Variant report

Variant	nsv1001862
Chromosome Location	chr3:89103872-89138257
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 568 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:568 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9849235	chr3:89103872-89103873	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149851533	chr3:89103874-89103875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370687412	chr3:89103953-89103954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370712583	chr3:89103991-89103992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539208098	chr3:89103998-89103999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573571660	chr3:89104061-89104062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9812073	chr3:89104099-89104100	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs555986592	chr3:89104105-89104106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185663532	chr3:89104127-89104128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554982035	chr3:89104132-89104133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9849748	chr3:89104197-89104198	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs116234974	chr3:89104219-89104220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9812386	chr3:89104252-89104253	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs577655798	chr3:89104291-89104292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190191252	chr3:89104299-89104300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564646878	chr3:89104301-89104302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560461402	chr3:89104334-89104335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532077981	chr3:89104343-89104344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550462253	chr3:89104355-89104356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11915864	chr3:89104435-89104436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368802821	chr3:89104560-89104561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529226646	chr3:89104570-89104571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552727369	chr3:89104625-89104626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572812356	chr3:89104635-89104636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547880182	chr3:89104671-89104672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527609807	chr3:89104690-89104691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs56851565	chr3:89104691-89104692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs397972501	chr3:89104699-89104700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1390698	chr3:89104702-89104703	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs539543639	chr3:89104732-89104733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551191322	chr3:89104784-89104785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372733163	chr3:89104786-89104787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182422272	chr3:89104877-89104878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1546171	chr3:89104879-89104880	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs184224937	chr3:89104894-89104895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567260106	chr3:89104900-89104901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189031691	chr3:89104951-89104952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1546172	chr3:89104980-89104981	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs114912677	chr3:89104995-89104996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115717552	chr3:89104996-89104997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545108248	chr3:89105011-89105012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558398879	chr3:89105062-89105063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371672967	chr3:89105071-89105072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576682293	chr3:89105074-89105075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544131205	chr3:89105087-89105088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562204297	chr3:89105202-89105203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529582665	chr3:89105211-89105212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550203544	chr3:89105212-89105213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541115605	chr3:89105223-89105224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181127243	chr3:89105232-89105233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
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
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
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Non-small cell lung cancer	21829676	CNVD
Lung cancer	19547694	CNVD
Cancer	20164919	CNVD
Acute myeloid leukemia	19651600	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:89102800-89108200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr3:89104800-89105200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:89105400-89106400	Enhancers	Stomach Mucosa	stomach
4	chr3:89107400-89107800	Enhancers	Osteobl	bone
5	chr3:89107800-89108200	Weak transcription	Osteobl	bone
6	chr3:89107800-89109800	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr3:89108200-89109000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:89108200-89109000	Enhancers	Osteobl	bone
9	chr3:89108200-89109200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:89108400-89108600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:89108400-89108800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr3:89108400-89108800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:89108400-89108800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr3:89108400-89108800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr3:89108400-89109000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:89108400-89109000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:89108400-89109000	Enhancers	HMEC	breast
18	chr3:89108600-89109000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:89108800-89109200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr3:89109000-89109200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:89109000-89109400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr3:89109000-89110000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr3:89109400-89110200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr3:89110000-89110200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr3:89111200-89111600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr3:89113000-89113400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:89113400-89116600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr3:89116600-89117400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr3:89121400-89122000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:89121600-89122200	Enhancers	Fetal Brain Female	brain
31	chr3:89121800-89122200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:89121800-89122200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr3:89121800-89122200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr3:89122000-89123200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr3:89123200-89123400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:89136400-89136800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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