Variant report

Variant	nsv830442
Chromosome Location	chr5:107539150-107697020
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:44)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:107596085..107596926-chr5:107614295..107614996,3	MCF-7	breast:
2	chr5:107652768..107655007-chr5:107665345..107667956,2	K562	blood:
3	chr5:107695811..107698012-chr5:107701922..107703734,2	K562	blood:
4	chr5:107629129..107630886-chr5:107639365..107641581,2	K562	blood:
5	chr5:107690532..107692643-chr5:107717200..107720124,2	K562	blood:
6	chr5:107560160..107562056-chr5:107581004..107583478,2	MCF-7	breast:
7	chr5:107596383..107598517-chr5:107717279..107719570,2	MCF-7	breast:
8	chr5:107591521..107593328-chr5:107594496..107596431,3	MCF-7	breast:
9	chr5:107678990..107681640-chr5:107716469..107719656,3	MCF-7	breast:
10	chr5:107560160..107562056-chr5:107581004..107583478,2	MCF-7	breast:
11	chr5:107687278..107689541-chr5:107694592..107696182,2	K562	blood:
12	chr5:107578568..107581443-chr5:107714210..107716756,2	MCF-7	breast:
13	chr5:107629129..107630886-chr5:107639365..107641581,2	K562	blood:
14	chr5:107578995..107581468-chr5:107593247..107594790,2	MCF-7	breast:
15	chr5:107674221..107676262-chr5:107681301..107685297,3	K562	blood:
16	chr5:107692103..107694932-chr5:107716321..107718109,2	MCF-7	breast:
17	chr5:107687021..107688771-chr5:107717411..107719935,2	MCF-7	breast:
18	chr5:107596085..107596926-chr5:107614295..107614996,3	MCF-7	breast:
19	chr5:107687278..107689541-chr5:107694592..107696182,2	K562	blood:
20	chr5:107571378..107574700-chr5:107575924..107579397,3	K562	blood:
21	chr5:107696918..107699388-chr5:107716914..107718993,2	K562	blood:
22	chr5:107637065..107639701-chr5:107665572..107668280,2	K562	blood:
23	chr5:107591521..107593328-chr5:107594496..107596431,3	MCF-7	breast:
24	chr5:107593297..107597338-chr5:107716343..107718522,3	MCF-7	breast:
25	chr5:107578995..107581468-chr5:107593247..107594790,2	MCF-7	breast:
26	chr5:107641389..107643591-chr5:107717199..107720025,2	MCF-7	breast:
27	chr5:107673625..107675150-chr5:107717919..107720038,2	K562	blood:
28	chr5:107596357..107597019-chr5:107678266..107678805,2	MCF-7	breast:
29	chr5:107652768..107655007-chr5:107665345..107667956,2	K562	blood:
30	chr5:107571378..107574700-chr5:107575924..107579397,3	K562	blood:
31	chr5:107579943..107582064-chr5:107716302..107718142,2	MCF-7	breast:
32	chr5:107674221..107676262-chr5:107681301..107685297,3	K562	blood:
33	chr5:107662350..107665061-chr5:107666147..107667939,2	MCF-7	breast:
34	chr20:15213744..15214594-chr5:107680986..107681674,2	MCF-7	breast:
35	chr5:107630732..107633907-chr5:107716808..107719263,3	MCF-7	breast:
36	chr5:107696924..107698880-chr5:107700620..107702301,2	MCF-7	breast:
37	chr5:107602916..107603688-chr6:91564315..91565066,2	MCF-7	breast:
38	chr5:107595947..107596960-chr5:107681100..107682005,3	MCF-7	breast:
39	chr5:107662350..107665061-chr5:107666147..107667939,2	MCF-7	breast:
40	chr5:107595024..107598091-chr5:107715832..107718425,3	K562	blood:
41	chr5:107693754..107695689-chr5:107714400..107716161,2	K562	blood:
42	chr5:107595947..107596960-chr5:107681100..107682005,3	MCF-7	breast:
43	chr5:107637065..107639701-chr5:107665572..107668280,2	K562	blood:
44	chr5:107596357..107597019-chr5:107678266..107678805,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145743	chromatin interactions

Extended variants
information (count: 5997 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:5997 , 50 per page) page: 1 2 3 4 5 6 7 ... 120

