Variant report

Variant	nsv430582
Chromosome Location	chr13:67589898-67762299
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:63)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:63 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr13:67660306..67662402-chr13:67696166..67698306,2	K562	blood:
2	chr13:67641629..67645149-chr13:67647169..67649102,3	K562	blood:
3	chr13:67698083..67700641-chr13:67703157..67705033,2	K562	blood:
4	chr13:67753265..67756119-chr13:67757714..67759510,2	K562	blood:
5	chr13:67674917..67677595-chr13:67687583..67689856,3	K562	blood:
6	chr13:67695998..67698789-chr13:67699013..67700576,2	K562	blood:
7	chr13:67701562..67704458-chr13:67707651..67710683,4	K562	blood:
8	chr13:67611738..67614216-chr13:67615781..67617900,2	K562	blood:
9	chr13:67618768..67621421-chr13:67666837..67668518,2	K562	blood:
10	chr13:67542691..67545017-chr13:67591674..67594006,2	K562	blood:
11	chr13:67673168..67676018-chr13:67680338..67682100,2	K562	blood:
12	chr13:67686150..67689268-chr13:67693283..67697595,5	K562	blood:
13	chr13:67674917..67677595-chr13:67687583..67689856,3	K562	blood:
14	chr13:67644544..67646111-chr13:67718055..67719973,2	K562	blood:
15	chr13:67686001..67691093-chr13:67707345..67712221,5	K562	blood:
16	chr13:67756177..67758762-chr13:67758795..67761086,2	K562	blood:
17	chr13:67723500..67726078-chr13:67726248..67727751,2	K562	blood:
18	chr13:67681587..67685897-chr13:67688405..67692463,6	K562	blood:
19	chr13:67611732..67614272-chr13:67618867..67621097,2	K562	blood:
20	chr13:67724263..67726826-chr13:67734367..67736534,2	K562	blood:
21	chr13:67722123..67726078-chr13:67726248..67727777,3	K562	blood:
22	chr13:67686001..67691093-chr13:67707345..67712221,5	K562	blood:
23	chr13:67660306..67662402-chr13:67696166..67698306,2	K562	blood:
24	chr13:67702842..67705667-chr13:67707651..67711312,4	K562	blood:
25	chr13:67644343..67646660-chr13:67649224..67651999,2	K562	blood:
26	chr13:67610771..67613638-chr13:67632502..67635346,2	K562	blood:
27	chr13:67701562..67704458-chr13:67707651..67710683,4	K562	blood:
28	chr13:67685964..67690654-chr13:67706296..67711657,6	K562	blood:
29	chr13:67644343..67646660-chr13:67649224..67651999,2	K562	blood:
30	chr13:67649311..67650094-chr13:67990535..67991084,2	MCF-7	breast:
31	chr13:67641629..67645149-chr13:67647169..67649102,3	K562	blood:
32	chr13:67644544..67646111-chr13:67718055..67719973,2	K562	blood:
33	chr13:67659257..67661234-chr13:67663464..67666434,2	MCF-7	breast:
34	chr13:67687472..67689479-chr13:67704392..67705946,2	K562	blood:
35	chr13:67698083..67700641-chr13:67703157..67705033,2	K562	blood:
36	chr13:67675315..67677350-chr13:67683836..67685961,2	K562	blood:
37	chr13:67675315..67677350-chr13:67683836..67685961,2	K562	blood:
38	chr13:67722123..67726078-chr13:67726248..67727777,3	K562	blood:
39	chr13:67620328..67623105-chr13:67624007..67626325,2	K562	blood:
40	chr13:67686713..67688646-chr13:67690649..67692733,2	K562	blood:
41	chr13:67611732..67614272-chr13:67618867..67621097,2	K562	blood:
42	chr13:67685964..67690654-chr13:67706296..67711657,6	K562	blood:
43	chr13:67695998..67698789-chr13:67699013..67700576,2	K562	blood:
44	chr13:67611738..67614216-chr13:67615781..67617900,2	K562	blood:
45	chr13:67710572..67712224-chr13:67713182..67714868,2	K562	blood:
46	chr13:67620328..67623105-chr13:67624007..67626325,2	K562	blood:
47	chr13:67673168..67676018-chr13:67680338..67682100,2	K562	blood:
48	chr13:67753265..67756119-chr13:67757714..67759510,2	K562	blood:
49	chr13:67756177..67758762-chr13:67758795..67761086,2	K562	blood:
50	chr13:67624230..67626098-chr13:67628048..67629694,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLHL1-10	chr13:67656645-67658943	NONHSAT034217

No data

Extended variants
information (count: 5991 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:5991 , 50 per page) page: 1 2 3 4 5 6 7 ... 120

