Variant report

Variant	nsv10745
Chromosome Location	chr5:115519518-115541964
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:115527000-115527150	GM06990	blood:	n/a	n/a
2	CTCF	chr5:115526780-115526930	HepG2	liver:	n/a	n/a
3	GATA3	chr5:115532827-115533270	SK-N-SH	brain:	n/a	n/a
4	GATA3	chr5:115540807-115540886	SH-SY5Y	brain:	n/a	n/a
5	GATA3	chr5:115532851-115533266	SK-N-SH	brain:	n/a	n/a
6	GATA3	chr5:115532809-115533271	MCF-7	breast:	n/a	n/a
7	GTF2F1	chr5:115527179-115527209	H1-hESC	embryonic stem cell:	n/a	n/a
8	JUN	chr5:115541691-115541827	HepG2	liver:	n/a	chr5:115541725-115541738
9	POLR2A	chr5:115533530-115533551	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr5:115529315-115529431	GM12878	blood:	n/a	n/a
11	POLR2A	chr5:115527331-115527464	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr5:115525744-115525813	ProgFib	skin:	n/a	n/a
13	POLR2A	chr5:115529090-115529122	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr5:115534330-115534480	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr5:115523324-115523484	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr5:115524379-115524454	Gliobla	brain:	n/a	n/a
17	STAT3	chr5:115520278-115520444	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:115523919..115526832-chr5:115553749..115555427,2	MCF-7	breast:
2	chr5:115512590..115515778-chr5:115516651..115520258,3	MCF-7	breast:

Variant related genes	Relation type
RNU6-644P	TF binding region
ENSG00000232916	chromatin interactions

Extended variants
information (count: 1208 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:1208 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540662863	chr5:115519526-115519527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561284349	chr5:115519562-115519563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187984008	chr5:115519567-115519568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75036073	chr5:115519585-115519586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs71590742	chr5:115519696-115519697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4286716	chr5:115519697-115519698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
7	rs532674679	chr5:115519700-115519701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181210005	chr5:115519711-115519712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566162733	chr5:115519753-115519754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11241374	chr5:115519754-115519755	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs186403102	chr5:115519772-115519773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568737063	chr5:115519808-115519809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11241375	chr5:115519813-115519814	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs557146172	chr5:115519821-115519822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113283381	chr5:115519843-115519844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149307375	chr5:115519869-115519870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144282273	chr5:115519871-115519872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190038344	chr5:115519887-115519888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201037721	chr5:115519912-115519913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142681753	chr5:115519916-115519917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77502912	chr5:115519917-115519918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs199804213	chr5:115519919-115519920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs4507525	chr5:115519943-115519944	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs572044508	chr5:115519971-115519972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148337565	chr5:115519977-115519978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373915513	chr5:115519983-115519984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538030886	chr5:115519997-115519998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115574872	chr5:115519998-115519999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs4608961	chr5:115520002-115520003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543712178	chr5:115520007-115520008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149703070	chr5:115520012-115520013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78956606	chr5:115520022-115520023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs199584553	chr5:115520023-115520024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533095974	chr5:115520024-115520025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563552701	chr5:115520110-115520111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373159482	chr5:115520127-115520128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs34100236	chr5:115520136-115520137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs4403214	chr5:115520149-115520150	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs376055314	chr5:115520153-115520154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546009812	chr5:115520187-115520188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559932064	chr5:115520191-115520192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs10054966	chr5:115520196-115520197	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs548569770	chr5:115520234-115520235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146290776	chr5:115520241-115520242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530915939	chr5:115520298-115520299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139531888	chr5:115520307-115520308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545914991	chr5:115520317-115520318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs144476757	chr5:115520323-115520324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539693687	chr5:115520343-115520344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564524122	chr5:115520394-115520395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	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
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
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Ependymoma	20639864	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:172 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115471600-115521600	Weak transcription	Primary B cells from peripheral blood	blood
2	chr5:115481400-115536000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr5:115484400-115521400	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr5:115489200-115526800	Weak transcription	Pancreas	Pancrea
5	chr5:115489800-115528600	Weak transcription	Ovary	ovary
6	chr5:115490000-115524400	Weak transcription	Left Ventricle	heart
7	chr5:115494600-115522200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr5:115495200-115521600	Weak transcription	Adipose Nuclei	Adipose
9	chr5:115495200-115524400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr5:115497400-115528800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:115499200-115527400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr5:115502400-115524400	Weak transcription	Fetal Intestine Large	intestine
13	chr5:115502400-115526400	Weak transcription	Lung	lung
14	chr5:115502800-115521600	Weak transcription	Primary T cells from cord blood	blood
15	chr5:115508800-115529200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr5:115509200-115528400	Weak transcription	A549	lung
17	chr5:115509600-115533400	Weak transcription	HSMM	muscle
18	chr5:115510200-115521400	Weak transcription	Liver	Liver
19	chr5:115510200-115521600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr5:115510200-115522000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr5:115510400-115522000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:115510400-115524600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr5:115510400-115526200	Weak transcription	Brain Hippocampus Middle	brain
24	chr5:115510400-115526800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:115511800-115533200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:115512000-115529200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr5:115512200-115521600	Weak transcription	Primary B cells from cord blood	blood
28	chr5:115512200-115526800	Weak transcription	Fetal Intestine Small	intestine
29	chr5:115515000-115521600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr5:115517400-115526800	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr5:115518200-115521400	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr5:115518200-115529000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:115518400-115522200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr5:115518400-115524200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr5:115518600-115519600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr5:115518800-115529400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr5:115518800-115529800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr5:115518800-115548000	Weak transcription	Psoas Muscle	Psoas
39	chr5:115519000-115520000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr5:115519600-115520400	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr5:115519800-115524400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr5:115520200-115520400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr5:115520200-115521000	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr5:115520200-115526400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr5:115520400-115524800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr5:115520400-115528800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr5:115520800-115524200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr5:115520800-115524400	Weak transcription	Fetal Muscle Leg	muscle
49	chr5:115520800-115527000	Weak transcription	Fetal Muscle Trunk	muscle
50	chr5:115521000-115523200	Weak transcription	Placenta	Placenta

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