Variant report

Variant	nsv979845
Chromosome Location	chr3:75368363-75381426
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 521 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:521 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76063245	chr3:75368441-75368442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs77386079	chr3:75368478-75368479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73115291	chr3:75368498-75368499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116468108	chr3:75368501-75368502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530325315	chr3:75368536-75368537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147877273	chr3:75368560-75368561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs61126120	chr3:75368563-75368564	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs531097146	chr3:75368591-75368592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552005911	chr3:75368592-75368593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570478616	chr3:75368605-75368606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528099743	chr3:75368606-75368607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546617833	chr3:75368607-75368608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568395075	chr3:75368626-75368627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201850175	chr3:75368630-75368631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189650074	chr3:75368640-75368641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557188792	chr3:75368649-75368650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568980918	chr3:75368663-75368664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs199945681	chr3:75368682-75368683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577561611	chr3:75368683-75368684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558792818	chr3:75368715-75368716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541622679	chr3:75368780-75368781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113286213	chr3:75368782-75368783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181165512	chr3:75368785-75368786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544244420	chr3:75368807-75368808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534742821	chr3:75368809-75368810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552927095	chr3:75368834-75368835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574827257	chr3:75368849-75368850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554093043	chr3:75368920-75368921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563977332	chr3:75368991-75368992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77508388	chr3:75369014-75369015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533288018	chr3:75369015-75369016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546336430	chr3:75369017-75369018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564075145	chr3:75369036-75369037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528174700	chr3:75369047-75369048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143207739	chr3:75369098-75369099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563541305	chr3:75369123-75369124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529278710	chr3:75369204-75369205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528867918	chr3:75369213-75369214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550604470	chr3:75369240-75369241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184083334	chr3:75369259-75369260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548232465	chr3:75369283-75369284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539297378	chr3:75369290-75369291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567988895	chr3:75369388-75369389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551550155	chr3:75369478-75369479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570639069	chr3:75369484-75369485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116185989	chr3:75369533-75369534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375049970	chr3:75369564-75369565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553014916	chr3:75369619-75369620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527515054	chr3:75369648-75369649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547214401	chr3:75369653-75369654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Autism	22102821	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:75359000-75374600	Weak transcription	Pancreas	Pancrea
2	chr3:75362800-75369800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr3:75366000-75369800	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr3:75368800-75370200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:75369000-75370400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr3:75369200-75370000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:75369800-75370000	Enhancers	Primary hematopoietic stem cells	blood
8	chr3:75369800-75370600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr3:75369800-75370600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr3:75369800-75373400	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr3:75370000-75370400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr3:75370000-75370600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:75370200-75370600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr3:75370200-75370800	Enhancers	H9 Cell Line	embryonic stem cell
15	chr3:75370200-75371400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr3:75370400-75372000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr3:75370600-75377200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr3:75370800-75373200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr3:75371400-75371600	Enhancers	Right Atrium	heart
20	chr3:75371400-75372200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr3:75371400-75372200	Enhancers	Fetal Muscle Leg	muscle
22	chr3:75371600-75374600	Weak transcription	Right Atrium	heart
23	chr3:75372000-75372200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr3:75372200-75373600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr3:75373200-75373400	Enhancers	H9 Cell Line	embryonic stem cell
26	chr3:75373400-75374400	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr3:75373600-75373800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr3:75374600-75375000	Enhancers	Pancreas	Pancrea
29	chr3:75374600-75375000	Enhancers	Right Atrium	heart
30	chr3:75374600-75377600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:75374800-75375000	Enhancers	Gastric	stomach
32	chr3:75375000-75376000	Weak transcription	Pancreas	Pancrea
33	chr3:75375000-75382400	Weak transcription	Gastric	stomach
34	chr3:75375800-75376400	Enhancers	Fetal Stomach	stomach
35	chr3:75376000-75376200	Enhancers	Pancreas	Pancrea
36	chr3:75376000-75382800	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr3:75376200-75378200	Active TSS	Pancreas	Pancrea
38	chr3:75376400-75376800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr3:75376600-75376800	Enhancers	Right Atrium	heart
40	chr3:75376600-75377600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr3:75376600-75379400	Enhancers	Fetal Lung	lung
42	chr3:75376800-75377200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr3:75376800-75381600	Weak transcription	Right Atrium	heart
44	chr3:75377000-75377400	Enhancers	H1 Cell Line	embryonic stem cell
45	chr3:75377200-75377400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr3:75377200-75377600	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr3:75377200-75377800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr3:75377400-75377600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
49	chr3:75377400-75377800	Enhancers	Spleen	Spleen
50	chr3:75377400-75378600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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