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74093518	chr13:67589918-67589919	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs9599174	chr13:67589937-67589938	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs563375176	chr13:67589950-67589951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565312769	chr13:67590006-67590007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531101216	chr13:67590019-67590020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140201320	chr13:67590071-67590072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567576181	chr13:67590125-67590126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530085349	chr13:67590136-67590137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77511061	chr13:67590167-67590168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566659265	chr13:67590169-67590170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs56143243	chr13:67590207-67590208	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs17082029	chr13:67590251-67590252	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs150339847	chr13:67590254-67590255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537208316	chr13:67590297-67590298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2181753	chr13:67590302-67590303	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs573977140	chr13:67590406-67590407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542682154	chr13:67590442-67590443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs17082030	chr13:67590444-67590445	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs145009587	chr13:67590453-67590454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116729959	chr13:67590454-67590455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564954910	chr13:67590535-67590536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192421147	chr13:67590599-67590600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs17082032	chr13:67590600-67590601	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs561286957	chr13:67590618-67590619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73507342	chr13:67590635-67590636	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs546619037	chr13:67590640-67590641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566775599	chr13:67590783-67590784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532502194	chr13:67590785-67590786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552398355	chr13:67590801-67590802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7989912	chr13:67590820-67590821	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs551310167	chr13:67590824-67590825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79916091	chr13:67590862-67590863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs9540971	chr13:67590867-67590868	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs567597831	chr13:67590917-67590918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536526908	chr13:67590952-67590953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553273675	chr13:67591030-67591031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540287519	chr13:67591037-67591038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576947735	chr13:67591039-67591040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529154220	chr13:67591041-67591042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377665263	chr13:67591048-67591049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1323902	chr13:67591076-67591077	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs1323903	chr13:67591078-67591079	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs11407105	chr13:67591090-67591091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558416853	chr13:67591120-67591121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34053712	chr13:67591158-67591159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575292256	chr13:67591163-67591164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544438569	chr13:67591178-67591179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs141087127	chr13:67591231-67591232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534666992	chr13:67591242-67591243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs111940668	chr13:67591255-67591256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	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
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Schizophrenia	23813976	CNVD
Prostate cancer	22341455	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1617 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67585200-67590800	Weak transcription	Brain Substantia Nigra	brain
2	chr13:67586200-67590600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr13:67588200-67590800	Weak transcription	Brain Hippocampus Middle	brain
4	chr13:67589400-67594200	Weak transcription	Brain Angular Gyrus	brain
5	chr13:67590600-67591600	Enhancers	Brain Cingulate Gyrus	brain
6	chr13:67590800-67591600	Enhancers	Brain Hippocampus Middle	brain
7	chr13:67590800-67591600	Enhancers	Brain Substantia Nigra	brain
8	chr13:67591600-67597000	Weak transcription	Brain Hippocampus Middle	brain
9	chr13:67593000-67593200	Enhancers	Dnd41	blood
10	chr13:67593400-67595600	Weak transcription	Dnd41	blood
11	chr13:67593400-67597000	Weak transcription	Primary B cells from cord blood	blood
12	chr13:67594200-67594400	Enhancers	Brain Angular Gyrus	brain
13	chr13:67595400-67595600	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr13:67595600-67596600	Enhancers	Dnd41	blood
15	chr13:67595800-67598400	Enhancers	Fetal Thymus	thymus
16	chr13:67596400-67597000	Enhancers	Thymus	Thymus
17	chr13:67596600-67597000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr13:67596600-67598600	Flanking Active TSS	Dnd41	blood
19	chr13:67596800-67597800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr13:67596800-67597800	Enhancers	Primary hematopoietic stem cells	blood
21	chr13:67596800-67598400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr13:67596800-67598400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr13:67597000-67597200	Flanking Active TSS	Thymus	Thymus
24	chr13:67597000-67597400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr13:67597000-67597400	Enhancers	Brain Hippocampus Middle	brain
26	chr13:67597000-67597600	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr13:67597000-67597800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr13:67597000-67597800	Enhancers	H9 Cell Line	embryonic stem cell
29	chr13:67597000-67598200	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr13:67597000-67598200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr13:67597000-67598200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr13:67597000-67598400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr13:67597000-67598400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr13:67597000-67598400	Enhancers	Primary B cells from cord blood	blood
35	chr13:67597000-67598400	Enhancers	Primary T cells from cord blood	blood
36	chr13:67597000-67598400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr13:67597200-67597400	Enhancers	Thymus	Thymus
38	chr13:67597200-67597800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr13:67597200-67598200	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr13:67597200-67598400	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr13:67597200-67598400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr13:67597400-67597600	Enhancers	Brain Substantia Nigra	brain
43	chr13:67597400-67597600	Flanking Active TSS	Thymus	Thymus
44	chr13:67597400-67597800	Enhancers	Muscle Satellite Cultured Cells	--
45	chr13:67597400-67597800	Flanking Active TSS	Brain Hippocampus Middle	brain
46	chr13:67597400-67597800	Enhancers	Fetal Kidney	kidney
47	chr13:67597400-67597800	Enhancers	HSMM	muscle
48	chr13:67597400-67598000	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr13:67597400-67598200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr13:67597400-67598400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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