Variant report

Variant	nsv965358
Chromosome Location	chr3:94007600-94013779
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 215 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:215 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186285894	chr3:94007627-94007628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552947404	chr3:94007641-94007642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144919579	chr3:94007653-94007654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538923111	chr3:94007663-94007664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575307520	chr3:94007681-94007682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190713154	chr3:94007714-94007715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575908435	chr3:94007806-94007807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544437078	chr3:94007829-94007830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76095227	chr3:94007881-94007882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182901041	chr3:94007886-94007887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs61450535	chr3:94007890-94007891	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs79053439	chr3:94007903-94007904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373306222	chr3:94007986-94007987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559376880	chr3:94007994-94007995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528124093	chr3:94008017-94008018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7633025	chr3:94008025-94008026	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs564998961	chr3:94008028-94008029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528812909	chr3:94008064-94008065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1584928	chr3:94008159-94008160	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs370892794	chr3:94008226-94008227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188110365	chr3:94008253-94008254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10641548	chr3:94008256-94008257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371937925	chr3:94008257-94008258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10681767	chr3:94008260-94008261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs386397311	chr3:94008264-94008265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531509505	chr3:94008267-94008268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs5850934	chr3:94008270-94008271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199582090	chr3:94008271-94008272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530117134	chr3:94008272-94008273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77193910	chr3:94008275-94008276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546715487	chr3:94008300-94008301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539855527	chr3:94008312-94008313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1584927	chr3:94008354-94008355	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs375238792	chr3:94008486-94008487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538613841	chr3:94008522-94008523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377695313	chr3:94008599-94008600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1598231	chr3:94008709-94008710	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs569401419	chr3:94008784-94008785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538574595	chr3:94008795-94008796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1598230	chr3:94008845-94008846	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs575121496	chr3:94008862-94008863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1598229	chr3:94008890-94008891	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs375798591	chr3:94008941-94008942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553079127	chr3:94008953-94008954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7627475	chr3:94008962-94008963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572992599	chr3:94008971-94008972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544637743	chr3:94008974-94008975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141583344	chr3:94008976-94008977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1609721	chr3:94009049-94009050	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs368106860	chr3:94009071-94009072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
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
Oral cancer	21386901	CNVD
Renal cell carcinoma	21668985	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
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	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
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:93996600-94009200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:94009000-94010400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr3:94009200-94009800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:94009400-94010000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr3:94009400-94010200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr3:94009400-94010400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr3:94009600-94010200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr3:94009800-94011600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:94010200-94011000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:94010200-94011600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:94010600-94013000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:94011000-94012200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:94011600-94012000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:94011600-94012600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr3:94012000-94013600	Enhancers	Fetal Intestine Large	intestine
16	chr3:94012000-94013600	Enhancers	HMEC	breast
17	chr3:94012000-94014400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:94012200-94014000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:94012200-94014200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr3:94012400-94012600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr3:94012400-94013200	Enhancers	NHEK	skin
22	chr3:94012400-94013400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:94012600-94013600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:94012600-94013600	Enhancers	Osteobl	bone
25	chr3:94012800-94013200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr3:94012800-94013200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr3:94012800-94013600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:94013000-94013200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:94013200-94014000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr3:94013200-94014200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:94013400-94014600	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr3:94013600-94017200	Weak transcription	Fetal Intestine Large	intestine

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