Variant report

Variant	nsv819815
Chromosome Location	chr3:17124088-17131754
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:17109611..17112093-chr3:17130778..17133549,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TBC1D5-2	chr3:17131743-17132014	NONHSAT088538

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	PLCL2	hsa-miR-181a-5p	chr3:17131537-17131558
2	PLCL2	hsa-miR-181a-5p	chr3:17131551-17131558

Extended variants
information (count: 287 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:287 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80236304	chr3:17124088-17124089	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75407301	chr3:17124089-17124090	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73029118	chr3:17124103-17124104	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs576909103	chr3:17124142-17124143	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545939725	chr3:17124156-17124157	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112422779	chr3:17124223-17124224	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139046275	chr3:17124246-17124247	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576309761	chr3:17124258-17124259	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542551872	chr3:17124283-17124284	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562368003	chr3:17124311-17124312	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531943928	chr3:17124326-17124327	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143994657	chr3:17124339-17124340	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs117337022	chr3:17124383-17124384	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs4618210	chr3:17124384-17124385	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
15	rs374510258	chr3:17124399-17124400	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533071848	chr3:17124410-17124411	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186968910	chr3:17124417-17124418	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563304278	chr3:17124449-17124450	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376698644	chr3:17124462-17124463	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548913371	chr3:17124532-17124533	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528020319	chr3:17124544-17124545	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548094988	chr3:17124573-17124574	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115339408	chr3:17124581-17124582	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573563836	chr3:17124610-17124611	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551174280	chr3:17124620-17124621	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573227286	chr3:17124634-17124635	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376310092	chr3:17124638-17124639	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs62247258	chr3:17124737-17124738	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs556374928	chr3:17124768-17124769	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576431868	chr3:17124786-17124787	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs146876303	chr3:17124789-17124790	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556132970	chr3:17124829-17124830	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555448673	chr3:17124843-17124844	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572793105	chr3:17124898-17124899	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541717379	chr3:17124959-17124960	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372512434	chr3:17124986-17124987	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114787361	chr3:17125070-17125071	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs368346114	chr3:17125090-17125091	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs199736014	chr3:17125138-17125139	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs145372774	chr3:17125155-17125156	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs73151391	chr3:17125165-17125166	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs528911799	chr3:17125191-17125192	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs548554249	chr3:17125204-17125205	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs191458130	chr3:17125211-17125212	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs528389622	chr3:17125223-17125224	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs149196768	chr3:17125229-17125230	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs143263912	chr3:17125239-17125240	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs536852928	chr3:17125260-17125261	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs183318790	chr3:17125264-17125265	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs535920932	chr3:17125386-17125387	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	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
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	21364760	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD

Chromatin state (count:267 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:17089400-17135000	Weak transcription	Pancreas	Pancrea
2	chr3:17103400-17134400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr3:17107000-17133400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:17107200-17126200	Weak transcription	Fetal Kidney	kidney
5	chr3:17110800-17132200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:17111400-17129400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:17111800-17130600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:17112000-17132000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr3:17112200-17137400	Weak transcription	Brain Germinal Matrix	brain
10	chr3:17112600-17124600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr3:17112600-17126000	Weak transcription	Fetal Brain Female	brain
12	chr3:17112600-17127800	Weak transcription	Fetal Lung	lung
13	chr3:17112600-17129600	Weak transcription	Brain Angular Gyrus	brain
14	chr3:17112600-17130200	Weak transcription	Brain Anterior Caudate	brain
15	chr3:17112600-17135800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr3:17112800-17131200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr3:17112800-17135200	Weak transcription	Fetal Brain Male	brain
18	chr3:17114400-17126800	Strong transcription	Primary B cells from cord blood	blood
19	chr3:17114400-17131600	Weak transcription	Colonic Mucosa	Colon
20	chr3:17116800-17126000	Weak transcription	Dnd41	blood
21	chr3:17116800-17130200	Weak transcription	Thymus	Thymus
22	chr3:17117400-17125000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr3:17117400-17127600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr3:17117800-17127600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr3:17117800-17128000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr3:17118400-17126800	Strong transcription	Primary B cells from peripheral blood	blood
27	chr3:17118600-17126800	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr3:17119200-17126800	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr3:17119600-17125600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr3:17119800-17124800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr3:17120000-17125800	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr3:17120400-17125200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr3:17120400-17133400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr3:17120400-17135000	Weak transcription	HUVEC	blood vessel
35	chr3:17121000-17124600	Weak transcription	Lung	lung
36	chr3:17121000-17129600	Weak transcription	Right Ventricle	heart
37	chr3:17121000-17134400	Weak transcription	Gastric	stomach
38	chr3:17121600-17124600	Weak transcription	Esophagus	oesophagus
39	chr3:17121600-17126600	Weak transcription	Fetal Intestine Small	intestine
40	chr3:17121600-17127800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr3:17121600-17132200	Weak transcription	Fetal Stomach	stomach
42	chr3:17121800-17129000	Weak transcription	Aorta	Aorta
43	chr3:17122200-17124600	Strong transcription	GM12878-XiMat	blood
44	chr3:17122200-17125000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr3:17122200-17126600	Strong transcription	Primary hematopoietic stem cells	blood
46	chr3:17122400-17124200	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr3:17122400-17126600	Strong transcription	Liver	Liver
48	chr3:17122800-17124400	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr3:17122800-17124600	Weak transcription	Primary T cells from cord blood	blood
50	chr3:17122800-17124600	Weak transcription	Primary T cells fromperipheralblood	blood

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