Variant report

Variant	nsv832626
Chromosome Location	chr13:61545191-61698233
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:61229131..61230781-chr13:61693406..61695295,2	MCF-7	breast:
2	chr13:61228579..61229262-chr13:61564112..61564627,2	MCF-7	breast:
3	chr12:122239018..122239524-chr13:61597692..61598542,2	MCF-7	breast:
4	chr13:61228265..61229223-chr13:61563982..61564725,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TDRD3-8	chr13:61696231-61696328	NONHSAT034123

Variant related genes	Relation type
ENSG00000212694	chromatin interactions

Extended variants
information (count: 5853 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:5853 , 50 per page) page: 1 2 3 4 5 6 7 ... 118

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148950727	chr13:61545229-61545230	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552419121	chr13:61545239-61545240	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570834158	chr13:61545257-61545258	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538004929	chr13:61545279-61545280	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549974269	chr13:61545280-61545281	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568207045	chr13:61545307-61545308	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535971377	chr13:61545311-61545312	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs302892	chr13:61545390-61545391	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs572368176	chr13:61545432-61545433	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539468298	chr13:61545469-61545470	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7328316	chr13:61545573-61545574	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs577219694	chr13:61545719-61545720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs302893	chr13:61545738-61545739	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs552773758	chr13:61545756-61545757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191775364	chr13:61545757-61545758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183205232	chr13:61545775-61545776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs56768687	chr13:61545776-61545777	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs541943631	chr13:61545777-61545778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374777742	chr13:61545810-61545811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186303670	chr13:61545811-61545812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144565258	chr13:61545815-61545816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527251862	chr13:61545817-61545818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551761882	chr13:61545861-61545862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564400686	chr13:61545866-61545867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114745974	chr13:61545907-61545908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78253300	chr13:61545912-61545913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537445516	chr13:61545937-61545938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76104048	chr13:61545938-61545939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549961963	chr13:61545964-61545965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568671726	chr13:61545981-61545982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535685280	chr13:61545985-61545986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557363444	chr13:61546023-61546024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547839334	chr13:61546031-61546032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566040905	chr13:61546036-61546037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570940196	chr13:61546037-61546038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539779592	chr13:61546075-61546076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142430885	chr13:61546145-61546146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368670466	chr13:61546146-61546147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372523614	chr13:61546179-61546180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34963684	chr13:61546186-61546187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35488702	chr13:61546187-61546188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34908536	chr13:61546188-61546189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201892689	chr13:61546209-61546210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200317859	chr13:61546211-61546212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7329403	chr13:61546213-61546214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200053767	chr13:61546214-61546215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2770907	chr13:61546215-61546216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200227285	chr13:61546217-61546218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12020751	chr13:61546236-61546237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12021138	chr13:61546237-61546238	Weak transcription	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
small cell lung cancer	20016488	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
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	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
Esophageal squamous carcinoma	20200074	CNVD
Myelofibrosis	22110671	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:233 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:61543600-61545200	Enhancers	Fetal Heart	heart
2	chr13:61544200-61546400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr13:61544400-61545200	Enhancers	Right Ventricle	heart
4	chr13:61545000-61545600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr13:61545200-61546600	Weak transcription	Fetal Heart	heart
6	chr13:61546600-61547600	Enhancers	Fetal Heart	heart
7	chr13:61547200-61547600	Enhancers	Colon Smooth Muscle	Colon
8	chr13:61547600-61548000	Flanking Active TSS	Fetal Heart	heart
9	chr13:61547600-61549800	Weak transcription	Colon Smooth Muscle	Colon
10	chr13:61548000-61548600	Enhancers	Fetal Heart	heart
11	chr13:61548600-61549200	Active TSS	Fetal Heart	heart
12	chr13:61548800-61549600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr13:61549000-61549400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr13:61549200-61551400	Enhancers	Fetal Heart	heart
15	chr13:61549800-61550000	Enhancers	Colon Smooth Muscle	Colon
16	chr13:61551800-61552800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr13:61552800-61564000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr13:61555000-61555200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr13:61576000-61577000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr13:61576800-61577200	Enhancers	H1 Cell Line	embryonic stem cell
21	chr13:61576800-61578200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr13:61577000-61577200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr13:61577200-61577400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr13:61577400-61578400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr13:61578000-61578200	Enhancers	Spleen	Spleen
26	chr13:61579600-61584800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr13:61580600-61582400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
28	chr13:61584800-61602400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr13:61587400-61589000	Enhancers	Fetal Heart	heart
30	chr13:61587600-61589000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr13:61587800-61589000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr13:61588000-61589200	Enhancers	Brain Cingulate Gyrus	brain
33	chr13:61588800-61589400	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr13:61588800-61589400	Enhancers	Brain Substantia Nigra	brain
35	chr13:61589000-61591600	Weak transcription	Fetal Heart	heart
36	chr13:61593600-61595400	Weak transcription	Fetal Heart	heart
37	chr13:61595400-61596200	Enhancers	Fetal Lung	lung
38	chr13:61595400-61596400	Enhancers	Fetal Heart	heart
39	chr13:61596400-61599400	Weak transcription	Fetal Heart	heart
40	chr13:61597800-61598200	Enhancers	Brain Anterior Caudate	brain
41	chr13:61597800-61598200	Enhancers	Brain Substantia Nigra	brain
42	chr13:61597800-61598600	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr13:61597800-61598800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr13:61597800-61599400	Enhancers	Brain Hippocampus Middle	brain
45	chr13:61598000-61598800	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr13:61598200-61598600	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr13:61598200-61602800	Weak transcription	Brain Anterior Caudate	brain
48	chr13:61598200-61603000	Weak transcription	Brain Substantia Nigra	brain
49	chr13:61598600-61599000	Enhancers	Brain Cingulate Gyrus	brain
50	chr13:61598800-61602800	Weak transcription	Brain Inferior Temporal Lobe	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links