Variant report

Variant	nsv541823
Chromosome Location	chr13:67593961-67726047
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:56)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:56 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr13:67584111..67586911-chr13:67593760..67595933,2	K562	blood:
2	chr13:67687472..67689479-chr13:67704392..67705946,2	K562	blood:
3	chr13:67701562..67704458-chr13:67707651..67710683,4	K562	blood:
4	chr13:67686001..67691093-chr13:67707345..67712221,5	K562	blood:
5	chr13:67673168..67676018-chr13:67680338..67682100,2	K562	blood:
6	chr13:67723500..67726078-chr13:67726248..67727751,2	K562	blood:
7	chr13:67698083..67700641-chr13:67703157..67705033,2	K562	blood:
8	chr13:67542691..67545017-chr13:67591674..67594006,2	K562	blood:
9	chr13:67702842..67705667-chr13:67707651..67711312,4	K562	blood:
10	chr13:67644343..67646660-chr13:67649224..67651999,2	K562	blood:
11	chr13:67611732..67614272-chr13:67618867..67621097,2	K562	blood:
12	chr13:67641629..67645149-chr13:67647169..67649102,3	K562	blood:
13	chr13:67681587..67685897-chr13:67688405..67692463,6	K562	blood:
14	chr13:67660306..67662402-chr13:67696166..67698306,2	K562	blood:
15	chr13:67698083..67700641-chr13:67703157..67705033,2	K562	blood:
16	chr13:67611738..67614216-chr13:67615781..67617900,2	K562	blood:
17	chr13:67659257..67661234-chr13:67663464..67666434,2	MCF-7	breast:
18	chr13:67686713..67688646-chr13:67690649..67692733,2	K562	blood:
19	chr13:67659257..67661234-chr13:67663464..67666434,2	MCF-7	breast:
20	chr13:67641629..67645149-chr13:67647169..67649102,3	K562	blood:
21	chr13:67687472..67689479-chr13:67704392..67705946,2	K562	blood:
22	chr13:67702842..67705667-chr13:67707651..67711312,4	K562	blood:
23	chr13:67722123..67726078-chr13:67726248..67727777,3	K562	blood:
24	chr13:67675315..67677350-chr13:67683836..67685961,2	K562	blood:
25	chr13:67644544..67646111-chr13:67718055..67719973,2	K562	blood:
26	chr13:67644343..67646660-chr13:67649224..67651999,2	K562	blood:
27	chr13:67674917..67677595-chr13:67687583..67689856,3	K562	blood:
28	chr13:67618768..67621421-chr13:67666837..67668518,2	K562	blood:
29	chr13:67685964..67690654-chr13:67706296..67711657,6	K562	blood:
30	chr13:67686713..67688646-chr13:67690649..67692733,2	K562	blood:
31	chr13:67673168..67676018-chr13:67680338..67682100,2	K562	blood:
32	chr13:67611732..67614272-chr13:67618867..67621097,2	K562	blood:
33	chr13:67620328..67623105-chr13:67624007..67626325,2	K562	blood:
34	chr13:67620328..67623105-chr13:67624007..67626325,2	K562	blood:
35	chr13:67710572..67712224-chr13:67713182..67714868,2	K562	blood:
36	chr13:67644544..67646111-chr13:67718055..67719973,2	K562	blood:
37	chr13:67695998..67698789-chr13:67699013..67700576,2	K562	blood:
38	chr13:67611738..67614216-chr13:67615781..67617900,2	K562	blood:
39	chr13:67660306..67662402-chr13:67696166..67698306,2	K562	blood:
40	chr13:67610771..67613638-chr13:67632502..67635346,2	K562	blood:
41	chr13:67618768..67621421-chr13:67666837..67668518,2	K562	blood:
42	chr13:67701562..67704458-chr13:67707651..67710683,4	K562	blood:
43	chr13:67724263..67726826-chr13:67734367..67736534,2	K562	blood:
44	chr13:67695998..67698789-chr13:67699013..67700576,2	K562	blood:
45	chr13:67624230..67626098-chr13:67628048..67629694,2	K562	blood:
46	chr13:67610771..67613638-chr13:67632502..67635346,2	K562	blood:
47	chr13:67649311..67650094-chr13:67990535..67991084,2	MCF-7	breast:
48	chr13:67686150..67689268-chr13:67693283..67697595,5	K562	blood:
49	chr13:67624230..67626098-chr13:67628048..67629694,2	K562	blood:
50	chr13:67686150..67689268-chr13:67693283..67697595,5	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: 4483 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:4483 , 50 per page) page: 1 2 3 4 5 6 7 ... 90

