Variant report

Variant	esv3463425
Chromosome Location	chr3:87889544-87902529
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: 491 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:491 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557954809	chr3:87889549-87889550	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs143699245	chr3:87889579-87889580	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs115140429	chr3:87889630-87889631	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs28786223	chr3:87889668-87889669	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs116218751	chr3:87889741-87889742	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs2130352	chr3:87889752-87889753	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs370584504	chr3:87889776-87889777	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs543516178	chr3:87889785-87889786	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs146804586	chr3:87889809-87889810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs72911672	chr3:87889835-87889836	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs115743886	chr3:87889836-87889837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532290555	chr3:87889870-87889871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190088842	chr3:87889908-87889909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1910401	chr3:87889913-87889914	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs2343771	chr3:87889916-87889917	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs1910400	chr3:87889920-87889921	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs547605942	chr3:87889963-87889964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148932882	chr3:87889986-87889987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143640286	chr3:87890005-87890006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557606620	chr3:87890007-87890008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148174122	chr3:87890029-87890030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562406357	chr3:87890037-87890038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145428008	chr3:87890053-87890054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200072641	chr3:87890056-87890057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537069841	chr3:87890097-87890098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555667595	chr3:87890111-87890112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574008219	chr3:87890134-87890135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528009588	chr3:87890136-87890137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115452281	chr3:87890156-87890157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113368622	chr3:87890157-87890158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183349604	chr3:87890232-87890233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139389370	chr3:87890281-87890282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551780943	chr3:87890323-87890324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141088777	chr3:87890343-87890344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1910399	chr3:87890362-87890363	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs531580184	chr3:87890450-87890451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549778133	chr3:87890464-87890465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73845080	chr3:87890466-87890467	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs202117393	chr3:87890475-87890476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571548487	chr3:87890547-87890548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116000503	chr3:87890567-87890568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539690383	chr3:87890576-87890577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551433624	chr3:87890651-87890652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550294354	chr3:87890653-87890654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146847284	chr3:87890700-87890701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537018413	chr3:87890725-87890726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570029148	chr3:87890741-87890742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555408284	chr3:87890766-87890767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527827296	chr3:87890776-87890777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186476398	chr3:87890777-87890778	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:21 , 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	chr3:87888400-87889600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr3:87888400-87889800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:87889400-87896800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr3:87889600-87891600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:87889800-87892000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:87891600-87892400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr3:87892000-87892400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr3:87892400-87896800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr3:87892400-87896800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr3:87896800-87897600	Strong transcription	Primary hematopoietic stem cells	blood
13	chr3:87896800-87897600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr3:87896800-87897600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr3:87897200-87897600	Enhancers	Primary B cells from cord blood	blood
16	chr3:87897600-87900000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:87897600-87904600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:87897600-87906800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr3:87900000-87901000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr3:87901000-87902200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr3:87902200-87902800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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