Variant report

Variant	esv2760623
Chromosome Location	chr2:7233524-7234476
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:7229585..7232246-chr2:7232554..7234108,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533576573	chr2:7233557-7233558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185922120	chr2:7233570-7233571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562217806	chr2:7233586-7233587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531116741	chr2:7233678-7233679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551230355	chr2:7233753-7233754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571033914	chr2:7233758-7233759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373456285	chr2:7233803-7233804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546242244	chr2:7233828-7233829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566469664	chr2:7233852-7233853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541156141	chr2:7233881-7233882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535154601	chr2:7233899-7233900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10929459	chr2:7233912-7233913	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs568654968	chr2:7233929-7233930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537636012	chr2:7233930-7233931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146790372	chr2:7233975-7233976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577833637	chr2:7234025-7234026	Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540536900	chr2:7234030-7234031	Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553052189	chr2:7234054-7234055	Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532965722	chr2:7234059-7234060	Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573193288	chr2:7234063-7234064	Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4668520	chr2:7234095-7234096	Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs4669132	chr2:7234114-7234115	Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs531054455	chr2:7234122-7234123	Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189077945	chr2:7234124-7234125	Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564716691	chr2:7234128-7234129	Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533416145	chr2:7234137-7234138	Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529104382	chr2:7234138-7234139	Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181261843	chr2:7234139-7234140	Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139480729	chr2:7234210-7234211	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs116189195	chr2:7234211-7234212	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs548606389	chr2:7234234-7234235	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs2882922	chr2:7234243-7234244	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs537573889	chr2:7234264-7234265	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs528256360	chr2:7234308-7234309	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs557635333	chr2:7234312-7234313	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs529624516	chr2:7234318-7234319	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs551643754	chr2:7234403-7234404	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs370601176	chr2:7234411-7234412	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs560856984	chr2:7234430-7234431	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs571429512	chr2:7234438-7234439	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs371316734	chr2:7234469-7234470	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs533800660	chr2:7234470-7234471	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Neuroblastoma	18923524	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:7194200-7234000	Weak transcription	Pancreas	Pancrea
2	chr2:7214400-7234000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:7224600-7237400	Weak transcription	Dnd41	blood
4	chr2:7226400-7235600	Weak transcription	Spleen	Spleen
5	chr2:7226400-7237600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr2:7229400-7234000	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:7230800-7234000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:7231200-7234000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:7232000-7237600	Weak transcription	Ovary	ovary
10	chr2:7232800-7234200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:7233600-7233800	Enhancers	Gastric	stomach
12	chr2:7233600-7235600	Enhancers	Fetal Kidney	kidney
13	chr2:7233800-7236200	Weak transcription	Lung	lung
14	chr2:7233800-7237800	Weak transcription	Gastric	stomach
15	chr2:7234000-7234200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:7234000-7234200	Enhancers	Pancreas	Pancrea
17	chr2:7234000-7234400	Enhancers	Fetal Heart	heart
18	chr2:7234000-7234600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:7234000-7234600	Enhancers	Fetal Lung	lung
20	chr2:7234000-7234800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:7234000-7234800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr2:7234000-7234800	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr2:7234000-7235200	Enhancers	Fetal Muscle Leg	muscle
24	chr2:7234000-7235400	Enhancers	Fetal Intestine Large	intestine
25	chr2:7234200-7234600	Enhancers	Fetal Muscle Trunk	muscle
26	chr2:7234200-7234600	Weak transcription	Pancreas	Pancrea
27	chr2:7234200-7234600	Enhancers	NH-A	brain
28	chr2:7234200-7234800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:7234200-7235000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr2:7234200-7235000	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr2:7234200-7235200	Bivalent Enhancer	Fetal Stomach	stomach
32	chr2:7234200-7235200	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr2:7234400-7237400	Weak transcription	Fetal Heart	heart

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