Variant report

Variant	nsv508232
Chromosome Location	chr3:101004851-101028209
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:100997650..101000246-chr3:101010529..101013329,2	MCF-7	breast:
2	chr3:101020011..101022756-chr3:101027193..101029780,2	K562	blood:
3	chr3:101020011..101022756-chr3:101027193..101029780,2	K562	blood:

Extended variants
information (count: 770 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:770 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570631977	chr3:101004859-101004860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182815497	chr3:101004886-101004887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186779980	chr3:101004925-101004926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560155373	chr3:101004939-101004940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567739114	chr3:101005059-101005060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34309330	chr3:101005107-101005108	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs556788325	chr3:101005140-101005141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575337524	chr3:101005176-101005177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115796802	chr3:101005190-101005191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs513994	chr3:101005238-101005239	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs482436	chr3:101005268-101005269	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs531924641	chr3:101005297-101005298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191532249	chr3:101005336-101005337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562035720	chr3:101005352-101005353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183857133	chr3:101005359-101005360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79242736	chr3:101005360-101005361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187787092	chr3:101005440-101005441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533492649	chr3:101005483-101005484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552068940	chr3:101005496-101005497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs193100996	chr3:101005503-101005504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs485130	chr3:101005547-101005548	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs546492299	chr3:101005563-101005564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540991023	chr3:101005660-101005661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185119849	chr3:101005726-101005727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140621363	chr3:101005731-101005732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150080911	chr3:101005781-101005782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs367689359	chr3:101005805-101005806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539554373	chr3:101005838-101005839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545886585	chr3:101005856-101005857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372383015	chr3:101005864-101005865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567093082	chr3:101005891-101005892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534449652	chr3:101005953-101005954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556106679	chr3:101006045-101006046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138667486	chr3:101006085-101006086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544281151	chr3:101006086-101006087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190162506	chr3:101006121-101006122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs578006872	chr3:101006125-101006126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112677631	chr3:101006148-101006149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563890821	chr3:101006153-101006154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142730204	chr3:101006155-101006156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540076858	chr3:101006164-101006165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532437338	chr3:101006168-101006169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561644341	chr3:101006185-101006186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529215933	chr3:101006204-101006205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369605684	chr3:101006310-101006311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147376184	chr3:101006338-101006339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568850969	chr3:101006432-101006433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561103512	chr3:101006449-101006450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532840181	chr3:101006498-101006499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs515307	chr3:101006499-101006500	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:56)

Disease	PMID	Source
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
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
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
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21785460	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100958800-101012800	Weak transcription	Left Ventricle	heart
2	chr3:100989400-101018600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:100994800-101008800	Weak transcription	Primary T cells from cord blood	blood
4	chr3:100999000-101007200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:100999200-101014600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:101007200-101007400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr3:101008800-101009600	Strong transcription	Primary T cells from cord blood	blood
8	chr3:101009600-101011400	Weak transcription	Primary T cells from cord blood	blood
9	chr3:101009800-101011600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:101010600-101011400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:101010600-101011600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:101010800-101011400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr3:101010800-101011400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:101010800-101011400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:101010800-101011400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr3:101010800-101011400	Enhancers	NHEK	skin
17	chr3:101010800-101011600	Enhancers	NH-A	brain
18	chr3:101010800-101011600	Enhancers	Osteobl	bone
19	chr3:101011200-101011600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr3:101015200-101019000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr3:101017000-101017200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:101018400-101019000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:101018600-101019400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr3:101018800-101019000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr3:101018800-101019200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr3:101019000-101019200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr3:101019000-101019200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr3:101019000-101019400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:101019000-101019400	Weak transcription	Primary T cells from cord blood	blood
30	chr3:101019000-101019600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr3:101019000-101019600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr3:101019200-101019400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr3:101019200-101022200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr3:101019400-101019600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr3:101019400-101019600	ZNF genes & repeats	Fetal Stomach	stomach
36	chr3:101019400-101020400	Strong transcription	Primary T cells from cord blood	blood
37	chr3:101019400-101021200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr3:101019400-101026200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr3:101019600-101022600	Weak transcription	Fetal Stomach	stomach
40	chr3:101020400-101026800	Weak transcription	Primary T cells from cord blood	blood
41	chr3:101021600-101022200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr3:101021800-101022800	Enhancers	Muscle Satellite Cultured Cells	--
43	chr3:101022000-101022200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:101022000-101022200	Enhancers	NHEK	skin
45	chr3:101022000-101022200	Enhancers	NHLF	lung
46	chr3:101022200-101022400	Enhancers	NHDF-Ad	bronchial
47	chr3:101022200-101022600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr3:101022200-101022600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr3:101022200-101022600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr3:101022200-101022600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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