Variant report

Variant	esv18363
Chromosome Location	chr5:60131840-60132920
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:60132825..60135249-chr5:60136200..60138330,2	K562	blood:
2	chr5:60131900..60133961-chr5:60138518..60140783,2	MCF-7	breast:
3	chr5:60100541..60102761-chr5:60130219..60132557,2	K562	blood:

Variant related genes	Relation type
ENSG00000164181	chromatin interactions

Extended variants
information (count: 35 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6881960	chr5:60131843-60131844	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529914187	chr5:60131846-60131847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs17332108	chr5:60131884-60131885	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs35104080	chr5:60131945-60131946	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs6881713	chr5:60131946-60131947	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs574441265	chr5:60131953-60131954	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs201499086	chr5:60131969-60131970	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs56746311	chr5:60131970-60131971	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs397748295	chr5:60131982-60131983	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs201197451	chr5:60131983-60131984	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs202205202	chr5:60131987-60131988	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs539129563	chr5:60132016-60132017	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs183195292	chr5:60132083-60132084	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs566085390	chr5:60132112-60132113	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs534684711	chr5:60132140-60132141	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs555262639	chr5:60132143-60132144	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs575018646	chr5:60132212-60132213	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs535561920	chr5:60132235-60132236	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs111484341	chr5:60132248-60132249	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs141524143	chr5:60132251-60132252	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs575773811	chr5:60132252-60132253	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs529563596	chr5:60132256-60132257	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs544714520	chr5:60132263-60132264	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs564591592	chr5:60132276-60132277	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs527303114	chr5:60132282-60132283	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs540634482	chr5:60132318-60132319	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs561269864	chr5:60132430-60132431	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs529923385	chr5:60132491-60132492	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs150840115	chr5:60132492-60132493	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs569854407	chr5:60132535-60132536	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs532302636	chr5:60132541-60132542	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs547751796	chr5:60132599-60132600	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs552705101	chr5:60132601-60132602	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs566146806	chr5:60132629-60132630	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs566299615	chr5:60132679-60132680	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	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
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	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
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Contiguous gene syndrome	19525295	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60102200-60137800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:60120800-60132200	Weak transcription	K562	blood
3	chr5:60124000-60133600	Weak transcription	Pancreas	Pancrea
4	chr5:60127000-60133600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:60129400-60133400	Weak transcription	Fetal Intestine Large	intestine
6	chr5:60129400-60137200	Weak transcription	Fetal Intestine Small	intestine
7	chr5:60131000-60132600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:60131200-60132000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:60131200-60132400	Enhancers	A549	lung
10	chr5:60131200-60132600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:60131200-60134600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr5:60131400-60132000	Enhancers	HSMM	muscle
13	chr5:60131400-60132400	Enhancers	NHEK	skin
14	chr5:60131600-60132000	Enhancers	HMEC	breast
15	chr5:60131600-60133600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:60131600-60133600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:60131600-60134000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr5:60131600-60134400	Enhancers	H1 Cell Line	embryonic stem cell
19	chr5:60131600-60134400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr5:60131800-60132000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr5:60131800-60133000	Enhancers	H9 Cell Line	embryonic stem cell
22	chr5:60131800-60133000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr5:60131800-60133600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr5:60131800-60134200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr5:60131800-60134400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr5:60132000-60132800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr5:60132000-60133000	Weak transcription	HSMM	muscle
28	chr5:60132000-60133800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:60132000-60138600	Weak transcription	HMEC	breast
30	chr5:60132200-60132400	Enhancers	K562	blood
31	chr5:60132200-60133000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr5:60132400-60133000	Weak transcription	K562	blood
33	chr5:60132400-60133800	Weak transcription	NHEK	skin
34	chr5:60132400-60138600	Weak transcription	A549	lung
35	chr5:60132600-60133600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:60132600-60133600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr5:60132800-60133200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links