Variant report

Variant	nsv876588
Chromosome Location	chr3:17214070-17314872
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:44)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:17300011..17301671-chr3:17454009..17455084,9	MCF-7	breast:
2	chr3:17300330..17301004-chr3:17455425..17455933,2	K562	blood:
3	chr3:17264042..17266078-chr3:17273400..17276341,2	MCF-7	breast:
4	chr3:17268787..17270436-chr3:17272719..17274874,2	MCF-7	breast:
5	chr3:17223218..17225620-chr3:17228660..17232430,3	K562	blood:
6	chr3:17209153..17211892-chr3:17230634..17232941,2	K562	blood:
7	chr3:17299444..17301149-chr3:17449495..17452150,2	K562	blood:
8	chr3:16870135..16870969-chr3:17274791..17275635,3	MCF-7	breast:
9	chr3:17264504..17266051-chr3:17266193..17267741,2	K562	blood:
10	chr3:17241712..17244929-chr3:17245188..17248642,3	K562	blood:
11	chr3:16869955..16870897-chr3:17274190..17275471,6	K562	blood:
12	chr3:16706868..16708588-chr3:17272260..17274832,2	MCF-7	breast:
13	chr3:17276830..17278604-chr3:17280473..17282499,2	K562	blood:
14	chr3:17299624..17302842-chr3:17453304..17456180,3	MCF-7	breast:
15	chr3:17246621..17248471-chr3:17249598..17251335,3	K562	blood:
16	chr3:17264504..17266051-chr3:17266193..17267741,2	K562	blood:
17	chr3:17276645..17279210-chr3:17280241..17281995,2	MCF-7	breast:
18	chr3:17222423..17225237-chr3:17227826..17231220,3	K562	blood:
19	chr3:16642232..16643440-chr3:17274140..17275500,10	K562	blood:
20	chr3:17222459..17225079-chr3:17234637..17237186,2	MCF-7	breast:
21	chr3:17223218..17225620-chr3:17228660..17232430,3	K562	blood:
22	chr3:17268787..17270436-chr3:17272719..17274874,2	MCF-7	breast:
23	chr3:17222423..17225237-chr3:17227826..17231220,3	K562	blood:
24	chr3:17264042..17266078-chr3:17273400..17276341,2	MCF-7	breast:
25	chr3:17300074..17301498-chr3:17454119..17455081,6	K562	blood:
26	chr3:17269481..17272255-chr3:17272749..17276126,3	K562	blood:
27	chr3:16642139..16643431-chr3:17274538..17275504,8	MCF-7	breast:
28	chr3:16642357..16644115-chr3:17274077..17275291,8	MCF-7	breast:
29	chr3:17259451..17261562-chr3:17263873..17266542,2	MCF-7	breast:
30	chr3:17300133..17300831-chr3:17882016..17882990,2	MCF-7	breast:
31	chr3:17237100..17237983-chr3:17274337..17275064,3	MCF-7	breast:
32	chr3:17277678..17280400-chr3:17284466..17286298,2	MCF-7	breast:
33	chr3:17241712..17244929-chr3:17245188..17248642,3	K562	blood:
34	chr3:17237100..17237983-chr3:17274337..17275064,3	MCF-7	breast:
35	chr3:17246621..17248471-chr3:17249598..17251335,3	K562	blood:
36	chr3:17277678..17280400-chr3:17284466..17286298,2	MCF-7	breast:
37	chr3:17222459..17225079-chr3:17234637..17237186,2	MCF-7	breast:
38	chr3:17276830..17278604-chr3:17280473..17282499,2	K562	blood:
39	chr3:17234686..17237852-chr3:17239726..17243177,3	MCF-7	breast:
40	chr3:17276645..17279210-chr3:17280241..17281995,2	MCF-7	breast:
41	chr3:17259451..17261562-chr3:17263873..17266542,2	MCF-7	breast:
42	chr3:17234686..17237852-chr3:17239726..17243177,3	MCF-7	breast:
43	chr3:17207202..17210072-chr3:17213126..17214686,2	MCF-7	breast:
44	chr3:17269481..17272255-chr3:17272749..17276126,3	K562	blood:

No data

Extended variants
information (count: 3472 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:3472 , 50 per page) page: 1 2 3 4 5 6 7 ... 70

