Variant report

Variant	nsv4950
Chromosome Location	chr5:107587778-107637348
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:107591521..107593328-chr5:107594496..107596431,3	MCF-7	breast:
2	chr5:107595947..107596960-chr5:107681100..107682005,3	MCF-7	breast:
3	chr5:107596085..107596926-chr5:107614295..107614996,3	MCF-7	breast:
4	chr5:107595024..107598091-chr5:107715832..107718425,3	K562	blood:
5	chr5:107596085..107596926-chr5:107614295..107614996,3	MCF-7	breast:
6	chr5:107591521..107593328-chr5:107594496..107596431,3	MCF-7	breast:
7	chr5:107578995..107581468-chr5:107593247..107594790,2	MCF-7	breast:
8	chr5:107629129..107630886-chr5:107639365..107641581,2	K562	blood:
9	chr5:107596383..107598517-chr5:107717279..107719570,2	MCF-7	breast:
10	chr5:107596357..107597019-chr5:107678266..107678805,2	MCF-7	breast:
11	chr5:107593297..107597338-chr5:107716343..107718522,3	MCF-7	breast:
12	chr5:107602916..107603688-chr6:91564315..91565066,2	MCF-7	breast:
13	chr5:107630732..107633907-chr5:107716808..107719263,3	MCF-7	breast:
14	chr5:107637065..107639701-chr5:107665572..107668280,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000145743	chromatin interactions

Extended variants
information (count: 1856 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1856 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374268246	chr5:107587793-107587794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191045791	chr5:107587797-107587798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537201852	chr5:107587817-107587818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550898790	chr5:107587823-107587824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567539612	chr5:107587828-107587829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536270204	chr5:107587915-107587916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371627055	chr5:107587936-107587937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552969636	chr5:107588019-107588020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs180848533	chr5:107588049-107588050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186728605	chr5:107588060-107588061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558361569	chr5:107588067-107588068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565309470	chr5:107588075-107588076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141447376	chr5:107588090-107588091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577817751	chr5:107588150-107588151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190196698	chr5:107588167-107588168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150829002	chr5:107588173-107588174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574026138	chr5:107588175-107588176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139844249	chr5:107588206-107588207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576814643	chr5:107588209-107588210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116007311	chr5:107588260-107588261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145338972	chr5:107588263-107588264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375678588	chr5:107588271-107588272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565332776	chr5:107588353-107588354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541171294	chr5:107588441-107588442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147859847	chr5:107588516-107588517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550762260	chr5:107588550-107588551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567453212	chr5:107588619-107588620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530047948	chr5:107588646-107588647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72791254	chr5:107588693-107588694	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs566504833	chr5:107588774-107588775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538217491	chr5:107588781-107588782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530091189	chr5:107588817-107588818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549168174	chr5:107588833-107588834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568575929	chr5:107588866-107588867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139760303	chr5:107588893-107588894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71586942	chr5:107588957-107588958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4431329	chr5:107588958-107588959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543346520	chr5:107588959-107588960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183142843	chr5:107589015-107589016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187598510	chr5:107589029-107589030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7721128	chr5:107589055-107589056	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs190509540	chr5:107589130-107589131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565395743	chr5:107589162-107589163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531060953	chr5:107589176-107589177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544699663	chr5:107589192-107589193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561115873	chr5:107589197-107589198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529842054	chr5:107589278-107589279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373695639	chr5:107589325-107589326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566625216	chr5:107589343-107589344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532146811	chr5:107589418-107589419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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

Chromatin state (count:378 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107546600-107590800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr5:107553400-107590800	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr5:107561400-107595000	Weak transcription	Psoas Muscle	Psoas
4	chr5:107575200-107596200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:107575400-107617600	Weak transcription	Primary B cells from cord blood	blood
6	chr5:107575600-107595000	Weak transcription	Right Ventricle	heart
7	chr5:107576800-107595200	Weak transcription	Fetal Intestine Small	intestine
8	chr5:107577000-107616000	Weak transcription	Primary T cells from cord blood	blood
9	chr5:107579800-107589200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr5:107585000-107617800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:107585400-107591200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr5:107586000-107591400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr5:107586200-107589000	Enhancers	Fetal Heart	heart
14	chr5:107586200-107595000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr5:107587200-107588800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:107587400-107591000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr5:107587800-107595000	Weak transcription	Liver	Liver
18	chr5:107588200-107589800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr5:107588400-107588600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:107588400-107589200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr5:107588400-107589200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr5:107588400-107589400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr5:107588400-107589400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr5:107588400-107589600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr5:107588800-107589200	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr5:107588800-107594800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:107589000-107590600	Weak transcription	Fetal Heart	heart
28	chr5:107589200-107589400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:107589200-107589400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr5:107589200-107595800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr5:107589400-107589800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr5:107589400-107589800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr5:107589400-107595000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr5:107589400-107595200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr5:107589600-107595200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr5:107589800-107595200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr5:107590600-107591800	Enhancers	Fetal Heart	heart
38	chr5:107591000-107592000	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr5:107591200-107591800	Enhancers	Fetal Muscle Leg	muscle
40	chr5:107591200-107592000	Enhancers	Fetal Intestine Large	intestine
41	chr5:107591200-107592200	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr5:107591400-107591600	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr5:107591400-107592000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr5:107591600-107591800	Enhancers	Ovary	ovary
45	chr5:107591600-107592000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr5:107591800-107593600	Weak transcription	Fetal Heart	heart
47	chr5:107591800-107596200	Weak transcription	Ovary	ovary
48	chr5:107592000-107593800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr5:107592000-107593800	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr5:107592000-107595000	Weak transcription	Fetal Intestine Large	intestine

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