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562318152	chr13:67593973-67593974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563363742	chr13:67593981-67593982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575804854	chr13:67594005-67594006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147324038	chr13:67594053-67594054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191830274	chr13:67594123-67594124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141071824	chr13:67594130-67594131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547069958	chr13:67594165-67594166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564242570	chr13:67594318-67594319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551154281	chr13:67594323-67594324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532866110	chr13:67594325-67594326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs9529169	chr13:67594351-67594352	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs183612389	chr13:67594357-67594358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188708271	chr13:67594414-67594415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9540973	chr13:67594445-67594446	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs377134628	chr13:67594460-67594461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571311164	chr13:67594489-67594490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191001150	chr13:67594525-67594526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532648873	chr13:67594559-67594560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535056320	chr13:67594613-67594614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557848534	chr13:67594622-67594623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs578067319	chr13:67594623-67594624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs169001	chr13:67594628-67594629	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs557001044	chr13:67594634-67594635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374650246	chr13:67594763-67594764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377379866	chr13:67594780-67594781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575839911	chr13:67594806-67594807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182760365	chr13:67594853-67594854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538607524	chr13:67594863-67594864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562056616	chr13:67594873-67594874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369001819	chr13:67594940-67594941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572232082	chr13:67594950-67594951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550810126	chr13:67594970-67594971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569304612	chr13:67595008-67595009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541049863	chr13:67595021-67595022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536472670	chr13:67595053-67595054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563948110	chr13:67595056-67595057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532924599	chr13:67595088-67595089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75683509	chr13:67595094-67595095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563327562	chr13:67595097-67595098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186653478	chr13:67595105-67595106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549586816	chr13:67595199-67595200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530068252	chr13:67595225-67595226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377126492	chr13:67595245-67595246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200767898	chr13:67595256-67595257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114677134	chr13:67595289-67595290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552020460	chr13:67595315-67595316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs260171	chr13:67595390-67595391	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs573617451	chr13:67595429-67595430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs148420476	chr13:67595489-67595490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557037742	chr13:67595544-67595545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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

Chromatin state (count:1448 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67589400-67594200	Weak transcription	Brain Angular Gyrus	brain
2	chr13:67591600-67597000	Weak transcription	Brain Hippocampus Middle	brain
3	chr13:67593400-67595600	Weak transcription	Dnd41	blood
4	chr13:67593400-67597000	Weak transcription	Primary B cells from cord blood	blood
5	chr13:67594200-67594400	Enhancers	Brain Angular Gyrus	brain
6	chr13:67595400-67595600	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr13:67595600-67596600	Enhancers	Dnd41	blood
8	chr13:67595800-67598400	Enhancers	Fetal Thymus	thymus
9	chr13:67596400-67597000	Enhancers	Thymus	Thymus
10	chr13:67596600-67597000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr13:67596600-67598600	Flanking Active TSS	Dnd41	blood
12	chr13:67596800-67597800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr13:67596800-67597800	Enhancers	Primary hematopoietic stem cells	blood
14	chr13:67596800-67598400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:67596800-67598400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr13:67597000-67597200	Flanking Active TSS	Thymus	Thymus
17	chr13:67597000-67597400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr13:67597000-67597400	Enhancers	Brain Hippocampus Middle	brain
19	chr13:67597000-67597600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr13:67597000-67597800	Enhancers	H1 Cell Line	embryonic stem cell
21	chr13:67597000-67597800	Enhancers	H9 Cell Line	embryonic stem cell
22	chr13:67597000-67598200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr13:67597000-67598200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr13:67597000-67598200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr13:67597000-67598400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr13:67597000-67598400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr13:67597000-67598400	Enhancers	Primary B cells from cord blood	blood
28	chr13:67597000-67598400	Enhancers	Primary T cells from cord blood	blood
29	chr13:67597000-67598400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr13:67597200-67597400	Enhancers	Thymus	Thymus
31	chr13:67597200-67597800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr13:67597200-67598200	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr13:67597200-67598400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr13:67597200-67598400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr13:67597400-67597600	Enhancers	Brain Substantia Nigra	brain
36	chr13:67597400-67597600	Flanking Active TSS	Thymus	Thymus
37	chr13:67597400-67597800	Enhancers	Muscle Satellite Cultured Cells	--
38	chr13:67597400-67597800	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr13:67597400-67597800	Enhancers	Fetal Kidney	kidney
40	chr13:67597400-67597800	Enhancers	HSMM	muscle
41	chr13:67597400-67598000	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr13:67597400-67598200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr13:67597400-67598400	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr13:67597400-67598400	Enhancers	NH-A	brain
45	chr13:67597400-67598400	Enhancers	Osteobl	bone
46	chr13:67597400-67598800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr13:67597600-67598000	Enhancers	Primary B cells from peripheral blood	blood
48	chr13:67597600-67598000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr13:67597600-67598000	Active TSS	Thymus	Thymus
50	chr13:67597600-67598200	Weak transcription	Brain Substantia Nigra	brain

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