Variant report

Variant	nsv1004417
Chromosome Location	chr3:23318797-23389422
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:23333702..23336217-chr3:23346722..23349222,2	MCF-7	breast:
2	chr3:23361011..23363823-chr3:23364424..23367156,3	MCF-7	breast:
3	chr3:23361011..23363823-chr3:23364424..23367156,3	MCF-7	breast:
4	chr3:23245352..23245950-chr3:23374735..23375546,2	MCF-7	breast:
5	chr3:23370714..23373096-chr3:23375354..23377337,2	K562	blood:
6	chr3:23375136..23376980-chr3:23383143..23385276,2	MCF-7	breast:
7	chr3:23375136..23376980-chr3:23383143..23385276,2	MCF-7	breast:
8	chr3:23370714..23373096-chr3:23375354..23377337,2	K562	blood:
9	chr3:23333702..23336217-chr3:23346722..23349222,2	MCF-7	breast:
10	chr3:23360954..23362532-chr3:23363082..23365861,2	MCF-7	breast:
11	chr3:23360954..23362532-chr3:23363082..23365861,2	MCF-7	breast:

No data

Extended variants
information (count: 2947 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:2947 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551275689	chr3:23318809-23318810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527473745	chr3:23318811-23318812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112127471	chr3:23318819-23318820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372104529	chr3:23318833-23318834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144056595	chr3:23318869-23318870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566452123	chr3:23318873-23318874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547705963	chr3:23318908-23318909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370374755	chr3:23318916-23318917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533874988	chr3:23318943-23318944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184044086	chr3:23318958-23318959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189170757	chr3:23319024-23319025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537782137	chr3:23319085-23319086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148673961	chr3:23319134-23319135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs5023615	chr3:23319153-23319154	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs200561946	chr3:23319201-23319202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544808490	chr3:23319206-23319207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs193084521	chr3:23319339-23319340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185726553	chr3:23319391-23319392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7636536	chr3:23319413-23319414	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs111768438	chr3:23319414-23319415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190632916	chr3:23319448-23319449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs375275998	chr3:23319449-23319450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529292292	chr3:23319450-23319451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549371625	chr3:23319481-23319482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142155252	chr3:23319524-23319525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181932992	chr3:23319536-23319537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs59051993	chr3:23319544-23319545	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs9847027	chr3:23319579-23319580	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs185121211	chr3:23319580-23319581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188019111	chr3:23319582-23319583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181269765	chr3:23319601-23319602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551956419	chr3:23319666-23319667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537470663	chr3:23319676-23319677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566289575	chr3:23319700-23319701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534888791	chr3:23319751-23319752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571218272	chr3:23319779-23319780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139758211	chr3:23319780-23319781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553732372	chr3:23319848-23319849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145355366	chr3:23319955-23319956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548254660	chr3:23319979-23319980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs115761722	chr3:23319987-23319988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147659949	chr3:23320072-23320073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544624352	chr3:23320074-23320075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140998453	chr3:23320181-23320182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185381246	chr3:23320187-23320188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545660945	chr3:23320189-23320190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560556620	chr3:23320194-23320195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs527901715	chr3:23320254-23320255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs116763566	chr3:23320277-23320278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567026382	chr3:23320347-23320348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:588 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23295200-23321800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr3:23298800-23336600	Weak transcription	Thymus	Thymus
3	chr3:23302400-23321000	Weak transcription	Pancreas	Pancrea
4	chr3:23314400-23319400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:23314400-23330400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:23315400-23321800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr3:23315800-23320000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:23316800-23328000	Weak transcription	Primary B cells from cord blood	blood
9	chr3:23317000-23320600	Weak transcription	Brain Angular Gyrus	brain
10	chr3:23317000-23320800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr3:23317000-23324400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr3:23317600-23318800	Weak transcription	Brain Hippocampus Middle	brain
13	chr3:23317600-23324800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr3:23318000-23319400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr3:23318400-23319000	Enhancers	Brain Substantia Nigra	brain
16	chr3:23318400-23319000	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr3:23318400-23319600	Enhancers	A549	lung
18	chr3:23318400-23320000	Enhancers	Liver	Liver
19	chr3:23318600-23318800	Weak transcription	Fetal Lung	lung
20	chr3:23318600-23319000	Enhancers	Fetal Kidney	kidney
21	chr3:23318600-23319800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:23318800-23319000	Enhancers	Fetal Lung	lung
23	chr3:23318800-23319200	Enhancers	Brain Hippocampus Middle	brain
24	chr3:23319000-23319200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr3:23319000-23321200	Weak transcription	Fetal Lung	lung
26	chr3:23319000-23321800	Weak transcription	Brain Substantia Nigra	brain
27	chr3:23319200-23319600	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr3:23319200-23321000	Weak transcription	Brain Hippocampus Middle	brain
29	chr3:23319400-23319600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr3:23319400-23320800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr3:23319400-23321400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr3:23319800-23321200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:23320000-23320400	Weak transcription	Liver	Liver
34	chr3:23320000-23320600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr3:23320000-23320600	Weak transcription	Brain Anterior Caudate	brain
36	chr3:23320400-23320800	Enhancers	Liver	Liver
37	chr3:23320600-23320800	Enhancers	Brain Angular Gyrus	brain
38	chr3:23320600-23320800	Enhancers	Brain Anterior Caudate	brain
39	chr3:23320800-23321000	Enhancers	Brain Cingulate Gyrus	brain
40	chr3:23320800-23321200	Weak transcription	Brain Angular Gyrus	brain
41	chr3:23320800-23321400	Weak transcription	Brain Anterior Caudate	brain
42	chr3:23320800-23321600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr3:23320800-23321600	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr3:23320800-23322000	Enhancers	Ovary	ovary
45	chr3:23321000-23321200	Enhancers	Pancreas	Pancrea
46	chr3:23321000-23321600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr3:23321000-23322200	Enhancers	Fetal Heart	heart
48	chr3:23321000-23322800	Enhancers	Brain Hippocampus Middle	brain
49	chr3:23321000-23329800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr3:23321200-23321400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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