Variant report

Variant	esv3403261
Chromosome Location	chr3:162497858-162501256
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 158 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:158 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3912606	chr3:162497883-162497884	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140616000	chr3:162497891-162497892	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144996960	chr3:162497896-162497897	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567647663	chr3:162497935-162497936	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530255915	chr3:162497955-162497956	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191245974	chr3:162497964-162497965	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs4140866	chr3:162498022-162498023	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs537603401	chr3:162498040-162498041	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181320223	chr3:162498106-162498107	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147558808	chr3:162498136-162498137	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142003591	chr3:162498147-162498148	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553393054	chr3:162498180-162498181	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573299032	chr3:162498226-162498227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542320240	chr3:162498249-162498250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539161574	chr3:162498286-162498287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113459610	chr3:162498292-162498293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186830058	chr3:162498294-162498295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73167653	chr3:162498322-162498323	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs111645902	chr3:162498344-162498345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375419920	chr3:162498418-162498419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528007240	chr3:162498439-162498440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541733662	chr3:162498496-162498497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561309545	chr3:162498543-162498544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145871034	chr3:162498572-162498573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550305814	chr3:162498588-162498589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575416140	chr3:162498592-162498593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544343074	chr3:162498672-162498673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs58891098	chr3:162498680-162498681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545238331	chr3:162498706-162498707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570017880	chr3:162498733-162498734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs3912607	chr3:162498758-162498759	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs138463494	chr3:162498776-162498777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575488633	chr3:162498782-162498783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs77088992	chr3:162498809-162498810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533880686	chr3:162498847-162498848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191667299	chr3:162498854-162498855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543287337	chr3:162498877-162498878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs206295	chr3:162498896-162498897	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs535813712	chr3:162498978-162498979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs206294	chr3:162498986-162498987	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs114940771	chr3:162499031-162499032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183155737	chr3:162499062-162499063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558923822	chr3:162499067-162499068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs118079584	chr3:162499078-162499079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148866033	chr3:162499109-162499110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565273862	chr3:162499132-162499133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561524244	chr3:162499164-162499165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187881980	chr3:162499171-162499172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368108791	chr3:162499179-162499180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35108358	chr3:162499181-162499182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162495200-162500200	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr3:162496000-162498000	Weak transcription	Dnd41	blood
3	chr3:162497800-162498200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
4	chr3:162497800-162498200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr3:162497800-162498400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:162497800-162498400	Enhancers	Brain Hippocampus Middle	brain
7	chr3:162497800-162498400	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr3:162497800-162498400	Enhancers	Ovary	ovary
9	chr3:162498000-162498400	Enhancers	Small Intestine	intestine
10	chr3:162498000-162498600	Enhancers	Dnd41	blood
11	chr3:162498200-162498800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:162500200-162502600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

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