Variant report

Variant	nsv1007503
Chromosome Location	chr3:85558527-85617198
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	chr3:85571729..85574723-chr3:85578667..85580600,2	K562	blood:
2	chr3:85571729..85574723-chr3:85578667..85580600,2	K562	blood:
3	chr22:22050906..22053807-chr3:85561046..85562647,2	K562	blood:
4	chr3:85489023..85491028-chr3:85614972..85617090,2	K562	blood:
5	chr3:85569919..85571559-chr3:85571800..85574471,2	K562	blood:
6	chr3:85554458..85559025-chr3:85559659..85564098,6	K562	blood:
7	chr3:85561871..85565321-chr3:85567956..85571007,5	K562	blood:
8	chr3:85582405..85584379-chr3:85589105..85591498,2	K562	blood:
9	chr3:85561871..85565321-chr3:85567956..85571007,5	K562	blood:
10	chr3:85582405..85584379-chr3:85589105..85591498,2	K562	blood:
11	chr3:85569919..85571559-chr3:85571800..85574471,2	K562	blood:
12	chr3:85554458..85559025-chr3:85559659..85564098,6	K562	blood:
13	chr3:85550694..85553715-chr3:85562655..85565189,4	K562	blood:
14	chr3:85616525..85619382-chr3:85621735..85623491,2	K562	blood:

No data

Extended variants
information (count: 1363 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1363 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566287730	chr3:85558530-85558531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs68102233	chr3:85558538-85558539	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs77233083	chr3:85558561-85558562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574784606	chr3:85558600-85558601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576463492	chr3:85558601-85558602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187656026	chr3:85558614-85558615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113891402	chr3:85558616-85558617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141766788	chr3:85558647-85558648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541549383	chr3:85558652-85558653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560086194	chr3:85558659-85558660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527521444	chr3:85558660-85558661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563662024	chr3:85558744-85558745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150172141	chr3:85558757-85558758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75463854	chr3:85558780-85558781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531177894	chr3:85558819-85558820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549379113	chr3:85558845-85558846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79129705	chr3:85558869-85558870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192143079	chr3:85558880-85558881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73126399	chr3:85558902-85558903	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs560079531	chr3:85558918-85558919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1375559	chr3:85559006-85559007	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs114595561	chr3:85559038-85559039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551742476	chr3:85559102-85559103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562275861	chr3:85559144-85559145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570385804	chr3:85559145-85559146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537408843	chr3:85559208-85559209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184923242	chr3:85559245-85559246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531181742	chr3:85559255-85559256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568182119	chr3:85559350-85559351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7613660	chr3:85559358-85559359	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs553441396	chr3:85559367-85559368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35867602	chr3:85559372-85559373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12637977	chr3:85559382-85559383	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs545999716	chr3:85559397-85559398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564002555	chr3:85559419-85559420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575912967	chr3:85559425-85559426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187719413	chr3:85559430-85559431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561347180	chr3:85559445-85559446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528926325	chr3:85559454-85559455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201516086	chr3:85559463-85559464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78361891	chr3:85559476-85559477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12638004	chr3:85559478-85559479	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs200779010	chr3:85559550-85559551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559404011	chr3:85559609-85559610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567580261	chr3:85559615-85559616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533336916	chr3:85559647-85559648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551967454	chr3:85559683-85559684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs72909241	chr3:85559725-85559726	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs372552851	chr3:85559729-85559730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373139253	chr3:85559744-85559745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
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
Acute myeloid leukemia	20729466	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
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	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
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Prostate cancer	21307934	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85545000-85569000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr3:85558200-85566800	Weak transcription	K562	blood
3	chr3:85560400-85561000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:85561200-85561600	Enhancers	Placenta Amnion	Placenta Amnion
5	chr3:85569000-85569200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr3:85570800-85571200	Active TSS	A549	lung
7	chr3:85574000-85574800	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr3:85574000-85574800	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr3:85574800-85575400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr3:85574800-85576000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr3:85575400-85575600	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr3:85576200-85576400	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr3:85583000-85585400	Enhancers	Fetal Brain Male	brain
14	chr3:85583800-85585200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr3:85584200-85584800	Enhancers	Brain Anterior Caudate	brain
16	chr3:85584400-85585000	Enhancers	Brain Cingulate Gyrus	brain
17	chr3:85584400-85585200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr3:85584400-85585400	Enhancers	Brain Substantia Nigra	brain
19	chr3:85584600-85585000	Enhancers	Adipose Nuclei	Adipose
20	chr3:85584600-85585200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr3:85584600-85585200	Enhancers	Brain Angular Gyrus	brain
22	chr3:85584600-85585200	Enhancers	Brain Hippocampus Middle	brain
23	chr3:85584600-85585200	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr3:85584800-85585000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr3:85584800-85585000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr3:85584800-85585200	Enhancers	Brain Germinal Matrix	brain
27	chr3:85584800-85587400	Weak transcription	Brain Anterior Caudate	brain
28	chr3:85585000-85588000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr3:85585200-85587200	Weak transcription	Brain Angular Gyrus	brain
30	chr3:85585200-85587400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr3:85585200-85587600	Weak transcription	Brain Hippocampus Middle	brain
32	chr3:85585400-85591000	Weak transcription	Brain Substantia Nigra	brain
33	chr3:85587200-85588000	Enhancers	Brain Angular Gyrus	brain
34	chr3:85587400-85587800	Enhancers	Brain Anterior Caudate	brain
35	chr3:85587400-85588000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr3:85587400-85588000	Enhancers	Psoas Muscle	Psoas
37	chr3:85587400-85589800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr3:85587600-85588200	Enhancers	Brain Hippocampus Middle	brain
39	chr3:85588000-85588600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr3:85591000-85597600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr3:85609000-85609400	Enhancers	Muscle Satellite Cultured Cells	--
42	chr3:85609000-85610200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:85609000-85610400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr3:85609000-85610400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr3:85609200-85609800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr3:85609200-85609800	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr3:85609200-85610200	Enhancers	Liver	Liver
48	chr3:85609200-85610400	Enhancers	Brain Angular Gyrus	brain
49	chr3:85609200-85610600	Enhancers	HepG2	liver
50	chr3:85609200-85611000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links