Variant report

Variant	nsv963480
Chromosome Location	chr3:17031904-17038082
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:16938783..16939655-chr3:17036222..17037147,3	MCF-7	breast:
2	chr3:17028484..17030023-chr3:17033756..17036202,2	K562	blood:
3	chr3:17029033..17031538-chr3:17037061..17039270,2	MCF-7	breast:
4	chr3:17035509..17037712-chr3:17038377..17040879,2	K562	blood:

Extended variants
information (count: 218 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:218 , 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	rs138864022	chr3:17031955-17031956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs62246039	chr3:17031984-17031985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77585805	chr3:17032026-17032027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143523778	chr3:17032082-17032083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs60098908	chr3:17032101-17032102	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs542922607	chr3:17032121-17032122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563173695	chr3:17032131-17032132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376574846	chr3:17032153-17032154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs180752309	chr3:17032177-17032178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79345159	chr3:17032281-17032282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551370083	chr3:17032323-17032324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568297915	chr3:17032398-17032399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530677550	chr3:17032414-17032415	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544193525	chr3:17032422-17032423	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538498329	chr3:17032431-17032432	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550307685	chr3:17032472-17032473	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564173314	chr3:17032500-17032501	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535501887	chr3:17032511-17032512	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555757639	chr3:17032525-17032526	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533019432	chr3:17032537-17032538	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556612905	chr3:17032550-17032551	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565917286	chr3:17032559-17032560	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535366801	chr3:17032560-17032561	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558631709	chr3:17032569-17032570	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574954376	chr3:17032597-17032598	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577821909	chr3:17032633-17032634	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186479771	chr3:17032684-17032685	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189607839	chr3:17032696-17032697	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116185320	chr3:17032710-17032711	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573374896	chr3:17032718-17032719	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181867238	chr3:17032756-17032757	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559335456	chr3:17032763-17032764	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528065009	chr3:17032765-17032766	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186284580	chr3:17032815-17032816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149384574	chr3:17032842-17032843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530740272	chr3:17032843-17032844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550766353	chr3:17033050-17033051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567445008	chr3:17033212-17033213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs115788687	chr3:17033260-17033261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs73153213	chr3:17033390-17033391	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs377383363	chr3:17033444-17033445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566109407	chr3:17033451-17033452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534667702	chr3:17033565-17033566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551669406	chr3:17033579-17033580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571576403	chr3:17033621-17033622	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs117383514	chr3:17033673-17033674	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191812793	chr3:17033688-17033689	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549045248	chr3:17033706-17033707	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557162481	chr3:17033711-17033712	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183044779	chr3:17033712-17033713	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:211 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:17014800-17033600	Weak transcription	Primary T cells from cord blood	blood
2	chr3:17014800-17038800	Weak transcription	Primary B cells from cord blood	blood
3	chr3:17016400-17032200	Weak transcription	Primary B cells from peripheral blood	blood
4	chr3:17020400-17034000	Weak transcription	Small Intestine	intestine
5	chr3:17024200-17034200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr3:17024800-17033400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:17025400-17033800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:17026800-17041200	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr3:17027200-17033800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr3:17027200-17033800	Weak transcription	Fetal Heart	heart
11	chr3:17027200-17035400	Weak transcription	Fetal Brain Female	brain
12	chr3:17027400-17032800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr3:17027600-17032400	Weak transcription	Right Ventricle	heart
14	chr3:17027600-17033800	Weak transcription	Gastric	stomach
15	chr3:17027600-17034000	Weak transcription	Right Atrium	heart
16	chr3:17027800-17034400	Weak transcription	Ovary	ovary
17	chr3:17028400-17039600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr3:17029000-17032400	Weak transcription	Left Ventricle	heart
19	chr3:17029000-17033800	Weak transcription	Spleen	Spleen
20	chr3:17029000-17034000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr3:17029000-17034400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr3:17029200-17034400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr3:17029400-17034200	Weak transcription	Liver	Liver
24	chr3:17029400-17042200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr3:17030000-17032600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr3:17030000-17036200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr3:17030200-17035800	Weak transcription	Brain Anterior Caudate	brain
28	chr3:17030200-17039200	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr3:17030600-17034600	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr3:17031200-17038200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr3:17031400-17032000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr3:17031600-17032200	Enhancers	Brain Substantia Nigra	brain
33	chr3:17031600-17035000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr3:17031800-17032800	Enhancers	Psoas Muscle	Psoas
35	chr3:17031800-17033000	Enhancers	Pancreas	Pancrea
36	chr3:17031800-17035000	Enhancers	Primary T cells fromperipheralblood	blood
37	chr3:17031800-17041200	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr3:17032000-17032800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr3:17032000-17033600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr3:17032200-17033000	Enhancers	Primary B cells from peripheral blood	blood
41	chr3:17032400-17032600	Enhancers	H9 Cell Line	embryonic stem cell
42	chr3:17032400-17032600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr3:17032400-17032600	Enhancers	Lung	lung
44	chr3:17032400-17032800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
45	chr3:17032400-17032800	Enhancers	Left Ventricle	heart
46	chr3:17032400-17032800	Enhancers	Right Ventricle	heart
47	chr3:17032600-17032800	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr3:17032600-17033400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr3:17032600-17033800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr3:17032600-17036400	Weak transcription	Fetal Intestine Small	intestine

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