Variant report

Variant	nsv591344
Chromosome Location	chr3:115672480-115704434
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:115704364..115706313-chr3:115711389..115713489,2	K562	blood:
2	chr3:115637962..115639771-chr3:115691041..115693586,2	K562	blood:
3	chr3:115682591..115685297-chr3:115697294..115699959,2	K562	blood:
4	chr3:115675039..115678352-chr3:115682310..115684840,3	K562	blood:
5	chr3:115675039..115678352-chr3:115682310..115684840,3	K562	blood:
6	chr3:115683058..115685167-chr3:115688212..115689809,2	K562	blood:
7	chr3:115682591..115685297-chr3:115697294..115699959,2	K562	blood:
8	chr3:115683058..115685167-chr3:115688212..115689809,2	K562	blood:

No data

Extended variants
information (count: 1062 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1062 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6438293	chr3:115672480-115672481	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs6438294	chr3:115672551-115672552	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs191559634	chr3:115672592-115672593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6769601	chr3:115672610-115672611	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs148208250	chr3:115672611-115672612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562396548	chr3:115672783-115672784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141534172	chr3:115672797-115672798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183009121	chr3:115672839-115672840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537870571	chr3:115672874-115672875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560209812	chr3:115672916-115672917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186180252	chr3:115672920-115672921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112609206	chr3:115672943-115672944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564817687	chr3:115672944-115672945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76720177	chr3:115672961-115672962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190987716	chr3:115672963-115672964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568428512	chr3:115673057-115673058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372952236	chr3:115673080-115673081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182103102	chr3:115673086-115673087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187627884	chr3:115673117-115673118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547514824	chr3:115673178-115673179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565723220	chr3:115673235-115673236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539487239	chr3:115673253-115673254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558425264	chr3:115673261-115673262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577069766	chr3:115673266-115673267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs76660410	chr3:115673344-115673345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556337174	chr3:115673376-115673377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570868694	chr3:115673391-115673392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192822272	chr3:115673413-115673414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565552205	chr3:115673414-115673415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182989174	chr3:115673426-115673427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560321361	chr3:115673428-115673429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572069439	chr3:115673431-115673432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545819534	chr3:115673477-115673478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75529120	chr3:115673494-115673495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188432846	chr3:115673526-115673527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556218638	chr3:115673542-115673543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550079114	chr3:115673584-115673585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562287077	chr3:115673657-115673658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529481558	chr3:115673724-115673725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138496404	chr3:115673730-115673731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565880913	chr3:115673757-115673758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377244905	chr3:115673793-115673794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376336345	chr3:115673806-115673807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs56322133	chr3:115673807-115673808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374938969	chr3:115673812-115673813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112156148	chr3:115673813-115673814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146076361	chr3:115673902-115673903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538161233	chr3:115673906-115673907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556210947	chr3:115673916-115673917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112358995	chr3:115674004-115674005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Attention deficit hyperactivity disorder	22180640	CNVD
Ovarian cancer	22174824	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Characteristic facial feature	22180640	CNVD
hypoplastic male genitals	22180640	CNVD
postnatal overgrowth	22180640	CNVD
Schizophrenia	23813976	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:115650400-115686600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:115673000-115673400	Enhancers	Brain Anterior Caudate	brain
3	chr3:115673000-115673400	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr3:115673000-115673400	Enhancers	Brain Substantia Nigra	brain
5	chr3:115673200-115673400	Enhancers	Brain Hippocampus Middle	brain
6	chr3:115673400-115676000	Weak transcription	Brain Substantia Nigra	brain
7	chr3:115673600-115679000	Weak transcription	Brain Hippocampus Middle	brain
8	chr3:115676000-115676600	Enhancers	Brain Substantia Nigra	brain
9	chr3:115676600-115680200	Enhancers	Fetal Brain Male	brain
10	chr3:115676600-115680400	Weak transcription	Brain Substantia Nigra	brain
11	chr3:115676800-115677800	Enhancers	Fetal Brain Female	brain
12	chr3:115677800-115679800	Weak transcription	Fetal Brain Female	brain
13	chr3:115678200-115685000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr3:115679000-115679400	Enhancers	Brain Hippocampus Middle	brain
15	chr3:115679000-115679800	Enhancers	Brain Angular Gyrus	brain
16	chr3:115679000-115681000	Enhancers	Brain Cingulate Gyrus	brain
17	chr3:115679200-115679400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:115679200-115679800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:115679200-115680600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr3:115679200-115680800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr3:115679400-115679600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:115679400-115679600	Weak transcription	Brain Hippocampus Middle	brain
23	chr3:115679400-115680200	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr3:115679400-115680200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr3:115679400-115680200	Enhancers	Fetal Kidney	kidney
26	chr3:115679400-115680400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:115679400-115680800	Enhancers	NHDF-Ad	bronchial
28	chr3:115679600-115680000	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr3:115679600-115680400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:115679600-115680600	Enhancers	Brain Hippocampus Middle	brain
31	chr3:115679800-115680200	Enhancers	GM12878-XiMat	blood
32	chr3:115679800-115680400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr3:115679800-115680400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr3:115679800-115680600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr3:115679800-115680600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr3:115679800-115681000	Enhancers	Adipose Nuclei	Adipose
37	chr3:115679800-115681000	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr3:115679800-115681000	Enhancers	Fetal Brain Female	brain
39	chr3:115679800-115681200	Enhancers	Brain Anterior Caudate	brain
40	chr3:115680000-115680800	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr3:115680200-115680600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr3:115680200-115680600	Weak transcription	Fetal Brain Male	brain
43	chr3:115680200-115681200	Weak transcription	Fetal Kidney	kidney
44	chr3:115680200-115694600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr3:115680400-115680600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr3:115680400-115680600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr3:115680400-115681000	Enhancers	Brain Substantia Nigra	brain
48	chr3:115680400-115681200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr3:115680400-115681800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr3:115680600-115680800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links