Variant report

Variant	nsv3715
Chromosome Location	chr3:17514325-17578178
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:21)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:17518313..17520629-chr3:17521648..17524012,2	MCF-7	breast:
2	chr3:17561404..17563252-chr3:17564613..17567165,2	K562	blood:
3	chr3:17568665..17570764-chr3:17576211..17578088,2	K562	blood:
4	chr3:17563803..17565634-chr3:17567663..17570561,2	K562	blood:
5	chr3:17514624..17515516-chr3:17727784..17728694,2	MCF-7	breast:
6	chr3:17520321..17522399-chr3:17522640..17525341,2	K562	blood:
7	chr3:17518313..17520629-chr3:17521648..17524012,2	MCF-7	breast:
8	chr3:17561404..17563252-chr3:17564613..17567165,2	K562	blood:
9	chr3:17552302..17553888-chr3:17553996..17555842,2	K562	blood:
10	chr3:17574853..17577476-chr3:17578727..17581379,2	K562	blood:
11	chr3:17568665..17570764-chr3:17576211..17578088,2	K562	blood:
12	chr3:17555908..17557459-chr3:17626910..17628494,2	K562	blood:
13	chr3:17563803..17565634-chr3:17567663..17570561,2	K562	blood:
14	chr3:17515055..17515929-chr3:17882561..17883391,3	MCF-7	breast:
15	chr3:17515336..17515883-chr3:17728199..17729050,2	MCF-7	breast:
16	chr3:17559404..17562801-chr3:17567109..17569142,3	K562	blood:
17	chr3:17552302..17553888-chr3:17553996..17555842,2	K562	blood:
18	chr3:17568233..17570772-chr3:17578464..17581290,2	K562	blood:
19	chr3:17520321..17522399-chr3:17522640..17525341,2	K562	blood:
20	chr3:17559404..17562801-chr3:17567109..17569142,3	K562	blood:
21	chr3:17507187..17509434-chr3:17516355..17517975,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SATB1-7	chr3:17567733-17568134	uc_483_-
2	lnc-SATB1-8	chr3:17550041-17550097	NONHSAT088551
3	lnc-PLCL2-9	chr3:17567733-17568134	uc_483_+

No data

Extended variants
information (count: 2334 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:2334 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550783383	chr3:17514368-17514369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561464540	chr3:17514372-17514373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112345074	chr3:17514407-17514408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530243483	chr3:17514419-17514420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143448225	chr3:17514484-17514485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181825277	chr3:17514492-17514493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571632029	chr3:17514536-17514537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114849030	chr3:17514581-17514582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557295994	chr3:17514616-17514617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537382482	chr3:17514617-17514618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537880594	chr3:17514618-17514619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557631917	chr3:17514663-17514664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186132221	chr3:17514720-17514721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574166343	chr3:17514741-17514742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9877883	chr3:17514794-17514795	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs139002311	chr3:17514820-17514821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142264200	chr3:17514851-17514852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545373331	chr3:17514861-17514862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371988386	chr3:17514866-17514867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536541019	chr3:17514877-17514878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565608230	chr3:17514892-17514893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575528922	chr3:17514910-17514911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544566635	chr3:17514952-17514953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35917111	chr3:17514993-17514994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145770523	chr3:17515004-17515005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114761314	chr3:17515009-17515010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547121860	chr3:17515034-17515035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560388483	chr3:17515049-17515050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538234610	chr3:17515071-17515072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532389642	chr3:17515087-17515088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558099203	chr3:17515090-17515091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368527852	chr3:17515138-17515139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs371817881	chr3:17515139-17515140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569158477	chr3:17515152-17515153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537769332	chr3:17515166-17515167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138448198	chr3:17515171-17515172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567727005	chr3:17515190-17515191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533594529	chr3:17515255-17515256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs141891788	chr3:17515303-17515304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs117172415	chr3:17515352-17515353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539250576	chr3:17515362-17515363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs60817133	chr3:17515381-17515382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs397722806	chr3:17515392-17515393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs150629430	chr3:17515473-17515474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573241339	chr3:17515515-17515516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376751093	chr3:17515578-17515579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs371765468	chr3:17515664-17515665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544590647	chr3:17515691-17515692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554959093	chr3:17515693-17515694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574934968	chr3:17515756-17515757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:615 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:17462400-17521400	Weak transcription	Pancreas	Pancrea
2	chr3:17472400-17522000	Weak transcription	Fetal Lung	lung
3	chr3:17476200-17530200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr3:17477600-17521600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr3:17480400-17521200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr3:17491600-17521200	Weak transcription	Fetal Stomach	stomach
7	chr3:17495400-17521800	Weak transcription	Ovary	ovary
8	chr3:17497600-17522000	Weak transcription	Dnd41	blood
9	chr3:17498400-17521800	Weak transcription	GM12878-XiMat	blood
10	chr3:17498800-17522600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr3:17499800-17521800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr3:17501000-17521800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr3:17502000-17521400	Weak transcription	Fetal Intestine Small	intestine
14	chr3:17505000-17521200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr3:17506800-17522200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr3:17507200-17521600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr3:17507800-17522000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr3:17508200-17521400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr3:17511400-17523800	Weak transcription	Brain Anterior Caudate	brain
20	chr3:17511600-17522200	Weak transcription	Fetal Kidney	kidney
21	chr3:17511800-17515400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr3:17511800-17515800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr3:17512000-17521400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr3:17512000-17522600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr3:17512000-17538000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr3:17512400-17521800	Weak transcription	Primary B cells from cord blood	blood
27	chr3:17512800-17516200	Weak transcription	Colon Smooth Muscle	Colon
28	chr3:17515000-17517400	Enhancers	A549	lung
29	chr3:17515400-17515600	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr3:17515600-17516000	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr3:17515800-17516200	Enhancers	Rectal Smooth Muscle	rectum
32	chr3:17516000-17516200	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr3:17516200-17516400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr3:17516200-17516400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr3:17516200-17516600	Enhancers	Colon Smooth Muscle	Colon
36	chr3:17516400-17516600	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr3:17516400-17516600	Enhancers	Rectal Smooth Muscle	rectum
38	chr3:17516600-17524800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr3:17516600-17537600	Weak transcription	Colon Smooth Muscle	Colon
40	chr3:17517000-17517400	Enhancers	Fetal Heart	heart
41	chr3:17517000-17517400	Enhancers	Right Ventricle	heart
42	chr3:17517400-17519200	Weak transcription	A549	lung
43	chr3:17517400-17522200	Weak transcription	Right Ventricle	heart
44	chr3:17517400-17522600	Weak transcription	Fetal Heart	heart
45	chr3:17518200-17521200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr3:17518200-17521400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr3:17518400-17521400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr3:17518800-17521200	Weak transcription	Spleen	Spleen
49	chr3:17519000-17521800	Weak transcription	Fetal Intestine Large	intestine
50	chr3:17519000-17522200	Weak transcription	Primary T cells from cord blood	blood

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