Variant report

Variant	nsv1029060
Chromosome Location	chr5:27313831-27411288
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:21)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:27367781..27370478-chr5:27378982..27381299,2	MCF-7	breast:
2	chr5:27410717..27413698-chr5:27423274..27425658,2	K562	blood:
3	chr5:27356861..27358465-chr5:27382622..27384445,2	K562	blood:
4	chr1:121484566..121485406-chr5:27325124..27325624,2	MCF-7	breast:
5	chr5:27314869..27317667-chr5:27318478..27321360,2	K562	blood:
6	chr5:27384451..27386814-chr5:27398781..27400428,2	K562	blood:
7	chr3:133852407..133853154-chr5:27377165..27378018,2	MCF-7	breast:
8	chr5:27307208..27308729-chr5:27311551..27314257,2	K562	blood:
9	chr5:27314869..27317667-chr5:27318478..27321360,2	K562	blood:
10	chr5:27384539..27388630-chr5:27389237..27391656,3	K562	blood:
11	chr5:27307590..27311526-chr5:27313597..27315707,3	K562	blood:
12	chr5:27219696..27221313-chr5:27313999..27316596,2	K562	blood:
13	chr5:27386479..27389149-chr5:27394969..27398145,3	K562	blood:
14	chr5:27384451..27386814-chr5:27398781..27400428,2	K562	blood:
15	chr5:27330938..27332743-chr5:27335192..27337537,2	MCF-7	breast:
16	chr5:27367781..27370478-chr5:27378982..27381299,2	MCF-7	breast:
17	chr5:27356861..27358465-chr5:27382622..27384445,2	K562	blood:
18	chr5:27384539..27388630-chr5:27389237..27391656,3	K562	blood:
19	chr5:27386479..27389149-chr5:27394969..27398145,3	K562	blood:
20	chr5:27226976..27228846-chr5:27344849..27346481,2	K562	blood:
21	chr5:27330938..27332743-chr5:27335192..27337537,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDH9-2	chr5:27410327-27410387	XLOC_004761
2	lnc-CDH9-2	chr5:27406639-27406877	XLOC_004761
3	lnc-CDH9-2	chr5:27406639-27406877	XLOC_004761
4	lnc-CDH9-2	chr5:27406639-27406877	XLOC_004761
5	lnc-CDH9-2	chr5:27409693-27409751	XLOC_004761
6	lnc-CDH9-2	chr5:27406640-27406877	XLOC_004761

No data

Variant related genes	Relation type
CHEK1	miRNA target sites
YWHAQ	miRNA target sites

Extended variants
information (count: 1501 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1501 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76224283	chr5:27313831-27313832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532871449	chr5:27313860-27313861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560161979	chr5:27313874-27313875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527420429	chr5:27313917-27313918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184661307	chr5:27313918-27313919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143310887	chr5:27313920-27313921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138001410	chr5:27313975-27313976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188735512	chr5:27313994-27313995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201721853	chr5:27314038-27314039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574001514	chr5:27314046-27314047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191315038	chr5:27314050-27314051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183781272	chr5:27314089-27314090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560073807	chr5:27314111-27314112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143573894	chr5:27314119-27314120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571582425	chr5:27314147-27314148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539793812	chr5:27314163-27314164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189303567	chr5:27314164-27314165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374500558	chr5:27314206-27314207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566940807	chr5:27314241-27314242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368718925	chr5:27314264-27314265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73065911	chr5:27314286-27314287	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs1459736	chr5:27314312-27314313	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs140253391	chr5:27314320-27314321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538060081	chr5:27314323-27314324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10077689	chr5:27314330-27314331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1459737	chr5:27314365-27314366	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs10077746	chr5:27314411-27314412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73065917	chr5:27314475-27314476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182049399	chr5:27314499-27314500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142068201	chr5:27314519-27314520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565413983	chr5:27314604-27314605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112880830	chr5:27314615-27314616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542404895	chr5:27314654-27314655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150790009	chr5:27314672-27314673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544350339	chr5:27314697-27314698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531492555	chr5:27314712-27314713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112348867	chr5:27314722-27314723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552015250	chr5:27314796-27314797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565157565	chr5:27314825-27314826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532338946	chr5:27314880-27314881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs367739856	chr5:27314889-27314890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187655808	chr5:27314944-27314945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1904449	chr5:27314969-27314970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534204824	chr5:27314971-27314972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10942243	chr5:27314991-27314992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567439248	chr5:27315006-27315007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534438140	chr5:27315011-27315012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs139216531	chr5:27315068-27315069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34632857	chr5:27315089-27315090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs578183020	chr5:27315127-27315128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
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
Lung cancer	16740712	CNVD
Renal cell carcinoma	18194544	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
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:27311200-27317800	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr5:27312000-27315400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:27312200-27315200	Weak transcription	NHEK	skin
4	chr5:27312200-27315400	Weak transcription	HMEC	breast
5	chr5:27312200-27316000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:27312800-27315000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:27312800-27315200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:27312800-27315400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:27312800-27320600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr5:27313000-27316200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr5:27313200-27315200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:27313200-27315200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr5:27313400-27315600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr5:27313600-27315400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr5:27313800-27314200	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr5:27314600-27314800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:27314800-27316000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:27315000-27315800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:27315000-27316000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:27315200-27315600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr5:27315200-27316000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:27315200-27316000	Enhancers	Hela-S3	cervix
23	chr5:27315200-27316000	Enhancers	Osteobl	bone
24	chr5:27315200-27316200	Enhancers	Placenta Amnion	Placenta Amnion
25	chr5:27315200-27316600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr5:27315200-27316600	Enhancers	NH-A	brain
27	chr5:27315200-27316800	Enhancers	NHEK	skin
28	chr5:27315200-27317000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr5:27315200-27317600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr5:27315200-27317800	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr5:27315400-27316000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:27315400-27316600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr5:27315400-27316600	Enhancers	HMEC	breast
34	chr5:27315400-27316800	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr5:27315400-27316800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr5:27315400-27316800	Enhancers	Fetal Heart	heart
37	chr5:27315400-27317000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:27315600-27315800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr5:27315600-27316800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:27315600-27317400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr5:27315600-27317800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr5:27315800-27316000	Enhancers	Muscle Satellite Cultured Cells	--
43	chr5:27315800-27316800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:27316000-27316400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:27316000-27316400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:27316000-27316400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:27316000-27316400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr5:27316000-27316400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr5:27316000-27316400	Flanking Active TSS	Hela-S3	cervix
50	chr5:27316000-27316400	Enhancers	HSMM	muscle

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