Variant report

Variant	nsv1040715
Chromosome Location	chr13:67668189-67699198
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:67681587..67685897-chr13:67688405..67692463,6	K562	blood:
2	chr13:67674917..67677595-chr13:67687583..67689856,3	K562	blood:
3	chr13:67687472..67689479-chr13:67704392..67705946,2	K562	blood:
4	chr13:67660306..67662402-chr13:67696166..67698306,2	K562	blood:
5	chr13:67674917..67677595-chr13:67687583..67689856,3	K562	blood:
6	chr13:67673168..67676018-chr13:67680338..67682100,2	K562	blood:
7	chr13:67673168..67676018-chr13:67680338..67682100,2	K562	blood:
8	chr13:67695998..67698789-chr13:67699013..67700576,2	K562	blood:
9	chr13:67686713..67688646-chr13:67690649..67692733,2	K562	blood:
10	chr13:67681587..67685897-chr13:67688405..67692463,6	K562	blood:
11	chr13:67695998..67698789-chr13:67699013..67700576,2	K562	blood:
12	chr13:67686001..67691093-chr13:67707345..67712221,5	K562	blood:
13	chr13:67675315..67677350-chr13:67683836..67685961,2	K562	blood:
14	chr13:67698083..67700641-chr13:67703157..67705033,2	K562	blood:
15	chr13:67686150..67689268-chr13:67693283..67697595,5	K562	blood:
16	chr13:67686150..67689268-chr13:67693283..67697595,5	K562	blood:
17	chr13:67675315..67677350-chr13:67683836..67685961,2	K562	blood:
18	chr13:67618768..67621421-chr13:67666837..67668518,2	K562	blood:
19	chr13:67685964..67690654-chr13:67706296..67711657,6	K562	blood:
20	chr13:67686713..67688646-chr13:67690649..67692733,2	K562	blood:

No data

Extended variants
information (count: 1057 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1057 , 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	rs540190837	chr13:67668189-67668190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555925291	chr13:67668192-67668193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560300697	chr13:67668208-67668209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532236346	chr13:67668209-67668210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552784057	chr13:67668220-67668221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569330708	chr13:67668242-67668243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76785282	chr13:67668271-67668272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548622890	chr13:67668300-67668301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs202181200	chr13:67668330-67668331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568366985	chr13:67668343-67668344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184125768	chr13:67668401-67668402	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367564999	chr13:67668444-67668445	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550575094	chr13:67668474-67668475	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371322113	chr13:67668482-67668483	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570657512	chr13:67668506-67668507	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187957273	chr13:67668512-67668513	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368107207	chr13:67668533-67668534	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375582702	chr13:67668563-67668564	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144577876	chr13:67668613-67668614	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554908305	chr13:67668628-67668629	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574746373	chr13:67668631-67668632	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540272815	chr13:67668643-67668644	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372388171	chr13:67668652-67668653	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542014793	chr13:67668653-67668654	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376043978	chr13:67668675-67668676	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532275265	chr13:67668710-67668711	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545565535	chr13:67668748-67668749	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78291975	chr13:67668791-67668792	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569954685	chr13:67668798-67668799	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567887163	chr13:67668801-67668802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531815080	chr13:67668849-67668850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548721574	chr13:67668854-67668855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140121273	chr13:67668855-67668856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192407123	chr13:67668911-67668912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547413706	chr13:67668914-67668915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185048606	chr13:67668918-67668919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7983779	chr13:67669007-67669008	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs550032026	chr13:67669066-67669067	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs570089205	chr13:67669124-67669125	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs537656630	chr13:67669155-67669156	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs554796733	chr13:67669164-67669165	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs574834378	chr13:67669188-67669189	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs534059345	chr13:67669200-67669201	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs972419	chr13:67669203-67669204	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs551810769	chr13:67669228-67669229	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs576779776	chr13:67669280-67669281	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs150319091	chr13:67669378-67669379	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs189059297	chr13:67669400-67669401	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs577545654	chr13:67669438-67669439	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs116843472	chr13:67669563-67669564	Weak transcription Enhancers Active TSS	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:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67663400-67668600	Weak transcription	Brain Anterior Caudate	brain
2	chr13:67665400-67668200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr13:67665800-67668200	Weak transcription	Brain Hippocampus Middle	brain
4	chr13:67665800-67668400	Weak transcription	Brain Angular Gyrus	brain
5	chr13:67665800-67673000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr13:67666200-67675000	Weak transcription	HSMMtube	muscle
7	chr13:67666800-67668600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr13:67667000-67668200	Weak transcription	A549	lung
9	chr13:67667800-67678600	Enhancers	Brain Substantia Nigra	brain
10	chr13:67668200-67668400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr13:67668200-67669000	Enhancers	A549	lung
12	chr13:67668200-67670800	Enhancers	Brain Hippocampus Middle	brain
13	chr13:67668400-67668800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr13:67668400-67669200	Enhancers	Adipose Nuclei	Adipose
15	chr13:67668400-67669600	Enhancers	Brain Angular Gyrus	brain
16	chr13:67668600-67670800	Enhancers	Brain Anterior Caudate	brain
17	chr13:67668600-67671000	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr13:67668800-67670000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr13:67669000-67669400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:67669000-67670400	Active TSS	A549	lung
21	chr13:67669200-67676000	Weak transcription	Adipose Nuclei	Adipose
22	chr13:67669400-67674600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr13:67669600-67670000	Weak transcription	Brain Angular Gyrus	brain
24	chr13:67669800-67673800	Enhancers	Hela-S3	cervix
25	chr13:67670000-67670200	Enhancers	Brain Angular Gyrus	brain
26	chr13:67670000-67671800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr13:67670200-67671000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr13:67670200-67671000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr13:67670200-67672000	Weak transcription	Brain Angular Gyrus	brain
30	chr13:67670400-67670800	Flanking Active TSS	A549	lung
31	chr13:67670600-67670800	Enhancers	K562	blood
32	chr13:67670800-67671600	Active TSS	A549	lung
33	chr13:67670800-67671800	Weak transcription	Brain Hippocampus Middle	brain
34	chr13:67670800-67672000	Weak transcription	Brain Anterior Caudate	brain
35	chr13:67670800-67677800	Weak transcription	K562	blood
36	chr13:67671000-67671400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr13:67671000-67675000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr13:67671000-67676000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr13:67671400-67672600	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr13:67671600-67672000	Flanking Active TSS	A549	lung
41	chr13:67671800-67672400	Enhancers	Brain Hippocampus Middle	brain
42	chr13:67671800-67673000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr13:67672000-67672600	Enhancers	Brain Angular Gyrus	brain
44	chr13:67672000-67673400	Enhancers	Brain Anterior Caudate	brain
45	chr13:67672000-67677600	Active TSS	A549	lung
46	chr13:67672400-67673200	Weak transcription	Brain Hippocampus Middle	brain
47	chr13:67672600-67674600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr13:67672600-67674800	Weak transcription	Brain Angular Gyrus	brain
49	chr13:67672800-67676400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr13:67673000-67674400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links