784,3	K562	blood:
32	chr13:91251912..91255941-chr13:91298469..91300971,3	K562	blood:
33	chr13:91273145..91276715-chr13:91277063..91280114,3	K562	blood:
34	chr11:62803292..62803814-chr13:91253834..91254354,2	MCF-7	breast:
35	chr13:91260790..91263429-chr13:91267813..91271403,3	K562	blood:
36	chr13:91303833..91306037-chr22:30783164..30785871,2	K562	blood:
37	chr13:91274398..91275948-chr13:91280983..91283052,2	K562	blood:
38	chr13:91202714..91204329-chr13:91304356..91306034,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000099999	chromatin interactions

Extended variants
information (count: 1094 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1094 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527451675	chr13:91254426-91254427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552360950	chr13:91254431-91254432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112469860	chr13:91254480-91254481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531483238	chr13:91254481-91254482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369218424	chr13:91254503-91254504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182892897	chr13:91254505-91254506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187752774	chr13:91254506-91254507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536921766	chr13:91254544-91254545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555271365	chr13:91254634-91254635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546132593	chr13:91254640-91254641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542590183	chr13:91254661-91254662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190243170	chr13:91254683-91254684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372251023	chr13:91254696-91254697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113201248	chr13:91254710-91254711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187467006	chr13:91254721-91254722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556264192	chr13:91254741-91254742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113355596	chr13:91254787-91254788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376798976	chr13:91254790-91254791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542709006	chr13:91254794-91254795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573344205	chr13:91254802-91254803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146068911	chr13:91254829-91254830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192221220	chr13:91254863-91254864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541836983	chr13:91254869-91254870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139217821	chr13:91254902-91254903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs74103487	chr13:91254941-91254942	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs185448016	chr13:91254975-91254976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140540355	chr13:91255040-91255041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189072344	chr13:91255042-91255043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549873218	chr13:91255046-91255047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548026382	chr13:91255050-91255051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192166124	chr13:91255127-91255128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528857449	chr13:91255140-91255141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547424908	chr13:91255149-91255150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542257756	chr13:91255156-91255157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150492172	chr13:91255237-91255238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs72642745	chr13:91255239-91255240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76711203	chr13:91255247-91255248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76781999	chr13:91255332-91255333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138323931	chr13:91255366-91255367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs116263911	chr13:91255367-91255368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs370719296	chr13:91255404-91255405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11618652	chr13:91255433-91255434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541777306	chr13:91255435-91255436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373253861	chr13:91255493-91255494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572244270	chr13:91255494-91255495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs71444078	chr13:91255495-91255496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs77428957	chr13:91255511-91255512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564102008	chr13:91255517-91255518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550499224	chr13:91255527-91255528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376245820	chr13:91255534-91255535	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:91254400-91255000	Enhancers	Fetal Kidney	kidney
2	chr13:91254400-91255600	Enhancers	Fetal Lung	lung
3	chr13:91257800-91258200	Enhancers	Fetal Brain Female	brain
4	chr13:91258800-91269600	Weak transcription	Right Atrium	heart
5	chr13:91263600-91265600	Enhancers	Fetal Lung	lung
6	chr13:91266200-91266400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:91266400-91274000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr13:91272800-91273000	Enhancers	HMEC	breast
9	chr13:91273200-91274200	Weak transcription	HMEC	breast
10	chr13:91274000-91276600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr13:91274200-91274800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr13:91274200-91275200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr13:91274200-91275400	Enhancers	HSMM	muscle
14	chr13:91274200-91276000	Enhancers	NH-A	brain
15	chr13:91274200-91276400	Enhancers	HMEC	breast
16	chr13:91274400-91275000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr13:91274400-91276200	Enhancers	NHEK	skin
18	chr13:91274800-91275000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr13:91274800-91275400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr13:91274800-91275800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr13:91275000-91275200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr13:91275000-91275400	Enhancers	A549	lung
23	chr13:91275200-91275400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr13:91275200-91275600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr13:91275400-91276000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr13:91275600-91276600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr13:91283800-91284600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr13:91284400-91284800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr13:91284600-91285600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr13:91285800-91286000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr13:91286400-91288200	Weak transcription	HSMMtube	muscle
32	chr13:91288000-91288400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr13:91288000-91288600	Enhancers	NHEK	skin
34	chr13:91288000-91288800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr13:91288000-91288800	Enhancers	Muscle Satellite Cultured Cells	--
36	chr13:91288400-91293200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr13:91288600-91293400	Weak transcription	NHEK	skin
38	chr13:91288800-91293200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr13:91288800-91293400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr13:91291800-91292800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr13:91293200-91293400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr13:91293200-91293800	Enhancers	Muscle Satellite Cultured Cells	--
43	chr13:91293200-91293800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr13:91293200-91294000	Enhancers	HMEC	breast
45	chr13:91293400-91293800	Enhancers	NHEK	skin
46	chr13:91293400-91294000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr13:91294000-91294200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr13:91304600-91304800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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