Variant report

Variant	nsv876855
Chromosome Location	chr3:60448261-60500549
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:60483853..60486464-chr3:60489187..60492049,2	K562	blood:
2	chr3:60468425..60470651-chr3:60470930..60473335,2	K562	blood:
3	chr3:60500352..60502884-chr3:60536251..60537952,2	K562	blood:
4	chr3:60476221..60479058-chr3:60482642..60484706,2	K562	blood:
5	chr3:60486499..60489215-chr3:60499142..60502130,2	K562	blood:
6	chr3:60467604..60470651-chr3:60470930..60473335,3	K562	blood:
7	chr3:60475674..60478079-chr3:60479619..60482202,2	K562	blood:
8	chr3:60492215..60494697-chr3:60503496..60505338,2	K562	blood:
9	chr3:60486499..60489215-chr3:60499142..60502130,2	K562	blood:
10	chr3:60468425..60470651-chr3:60470930..60473335,2	K562	blood:
11	chr3:60483853..60486464-chr3:60489187..60492049,2	K562	blood:
12	chr3:60467604..60470651-chr3:60470930..60473335,3	K562	blood:
13	chr3:60475674..60478079-chr3:60479619..60482202,2	K562	blood:
14	chr3:60488135..60490633-chr3:60491194..60494068,2	K562	blood:
15	chr3:60488135..60490633-chr3:60491194..60494068,2	K562	blood:
16	chr3:60476221..60479058-chr3:60482642..60484706,2	K562	blood:

No data

Extended variants
information (count: 968 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:968 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184069228	chr3:60448453-60448454	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575655940	chr3:60448454-60448455	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543591845	chr3:60448456-60448457	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531621772	chr3:60448461-60448462	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573856404	chr3:60448464-60448465	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540963087	chr3:60448543-60448544	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559239108	chr3:60448553-60448554	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73833907	chr3:60448563-60448564	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs374108580	chr3:60448569-60448570	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563355651	chr3:60448577-60448578	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188411649	chr3:60448589-60448590	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs378346	chr3:60448591-60448592	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs144978419	chr3:60448655-60448656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs9809480	chr3:60448671-60448672	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs547285779	chr3:60448680-60448681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147560205	chr3:60448709-60448710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565114230	chr3:60448712-60448713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557114568	chr3:60448720-60448721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566192422	chr3:60448721-60448722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569329269	chr3:60448753-60448754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181146070	chr3:60448774-60448775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528650172	chr3:60449215-60449216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150108609	chr3:60449235-60449236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1447970	chr3:60449249-60449250	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs571958957	chr3:60449252-60449253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532899521	chr3:60449253-60449254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138489733	chr3:60449282-60449283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566331126	chr3:60449292-60449293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569189206	chr3:60449310-60449311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536667490	chr3:60449329-60449330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148868297	chr3:60449345-60449346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533917074	chr3:60449360-60449361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566630621	chr3:60449365-60449366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534472207	chr3:60449368-60449369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558365788	chr3:60449374-60449375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs374468872	chr3:60449401-60449402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577513183	chr3:60449418-60449419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs441410	chr3:60449429-60449430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs578154530	chr3:60449445-60449446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182570600	chr3:60449451-60449452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs145466059	chr3:60449464-60449465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575103127	chr3:60449553-60449554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368904269	chr3:60449617-60449618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542609556	chr3:60449650-60449651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs371868126	chr3:60449665-60449666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560924164	chr3:60449680-60449681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs17063215	chr3:60449695-60449696	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs540824319	chr3:60449716-60449717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575505402	chr3:60449727-60449728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs75480726	chr3:60449732-60449733	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	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
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Cancer	18162546	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Urothelial cell carcinoma	18451213	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Mental retardation	17847001	CNVD
Neuroticism	17667963	CNVD
Squamous cell cancer	19047905	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Cancer	20164920	CNVD
Schizophrenia	23813976	CNVD
Autism	22102821	CNVD
Prostate cancer	19363497	CNVD
Malaria	21533027	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Colorectal cancer	21518781	CNVD
Esophageal cancer	21518781	CNVD
Cancer	20164919	CNVD
Schizophrenia	20967226	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Gastric cancer	22315472	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60448400-60448600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:60448400-60448800	Enhancers	Pancreas	Pancrea
3	chr3:60449200-60449600	Enhancers	Fetal Intestine Large	intestine
4	chr3:60449200-60450000	Enhancers	Duodenum Mucosa	Duodenum
5	chr3:60449200-60450000	Enhancers	Fetal Intestine Small	intestine
6	chr3:60449200-60450000	Enhancers	Stomach Mucosa	stomach
7	chr3:60454600-60455400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr3:60454600-60455400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr3:60454800-60455400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr3:60455000-60455600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr3:60455400-60458600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr3:60455600-60458800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr3:60458600-60458800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr3:60458600-60459200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr3:60458800-60459200	Enhancers	Brain Germinal Matrix	brain
16	chr3:60458800-60459400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr3:60458800-60459400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr3:60459400-60461600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:60459400-60462000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr3:60460800-60462200	Enhancers	Fetal Heart	heart
21	chr3:60461200-60461600	Enhancers	Left Ventricle	heart
22	chr3:60461200-60461600	Enhancers	Right Atrium	heart
23	chr3:60461600-60462000	Weak transcription	Left Ventricle	heart
24	chr3:60462000-60462400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr3:60462000-60462600	Enhancers	Left Ventricle	heart
26	chr3:60462200-60464200	Weak transcription	Fetal Heart	heart
27	chr3:60463800-60464200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr3:60464200-60464600	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr3:60464200-60464600	Enhancers	Fetal Heart	heart
30	chr3:60464400-60466400	Weak transcription	Ovary	ovary
31	chr3:60472200-60472400	Enhancers	Fetal Intestine Large	intestine
32	chr3:60472200-60472800	Enhancers	Fetal Intestine Small	intestine
33	chr3:60472400-60473200	Weak transcription	Fetal Intestine Large	intestine
34	chr3:60472800-60473800	Weak transcription	Fetal Intestine Small	intestine
35	chr3:60473200-60473800	Enhancers	Duodenum Mucosa	Duodenum
36	chr3:60473200-60474400	Enhancers	Fetal Intestine Large	intestine
37	chr3:60473400-60473800	Enhancers	Fetal Heart	heart
38	chr3:60473800-60474200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:60473800-60474400	Enhancers	Gastric	stomach
40	chr3:60474000-60474200	Enhancers	Fetal Intestine Small	intestine
41	chr3:60483200-60484000	Enhancers	Brain Germinal Matrix	brain
42	chr3:60483400-60483800	Enhancers	Fetal Lung	lung
43	chr3:60483400-60485000	Enhancers	Fetal Heart	heart
44	chr3:60483600-60484000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr3:60483600-60484000	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr3:60483600-60484000	Enhancers	Fetal Brain Female	brain
47	chr3:60490200-60491000	Enhancers	Primary B cells from peripheral blood	blood
48	chr3:60499600-60500200	ZNF genes & repeats	Adipose Nuclei	Adipose
49	chr3:60499800-60500200	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr3:60499800-60501000	Enhancers	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links