Variant report

Variant	esv3352471
Chromosome Location	chr3:523677-526400
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 114 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566414237	chr3:523772-523773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183010153	chr3:523780-523781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535710695	chr3:523784-523785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567045155	chr3:523788-523789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188548988	chr3:523837-523838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557168603	chr3:523857-523858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544142469	chr3:523866-523867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569200257	chr3:523991-523992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540173038	chr3:523997-523998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142152355	chr3:523998-523999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533362243	chr3:524057-524058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150780050	chr3:524058-524059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs62229765	chr3:524061-524062	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs529612443	chr3:524068-524069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555875258	chr3:524129-524130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569597974	chr3:524163-524164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574218048	chr3:524208-524209	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs539826491	chr3:524219-524220	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs115274535	chr3:524230-524231	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs562718112	chr3:524251-524252	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs532983039	chr3:524285-524286	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs139087261	chr3:524290-524291	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs149916317	chr3:524294-524295	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs13434319	chr3:524305-524306	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs548598453	chr3:524317-524318	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs567008276	chr3:524318-524319	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs534252853	chr3:524344-524345	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs550761126	chr3:524365-524366	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs75377177	chr3:524387-524388	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs145716866	chr3:524410-524411	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs75879198	chr3:524426-524427	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs80155048	chr3:524430-524431	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs569387628	chr3:524431-524432	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs377562611	chr3:524436-524437	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs555590584	chr3:524439-524440	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs369496590	chr3:524496-524497	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs2729078	chr3:524513-524514	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs377476311	chr3:524596-524597	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs75719707	chr3:524602-524603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575190089	chr3:524636-524637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374319907	chr3:524640-524641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376302241	chr3:524655-524656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2729080	chr3:524674-524675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2955646	chr3:524691-524692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563690966	chr3:524734-524735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112730133	chr3:524763-524764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113734732	chr3:524813-524814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567079401	chr3:524839-524840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13083302	chr3:524852-524853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76719865	chr3:524869-524870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Cancer	20164920	CNVD
Lung cancer	16618734	CNVD
Autism	18349135	CNVD
Breast cancer	20409316	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Intellectual disability	22045946	CNVD
Squamous cell cancer	19607727	CNVD
Gastric adenocarcinoma	19115996	CNVD
sporadic birth defects	19047251	CNVD
Mental retardation	17124404	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Sudden cardiac death	19188705	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Neuroblastoma	18923191	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	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
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
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20967226	CNVD
Autism	22543975	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Tetralogy of Fallot	22912587	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	20685689	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:522400-524000	Enhancers	Hela-S3	cervix
2	chr3:522800-524000	Enhancers	Fetal Lung	lung
3	chr3:523000-524200	Weak transcription	Aorta	Aorta
4	chr3:523000-525400	Weak transcription	Ovary	ovary
5	chr3:523400-526000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr3:523800-524400	Enhancers	Fetal Brain Male	brain
7	chr3:524000-525400	Weak transcription	Fetal Lung	lung
8	chr3:524000-526200	Weak transcription	Hela-S3	cervix
9	chr3:524200-524400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:524200-524400	Enhancers	Aorta	Aorta
11	chr3:524200-524400	Bivalent Enhancer	Fetal Stomach	stomach
12	chr3:524200-524400	Flanking Bivalent TSS/Enh	Lung	lung
13	chr3:524200-524400	Enhancers	Right Atrium	heart
14	chr3:524200-524600	ZNF genes & repeats	Left Ventricle	heart
15	chr3:524400-525200	Weak transcription	Aorta	Aorta
16	chr3:524600-525600	Weak transcription	Left Ventricle	heart
17	chr3:525200-525600	Active TSS	Right Atrium	heart
18	chr3:525200-526800	Active TSS	Aorta	Aorta
19	chr3:525400-525600	Enhancers	Fetal Stomach	stomach
20	chr3:525400-525600	Weak transcription	Lung	lung
21	chr3:525400-525800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:525400-525800	Enhancers	Ovary	ovary
23	chr3:525400-526000	Enhancers	Fetal Lung	lung
24	chr3:525400-526000	Active TSS	NHDF-Ad	bronchial
25	chr3:525400-526000	Active TSS	NHLF	lung
26	chr3:525600-525800	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr3:525600-525800	Active TSS	Brain Anterior Caudate	brain
28	chr3:525600-525800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr3:525600-525800	Enhancers	Left Ventricle	heart
30	chr3:525600-525800	Enhancers	Pancreas	Pancrea
31	chr3:525600-525800	Flanking Active TSS	Right Atrium	heart
32	chr3:525600-526000	Enhancers	Brain Hippocampus Middle	brain
33	chr3:525600-526000	Enhancers	Lung	lung
34	chr3:525800-526000	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr3:525800-526000	Enhancers	Brain Substantia Nigra	brain
36	chr3:525800-526600	Enhancers	Fetal Muscle Leg	muscle
37	chr3:525800-529200	Weak transcription	Ovary	ovary
38	chr3:526000-526800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr3:526000-527200	Weak transcription	NHLF	lung
40	chr3:526200-526800	Enhancers	Hela-S3	cervix
41	chr3:526200-527000	Enhancers	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links