Variant report

Variant	esv3429316
Chromosome Location	chr5:61730145-61732043
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:61697301..61700669-chr5:61729156..61732578,4	K562	blood:
2	chr5:61705281..61708194-chr5:61728089..61730384,3	K562	blood:
3	chr5:61697950..61699779-chr5:61731524..61733895,2	MCF-7	breast:
4	chr5:61717104..61719301-chr5:61731721..61733854,2	K562	blood:
5	chr5:61730501..61733292-chr5:61772580..61775158,2	K562	blood:

Variant related genes	Relation type
ENSG00000086189	chromatin interactions
ENSG00000086200	chromatin interactions

Extended variants
information (count: 121 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562356640	chr5:61730200-61730201	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs374232777	chr5:61730203-61730204	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs531004169	chr5:61730210-61730211	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs377703437	chr5:61730254-61730255	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs555379237	chr5:61730267-61730268	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs76232354	chr5:61730280-61730281	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs564523123	chr5:61730307-61730308	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs533385222	chr5:61730312-61730313	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs546979064	chr5:61730315-61730316	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs566736698	chr5:61730316-61730317	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs533402361	chr5:61730396-61730397	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs371299804	chr5:61730418-61730419	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs548182962	chr5:61730455-61730456	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs551938542	chr5:61730496-61730497	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs568285153	chr5:61730542-61730543	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs190102252	chr5:61730617-61730618	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs375487866	chr5:61730627-61730628	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs556661676	chr5:61730665-61730666	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs570177967	chr5:61730713-61730714	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs535690325	chr5:61730722-61730723	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs377686828	chr5:61730723-61730724	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs370723500	chr5:61730724-61730725	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs374090647	chr5:61730725-61730726	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs572751011	chr5:61730844-61730845	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs542551789	chr5:61730846-61730847	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs569681674	chr5:61730852-61730853	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs530600360	chr5:61730860-61730861	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs785655	chr5:61730875-61730876	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs181549333	chr5:61730879-61730880	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs567231073	chr5:61730881-61730882	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs534921211	chr5:61730901-61730902	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs168687	chr5:61730911-61730912	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs367642442	chr5:61730915-61730916	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs566399595	chr5:61730920-61730921	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs247487	chr5:61730921-61730922	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs200430386	chr5:61730927-61730928	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs62375038	chr5:61730935-61730936	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs62375039	chr5:61730937-61730938	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs201455254	chr5:61730945-61730946	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs564584357	chr5:61730947-61730948	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs187620	chr5:61730953-61730954	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs202161598	chr5:61730954-61730955	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs371686925	chr5:61730955-61730956	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs571508865	chr5:61730959-61730960	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs373742628	chr5:61730961-61730962	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs7724534	chr5:61730963-61730964	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs200504250	chr5:61730964-61730965	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs375547657	chr5:61730966-61730967	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs367857210	chr5:61730987-61730988	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs371728296	chr5:61730989-61730990	Weak transcription	Chromatin interactive region	2 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
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
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	20729466	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
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61709200-61770800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:61709400-61763400	Weak transcription	Aorta	Aorta
3	chr5:61709600-61738800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr5:61709600-61738800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr5:61709600-61739800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:61709600-61744000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr5:61709800-61738800	Weak transcription	Fetal Kidney	kidney
8	chr5:61709800-61743800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:61709800-61746000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr5:61709800-61746600	Weak transcription	Fetal Thymus	thymus
11	chr5:61709800-61769000	Weak transcription	NH-A	brain
12	chr5:61709800-61809200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr5:61710000-61734200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr5:61710000-61734200	Weak transcription	Fetal Intestine Small	intestine
15	chr5:61710000-61737400	Weak transcription	Fetal Intestine Large	intestine
16	chr5:61710000-61739000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr5:61710000-61746000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr5:61710200-61733400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr5:61710200-61738800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr5:61710200-61746000	Weak transcription	Primary B cells from cord blood	blood
21	chr5:61710400-61733600	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr5:61710400-61739000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:61710400-61746000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr5:61710600-61738800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr5:61710600-61739000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr5:61710600-61739200	Weak transcription	HMEC	breast
27	chr5:61710600-61739200	Weak transcription	NHEK	skin
28	chr5:61710600-61744000	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr5:61710600-61746000	Weak transcription	A549	lung
30	chr5:61710800-61739000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:61710800-61745400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr5:61710800-61746000	Weak transcription	HepG2	liver
33	chr5:61711000-61733400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:61712000-61746000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:61714000-61746600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr5:61715000-61747200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr5:61715200-61738800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr5:61715400-61733000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:61715400-61735600	Weak transcription	Dnd41	blood
40	chr5:61715800-61733400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr5:61715800-61739000	Weak transcription	Hela-S3	cervix
42	chr5:61720800-61733400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr5:61722800-61770600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr5:61725000-61738800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr5:61725800-61747200	Weak transcription	Thymus	Thymus
46	chr5:61726200-61746200	Weak transcription	HUVEC	blood vessel
47	chr5:61726400-61747200	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr5:61727400-61742400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr5:61727600-61730200	Enhancers	Brain Anterior Caudate	brain
50	chr5:61727600-61742600	Weak transcription	Fetal Stomach	stomach

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