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187029033	chr5:107539177-107539178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554667897	chr5:107539210-107539211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574578863	chr5:107539213-107539214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543292239	chr5:107539227-107539228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559671314	chr5:107539250-107539251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543314721	chr5:107539288-107539289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563191465	chr5:107539328-107539329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2900121	chr5:107539338-107539339	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs192173867	chr5:107539395-107539396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115263481	chr5:107539433-107539434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2966827	chr5:107539455-107539456	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs561092369	chr5:107539473-107539474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183036112	chr5:107539503-107539504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546805939	chr5:107539599-107539600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143456777	chr5:107539608-107539609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547480040	chr5:107539623-107539624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7712192	chr5:107539775-107539776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372006775	chr5:107539806-107539807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188056768	chr5:107539879-107539880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568844623	chr5:107539908-107539909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78549529	chr5:107539919-107539920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150507843	chr5:107539990-107539991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs193073822	chr5:107539994-107539995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533858609	chr5:107540043-107540044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566025388	chr5:107540162-107540163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2044711	chr5:107540169-107540170	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs548635642	chr5:107540186-107540187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7729743	chr5:107540195-107540196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573306859	chr5:107540211-107540212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545691531	chr5:107540227-107540228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4957745	chr5:107540247-107540248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140039739	chr5:107540261-107540262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35740448	chr5:107540302-107540303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149839798	chr5:107540327-107540328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144793435	chr5:107540393-107540394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556078659	chr5:107540399-107540400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540341672	chr5:107540425-107540426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189263059	chr5:107540426-107540427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139662997	chr5:107540435-107540436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371956202	chr5:107540447-107540448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9942358	chr5:107540468-107540469	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs569224606	chr5:107540507-107540508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142295816	chr5:107540510-107540511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575219476	chr5:107540512-107540513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531615897	chr5:107540515-107540516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9942359	chr5:107540524-107540525	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs568032451	chr5:107540572-107540573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114217772	chr5:107540596-107540597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544729527	chr5:107540614-107540615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528724264	chr5:107540638-107540639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
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
Retinoblastoma	22278416	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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:892 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107495400-107548800	Weak transcription	Pancreas	Pancrea
2	chr5:107511400-107548400	Weak transcription	Primary B cells from cord blood	blood
3	chr5:107516200-107584800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr5:107516800-107551400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr5:107517000-107571800	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr5:107526000-107550800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr5:107535400-107548600	Weak transcription	Fetal Heart	heart
8	chr5:107536000-107548000	Weak transcription	Left Ventricle	heart
9	chr5:107536600-107541600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:107536800-107548200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:107537000-107550600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr5:107537400-107539400	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr5:107539200-107539400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr5:107539400-107551000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr5:107541400-107542400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr5:107541600-107542400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:107542000-107542600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr5:107544200-107550600	Weak transcription	Liver	Liver
19	chr5:107546200-107553200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:107546600-107590800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr5:107547000-107552400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:107547000-107577200	Weak transcription	Fetal Intestine Large	intestine
23	chr5:107547400-107550000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr5:107548000-107548800	Strong transcription	Left Ventricle	heart
25	chr5:107548000-107550600	Weak transcription	Primary T cells from cord blood	blood
26	chr5:107548200-107548400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr5:107548200-107548400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:107548200-107548400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr5:107548200-107548800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:107548200-107549400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:107548200-107549400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr5:107548200-107549400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr5:107548200-107549400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr5:107548400-107548600	ZNF genes & repeats	Primary B cells from cord blood	blood
35	chr5:107548400-107548800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:107548400-107548800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr5:107548400-107549000	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr5:107548400-107549000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr5:107548400-107549000	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr5:107548400-107549000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr5:107548400-107549200	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr5:107548400-107549400	Enhancers	H1 Cell Line	embryonic stem cell
43	chr5:107548400-107549400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr5:107548400-107549400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr5:107548400-107549400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr5:107548400-107549400	ZNF genes & repeats	Fetal Intestine Small	intestine
47	chr5:107548600-107549000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr5:107548600-107549000	Enhancers	Fetal Heart	heart
49	chr5:107548600-107549000	Enhancers	NH-A	brain
50	chr5:107548600-107549200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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