Variant report

Variant	esv2421847
Chromosome Location	chr3:87892012-87902253
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:87890331..87892526-chr3:87894375..87897348,2	K562	blood:
2	chr3:87890331..87892526-chr3:87894375..87897348,2	K562	blood:
3	chr3:87875136..87878119-chr3:87897744..87900423,2	K562	blood:

Extended variants
information (count: 379 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:379 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2938279	chr3:87892012-87892013	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs571470212	chr3:87892019-87892020	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs538562946	chr3:87892069-87892070	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs139315483	chr3:87892078-87892079	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs187426402	chr3:87892144-87892145	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs371955486	chr3:87892161-87892162	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs568708533	chr3:87892167-87892168	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs536069187	chr3:87892170-87892171	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs192618041	chr3:87892218-87892219	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs574064198	chr3:87892247-87892248	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs553028329	chr3:87892286-87892287	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs72911674	chr3:87892361-87892362	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs572833840	chr3:87892402-87892403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553103151	chr3:87892413-87892414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2919240	chr3:87892446-87892447	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs184812523	chr3:87892450-87892451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369285190	chr3:87892488-87892489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2919239	chr3:87892515-87892516	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs564002753	chr3:87892607-87892608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189741256	chr3:87892633-87892634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543261414	chr3:87892661-87892662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574132203	chr3:87892662-87892663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560938591	chr3:87892674-87892675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528175948	chr3:87892749-87892750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376009344	chr3:87892757-87892758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs58359957	chr3:87892774-87892775	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs299800	chr3:87892816-87892817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs36180414	chr3:87892823-87892824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139045094	chr3:87892824-87892825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs58807598	chr3:87892828-87892829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7621390	chr3:87892829-87892830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28683800	chr3:87892830-87892831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs55727089	chr3:87892834-87892835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs67710636	chr3:87892835-87892836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564714283	chr3:87892843-87892844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543637216	chr3:87892867-87892868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532179476	chr3:87892892-87892893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561450632	chr3:87892907-87892908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192690628	chr3:87892924-87892925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183964218	chr3:87892982-87892983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536005909	chr3:87893007-87893008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201516357	chr3:87893049-87893050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547985331	chr3:87893089-87893090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs56277603	chr3:87893095-87893096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534799707	chr3:87893122-87893123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553478477	chr3:87893124-87893125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577939815	chr3:87893126-87893127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539072220	chr3:87893127-87893128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557654889	chr3:87893174-87893175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576031698	chr3:87893235-87893236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
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
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Non-small cell lung cancer	21829676	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:87867800-87912800	Weak transcription	K562	blood
2	chr3:87882200-87907600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr3:87889400-87896800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr3:87891600-87892400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr3:87892000-87892400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:87892400-87896800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:87892400-87896800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:87896800-87897600	Strong transcription	Primary hematopoietic stem cells	blood
9	chr3:87896800-87897600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr3:87896800-87897600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr3:87897200-87897600	Enhancers	Primary B cells from cord blood	blood
12	chr3:87897600-87900000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:87897600-87904600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr3:87897600-87906800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr3:87900000-87901000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr3:87901000-87902200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:87902200-87902800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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