Variant report

Variant	nsv525210
Chromosome Location	chr5:29176529-29194872
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:7)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:28932533..28934760-chr5:29193358..29195088,2	K562	blood:
2	chr5:29191166..29194055-chr5:29197511..29200144,2	MCF-7	breast:
3	chr5:28809387..28811298-chr5:29193650..29195834,2	K562	blood:
4	chr5:29176140..29178605-chr5:29180488..29182983,2	K562	blood:
5	chr5:29176140..29178605-chr5:29180488..29182983,2	K562	blood:
6	chr5:29192802..29195589-chr5:29735604..29737359,2	K562	blood:
7	chr5:29173081..29175967-chr5:29178841..29180963,2	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDH6-2	chr5:29176999-29177040	XLOC_004325
2	lnc-CDH6-2	chr5:29176999-29177040	XLOC_004325
3	lnc-CDH6-2	chr5:29183412-29183428	XLOC_004325
4	lnc-CDH6-2	chr5:29183412-29183428	XLOC_004325
5	lnc-CDH6-2	chr5:29176999-29177040	XLOC_004325
6	lnc-CDH6-2	chr5:29183411-29183428	NONHSAT100838
7	lnc-CDH9-15	chr5:29177611-29178110	l_2894_chr5:29177610-29179278_testes
8	lnc-CDH6-2	chr5:29176998-29177040	NONHSAT100838
9	lnc-CDH9-15	chr5:29179050-29179278	l_2894_chr5:29177610-29179278_testes

No data

Variant related genes	Relation type
PRR5L	miRNA target sites

Extended variants
information (count: 622 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:622 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10065134	chr5:29176529-29176530	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543044279	chr5:29176562-29176563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs56258408	chr5:29176578-29176579	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs111410045	chr5:29176624-29176625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187202092	chr5:29176633-29176634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565593215	chr5:29176634-29176635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527937338	chr5:29176662-29176663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549582421	chr5:29176669-29176670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561585312	chr5:29176676-29176677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567985871	chr5:29176680-29176681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs60579207	chr5:29176703-29176704	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs556545163	chr5:29176713-29176714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs58627079	chr5:29176716-29176717	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs538607003	chr5:29176722-29176723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192087789	chr5:29176724-29176725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572195812	chr5:29176786-29176787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144011448	chr5:29176798-29176799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148535455	chr5:29176820-29176821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs16898768	chr5:29176826-29176827	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs550019684	chr5:29176849-29176850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs112526520	chr5:29176888-29176889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1478869	chr5:29176909-29176910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540667320	chr5:29176930-29176931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145408201	chr5:29176959-29176960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs116445090	chr5:29176965-29176966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529791012	chr5:29176969-29176970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548277935	chr5:29177046-29177047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs59298195	chr5:29177104-29177105	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs150932941	chr5:29177148-29177149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs13176621	chr5:29177166-29177167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs13176622	chr5:29177169-29177170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs13156572	chr5:29177216-29177217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs13176751	chr5:29177217-29177218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531900356	chr5:29177231-29177232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550449662	chr5:29177282-29177283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570086955	chr5:29177333-29177334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186015893	chr5:29177363-29177364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190420682	chr5:29177371-29177372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535656387	chr5:29177403-29177404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547457248	chr5:29177429-29177430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs6861134	chr5:29177459-29177460	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs536371084	chr5:29177460-29177461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs376225501	chr5:29177543-29177544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115540081	chr5:29177659-29177660	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs182612855	chr5:29177670-29177671	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs147678389	chr5:29177716-29177717	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs558859840	chr5:29177748-29177749	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs577055749	chr5:29177756-29177757	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs558902657	chr5:29177761-29177762	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs541047916	chr5:29177824-29177825	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Compulsive disorder	18923513	CNVD
Epilepsy	18923513	CNVD
Prader-willi syndrome	18923513	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20409316	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:29176000-29177000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:29176800-29177200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:29177000-29177800	Enhancers	Colon Smooth Muscle	Colon
4	chr5:29177000-29185800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:29177800-29178400	Weak transcription	Colon Smooth Muscle	Colon
6	chr5:29178400-29178600	Enhancers	Colon Smooth Muscle	Colon
7	chr5:29185800-29186200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:29186200-29186600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:29191600-29191800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr5:29191600-29191800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr5:29191800-29192200	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr5:29191800-29192200	Active TSS	H9 Cell Line	embryonic stem cell
13	chr5:29191800-29192200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr5:29191800-29192200	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr5:29191800-29192200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr5:29191800-29192200	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr5:29191800-29192200	Active TSS	Rectal Mucosa Donor 31	rectum
18	chr5:29191800-29192200	Active TSS	Hela-S3	cervix
19	chr5:29191800-29192200	Active TSS	HepG2	liver
20	chr5:29191800-29192600	Active TSS	K562	blood
21	chr5:29192200-29193400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr5:29192200-29193600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr5:29192200-29193800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr5:29192200-29193800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr5:29192200-29194400	Enhancers	Hela-S3	cervix
26	chr5:29193400-29194000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr5:29193400-29194200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr5:29193600-29194000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr5:29193800-29194200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr5:29193800-29194200	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr5:29193800-29194400	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr5:29193800-29194600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr5:29193800-29194800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:29194000-29194600	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr5:29194200-29197800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr5:29194400-29197400	Weak transcription	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links