Variant report

Variant	esv3518504
Chromosome Location	chr3:34720759-34728145
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:33924890..33925565-chr3:34725299..34726001,2	MCF-7	breast:
2	chr3:34021801..34022436-chr3:34725109..34725617,2	MCF-7	breast:
3	chr3:33925132..33926279-chr3:34725034..34726059,3	K562	blood:
4	chr3:34301756..34302335-chr3:34725095..34725974,2	K562	blood:
5	chr3:34661198..34662050-chr3:34724950..34725978,3	MCF-7	breast:

Extended variants
information (count: 318 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:318 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556781788	chr3:34720796-34720797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs141394248	chr3:34720817-34720818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542457156	chr3:34720830-34720831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74209330	chr3:34720848-34720849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368209482	chr3:34720850-34720851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs398062231	chr3:34720851-34720852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112696922	chr3:34720861-34720862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547951378	chr3:34720862-34720863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114469784	chr3:34720872-34720873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528400085	chr3:34720875-34720876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541013879	chr3:34720916-34720917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192504072	chr3:34720924-34720925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369072640	chr3:34720936-34720937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185487297	chr3:34720946-34720947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs13060690	chr3:34720949-34720950	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs531124951	chr3:34720957-34720958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570515812	chr3:34720962-34720963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549625659	chr3:34721002-34721003	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76001532	chr3:34721062-34721063	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535300391	chr3:34721063-34721064	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190413916	chr3:34721066-34721067	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571173481	chr3:34721069-34721070	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs28505771	chr3:34721071-34721072	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs569525453	chr3:34721118-34721119	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs6799184	chr3:34721126-34721127	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs181668786	chr3:34721138-34721139	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542393839	chr3:34721154-34721155	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554380189	chr3:34721166-34721167	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs6799362	chr3:34721181-34721182	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs540493924	chr3:34721186-34721187	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs74590964	chr3:34721194-34721195	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs6799370	chr3:34721197-34721198	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs143924761	chr3:34721215-34721216	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533614721	chr3:34721217-34721218	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563749957	chr3:34721222-34721223	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563792743	chr3:34721258-34721259	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs146833579	chr3:34721285-34721286	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2160469	chr3:34721333-34721334	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs148983825	chr3:34721348-34721349	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547229275	chr3:34721366-34721367	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571884938	chr3:34721382-34721383	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184421106	chr3:34721388-34721389	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2160468	chr3:34721392-34721393	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs568597950	chr3:34721408-34721409	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs143787149	chr3:34721416-34721417	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs554267738	chr3:34721417-34721418	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572656498	chr3:34721434-34721435	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533758622	chr3:34721458-34721459	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189054216	chr3:34721480-34721481	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181148146	chr3:34721501-34721502	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
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
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	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
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Wilms tumour	17204608	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Kartagener syndrome	16639409	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:34717800-34721600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr3:34718200-34721000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:34718400-34721600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:34719800-34721400	Enhancers	Fetal Intestine Large	intestine
5	chr3:34719800-34722600	Enhancers	K562	blood
6	chr3:34720200-34720800	Enhancers	Fetal Heart	heart
7	chr3:34720400-34721000	Weak transcription	Fetal Intestine Small	intestine
8	chr3:34721000-34721600	ZNF genes & repeats	Fetal Intestine Small	intestine
9	chr3:34721000-34721800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
10	chr3:34721000-34721800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:34721200-34721600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr3:34721200-34721600	ZNF genes & repeats	Thymus	Thymus
13	chr3:34721600-34721800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr3:34721600-34722200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr3:34722200-34734400	Weak transcription	Thymus	Thymus
16	chr3:34725200-34725400	Enhancers	Fetal Intestine Large	intestine
17	chr3:34725200-34725800	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr3:34725200-34725800	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr3:34725400-34729000	Weak transcription	Fetal Intestine Large	intestine
20	chr3:34727000-34727200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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