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2470584	chr3:17214070-17214071	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs538794601	chr3:17214110-17214111	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566044439	chr3:17214120-17214121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185005701	chr3:17214124-17214125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558467901	chr3:17214125-17214126	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141867268	chr3:17214130-17214131	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550402124	chr3:17214143-17214144	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537643122	chr3:17214191-17214192	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115840550	chr3:17214214-17214215	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6764587	chr3:17214215-17214216	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573686155	chr3:17214218-17214219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554071400	chr3:17214281-17214282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116252783	chr3:17214290-17214291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189514883	chr3:17214294-17214295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572480986	chr3:17214328-17214329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544946978	chr3:17214341-17214342	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564344862	chr3:17214396-17214397	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181043928	chr3:17214401-17214402	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185059599	chr3:17214405-17214406	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146098150	chr3:17214460-17214461	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529403275	chr3:17214503-17214504	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549194104	chr3:17214536-17214537	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138792886	chr3:17214548-17214549	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116582053	chr3:17214559-17214560	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370124926	chr3:17214568-17214569	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571981543	chr3:17214569-17214570	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537302064	chr3:17214576-17214577	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141985078	chr3:17214608-17214609	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146265504	chr3:17214706-17214707	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546517125	chr3:17214707-17214708	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190895459	chr3:17214783-17214784	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs57200512	chr3:17214801-17214802	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181740089	chr3:17214818-17214819	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185927545	chr3:17214826-17214827	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558082753	chr3:17214953-17214954	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575515774	chr3:17214970-17214971	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139224410	chr3:17214974-17214975	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554404651	chr3:17215028-17215029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75402134	chr3:17215150-17215151	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554636290	chr3:17215169-17215170	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574492245	chr3:17215196-17215197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569107916	chr3:17215265-17215266	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543191777	chr3:17215270-17215271	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190386585	chr3:17215272-17215273	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528555906	chr3:17215306-17215307	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149960312	chr3:17215307-17215308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35456618	chr3:17215385-17215386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565108657	chr3:17215421-17215422	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs564961341	chr3:17215423-17215424	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs143991353	chr3:17215436-17215437	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:1342 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:17191400-17217600	Weak transcription	Small Intestine	intestine
2	chr3:17195000-17224200	Weak transcription	Fetal Kidney	kidney
3	chr3:17195200-17223000	Weak transcription	Fetal Brain Female	brain
4	chr3:17195800-17219000	Strong transcription	Primary B cells from peripheral blood	blood
5	chr3:17198400-17225200	Weak transcription	HMEC	breast
6	chr3:17200200-17216800	Weak transcription	HSMMtube	muscle
7	chr3:17200400-17216400	Weak transcription	NHDF-Ad	bronchial
8	chr3:17200400-17216600	Weak transcription	NH-A	brain
9	chr3:17200800-17225600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr3:17201000-17216400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr3:17201000-17220400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr3:17201200-17236200	Weak transcription	Fetal Brain Male	brain
13	chr3:17202400-17216400	Weak transcription	HSMM	muscle
14	chr3:17202400-17217200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:17202800-17217400	Weak transcription	HUVEC	blood vessel
16	chr3:17203200-17216600	Weak transcription	Colon Smooth Muscle	Colon
17	chr3:17203200-17224400	Weak transcription	A549	lung
18	chr3:17203800-17217200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr3:17203800-17244200	Weak transcription	Colonic Mucosa	Colon
20	chr3:17204200-17216600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr3:17204400-17216600	Weak transcription	Right Atrium	heart
22	chr3:17204400-17221200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr3:17206800-17216400	Weak transcription	Fetal Heart	heart
24	chr3:17208000-17223600	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr3:17208200-17216600	Weak transcription	NHLF	lung
26	chr3:17208200-17217200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr3:17208200-17244000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr3:17208400-17214400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr3:17208400-17214400	Weak transcription	Psoas Muscle	Psoas
30	chr3:17208400-17215800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr3:17208400-17216600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr3:17208400-17216600	Weak transcription	Osteobl	bone
33	chr3:17208400-17217200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr3:17208400-17221000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr3:17208400-17221000	Weak transcription	Brain Anterior Caudate	brain
36	chr3:17208400-17223600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr3:17208400-17224400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr3:17208400-17228600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr3:17208400-17243800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr3:17208400-17244000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr3:17208600-17221000	Weak transcription	Fetal Thymus	thymus
42	chr3:17208600-17224600	Weak transcription	HepG2	liver
43	chr3:17208800-17234400	Weak transcription	Brain Angular Gyrus	brain
44	chr3:17209000-17215600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr3:17209000-17216400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr3:17209000-17216800	Weak transcription	NHEK	skin
47	chr3:17209000-17221000	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr3:17209000-17221000	Weak transcription	GM12878-XiMat	blood
49	chr3:17209000-17234000	Weak transcription	Brain Substantia Nigra	brain
50	chr3:17209200-17216800	Weak transcription	Rectal Smooth Muscle	rectum

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