Variant report

Variant	nsv1015349
Chromosome Location	chr5:75439222-75450132
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:75435891..75438461-chr5:75439201..75442019,2	K562	blood:
2	chr5:75441859..75445534-chr5:75469171..75472141,3	K562	blood:

Variant related genes	Relation type
ENSG00000254893	chromatin interactions

Extended variants
information (count: 459 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:459 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6453205	chr5:75439222-75439223	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs149263713	chr5:75439245-75439246	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538828997	chr5:75439267-75439268	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75936767	chr5:75439292-75439293	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144456397	chr5:75439367-75439368	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575348494	chr5:75439385-75439386	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139435888	chr5:75439428-75439429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6453206	chr5:75439460-75439461	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs75837044	chr5:75439481-75439482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564995483	chr5:75439485-75439486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573605922	chr5:75439536-75439537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554452304	chr5:75439544-75439545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145317287	chr5:75439554-75439555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147217527	chr5:75439560-75439561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs55807157	chr5:75439589-75439590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1423106	chr5:75439613-75439614	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs186208310	chr5:75439678-75439679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553676076	chr5:75439688-75439689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74762433	chr5:75439690-75439691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560954888	chr5:75439732-75439733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575348708	chr5:75439739-75439740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200309735	chr5:75439837-75439838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145643518	chr5:75439838-75439839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145815011	chr5:75439839-75439840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35357454	chr5:75439895-75439896	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs77037061	chr5:75439896-75439897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566779477	chr5:75439906-75439907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140558544	chr5:75439913-75439914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560925483	chr5:75439920-75439921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs117498870	chr5:75439924-75439925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114491383	chr5:75439938-75439939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554656126	chr5:75439941-75439942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568416492	chr5:75439970-75439971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs74290941	chr5:75439971-75439972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs72771998	chr5:75439982-75439983	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs79555736	chr5:75439990-75439991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532558429	chr5:75440022-75440023	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs142169650	chr5:75440034-75440035	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs191465465	chr5:75440045-75440046	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs67205713	chr5:75440100-75440101	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs76589379	chr5:75440103-75440104	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs151188977	chr5:75440118-75440119	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs17651115	chr5:75440130-75440131	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs181488319	chr5:75440134-75440135	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs117658713	chr5:75440136-75440137	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs529725044	chr5:75440193-75440194	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs540236337	chr5:75440257-75440258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542713679	chr5:75440260-75440261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559925634	chr5:75440302-75440303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550731893	chr5:75440325-75440326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	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
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Spinal muscular atrophy	21762474	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
Non-small cell lung cancer	21829676	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
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17133270	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Schizophrenia	23813976	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75438000-75440400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:75439200-75439400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:75439400-75439600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr5:75439600-75441400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr5:75439800-75442400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr5:75440000-75440200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
7	chr5:75440000-75440600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr5:75440000-75441800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:75440200-75442200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr5:75440400-75440600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:75440400-75442200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr5:75440400-75442600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr5:75440600-75440800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr5:75440600-75441000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:75440800-75442400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr5:75441000-75441600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr5:75441000-75441800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr5:75441000-75441800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:75441400-75442200	Enhancers	H9 Cell Line	embryonic stem cell
20	chr5:75441400-75442400	Enhancers	H1 Cell Line	embryonic stem cell
21	chr5:75442200-75449800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr5:75442400-75443200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr5:75442600-75443200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr5:75443200-75443400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr5:75443200-75443400	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr5:75443200-75443400	Enhancers	Pancreas	Pancrea
27	chr5:75443200-75445400	Enhancers	Ovary	ovary
28	chr5:75443400-75444000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr5:75443400-75444600	Weak transcription	Pancreas	Pancrea
30	chr5:75444600-75445400	Enhancers	Pancreas	Pancrea
31	chr5:75444600-75447800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr5:75445400-75447200	Weak transcription	Pancreas	Pancrea
33	chr5:75447200-75447800	Enhancers	Pancreas	Pancrea
34	chr5:75447200-75448800	Enhancers	HUVEC	blood vessel
35	chr5:75447200-75449000	Enhancers	Gastric	stomach
36	chr5:75449200-75449400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr5:75449800-75450600	Enhancers	H9 Cell Line	embryonic stem cell
38	chr5:75449800-75450600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr5:75450000-75450400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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