Variant report

Variant	nsv963495
Chromosome Location	chr3:17323835-17328802
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:17322980..17323870-chr3:17472180..17472688,2	K562	blood:
2	chr3:17327752..17329716-chr3:17331813..17334242,2	K562	blood:
3	chr3:17327035..17329252-chr3:17332742..17334627,2	K562	blood:

Extended variants
information (count: 168 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:168 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2733514	chr3:17323931-17323932	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572609588	chr3:17323943-17323944	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34313497	chr3:17323962-17323963	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544741515	chr3:17324045-17324046	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564321841	chr3:17324067-17324068	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533601267	chr3:17324095-17324096	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550177664	chr3:17324096-17324097	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189546365	chr3:17324102-17324103	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369185014	chr3:17324110-17324111	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564024302	chr3:17324121-17324122	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529230411	chr3:17324159-17324160	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549362110	chr3:17324180-17324181	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566125963	chr3:17324202-17324203	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535114332	chr3:17324231-17324232	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373252563	chr3:17324242-17324243	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192812366	chr3:17324271-17324272	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112148466	chr3:17324299-17324300	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2069136	chr3:17324346-17324347	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs571447112	chr3:17324359-17324360	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183472949	chr3:17324404-17324405	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146709773	chr3:17324433-17324434	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573891076	chr3:17324437-17324438	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572834646	chr3:17324447-17324448	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535828561	chr3:17324491-17324492	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541699568	chr3:17324500-17324501	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570156265	chr3:17324526-17324527	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561805811	chr3:17324564-17324565	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552548507	chr3:17324573-17324574	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572537613	chr3:17324658-17324659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544679794	chr3:17324662-17324663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564658197	chr3:17324677-17324678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140293693	chr3:17324698-17324699	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189365783	chr3:17324703-17324704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs767685	chr3:17324733-17324734	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs529588414	chr3:17324734-17324735	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549737363	chr3:17324781-17324782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559768693	chr3:17324782-17324783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143420501	chr3:17324804-17324805	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551878578	chr3:17324813-17324814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181778116	chr3:17324850-17324851	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571729840	chr3:17324868-17324869	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536806708	chr3:17324902-17324903	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550755907	chr3:17324920-17324921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs17200767	chr3:17324933-17324934	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs114414082	chr3:17324941-17324942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552874060	chr3:17324948-17324949	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542036116	chr3:17324961-17324962	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369928153	chr3:17325073-17325074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538261177	chr3:17325074-17325075	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561825087	chr3:17325091-17325092	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:17250000-17330200	Weak transcription	Aorta	Aorta
2	chr3:17255200-17363800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:17273600-17330200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr3:17277600-17328600	Weak transcription	Primary T cells from cord blood	blood
5	chr3:17279400-17330200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr3:17279800-17329600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr3:17296600-17330200	Weak transcription	Left Ventricle	heart
8	chr3:17298800-17373000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr3:17301400-17335400	Weak transcription	Ovary	ovary
10	chr3:17311000-17330400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr3:17313800-17332200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr3:17315000-17332400	Weak transcription	GM12878-XiMat	blood
13	chr3:17315800-17330200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr3:17316200-17330200	Weak transcription	Fetal Intestine Large	intestine
15	chr3:17319600-17330200	Weak transcription	Dnd41	blood
16	chr3:17319600-17332400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:17319600-17332400	Weak transcription	Adipose Nuclei	Adipose
18	chr3:17319800-17328600	Weak transcription	HSMM	muscle
19	chr3:17319800-17328800	Weak transcription	HSMMtube	muscle
20	chr3:17319800-17330000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr3:17319800-17351200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr3:17320400-17328200	Weak transcription	Right Ventricle	heart
23	chr3:17320400-17330200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:17320400-17330400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr3:17320600-17330200	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr3:17320600-17330200	Weak transcription	Lung	lung
27	chr3:17320600-17330200	Weak transcription	Spleen	Spleen
28	chr3:17320600-17330400	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr3:17320800-17325400	Strong transcription	Primary B cells from cord blood	blood
30	chr3:17320800-17330400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr3:17320800-17332200	Weak transcription	Colonic Mucosa	Colon
32	chr3:17321200-17332200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr3:17321400-17329800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr3:17321400-17330200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr3:17321600-17332200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr3:17321600-17354200	Weak transcription	Placenta	Placenta
37	chr3:17321800-17330200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr3:17321800-17332000	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr3:17322000-17330400	Weak transcription	Esophagus	oesophagus
40	chr3:17322000-17330400	Weak transcription	Pancreas	Pancrea
41	chr3:17322200-17342800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr3:17322600-17330200	Weak transcription	Fetal Stomach	stomach
43	chr3:17322600-17330200	Weak transcription	Gastric	stomach
44	chr3:17323000-17334600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr3:17323200-17324600	Weak transcription	Primary B cells from peripheral blood	blood
46	chr3:17323200-17329800	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr3:17323200-17330200	Weak transcription	Fetal Intestine Small	intestine
48	chr3:17323600-17324600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr3:17323800-17330400	Weak transcription	Liver	Liver
50	chr3:17324600-17325200	Strong transcription	Primary B cells from peripheral blood	blood

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