Variant report

Variant	esv2421692
Chromosome Location	chr2:7230988-7234476
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:7229585..7232246-chr2:7232554..7234108,2	K562	blood:
2	chr2:7229093..7231064-chr2:7236083..7237840,2	K562	blood:
3	chr2:7229585..7232246-chr2:7232554..7234108,2	K562	blood:

Extended variants
information (count: 121 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1979187	chr2:7230988-7230989	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548191527	chr2:7231040-7231041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73149321	chr2:7231102-7231103	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs527336779	chr2:7231121-7231122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143330100	chr2:7231124-7231125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549798804	chr2:7231127-7231128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569795513	chr2:7231140-7231141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547174405	chr2:7231216-7231217	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs10182281	chr2:7231233-7231234	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs185612406	chr2:7231288-7231289	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs566147798	chr2:7231314-7231315	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs77890054	chr2:7231317-7231318	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs554959508	chr2:7231328-7231329	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs16865923	chr2:7231380-7231381	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs550078559	chr2:7231387-7231388	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs375648351	chr2:7231530-7231531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62105867	chr2:7231573-7231574	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs576984687	chr2:7231578-7231579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535284072	chr2:7231585-7231586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545596148	chr2:7231612-7231613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559452824	chr2:7231633-7231634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201006448	chr2:7231645-7231646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528270952	chr2:7231647-7231648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs58972777	chr2:7231656-7231657	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs7567367	chr2:7231665-7231666	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs113807061	chr2:7231732-7231733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530743489	chr2:7231738-7231739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs58734635	chr2:7231744-7231745	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs534439055	chr2:7231773-7231774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563360486	chr2:7231775-7231776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532431548	chr2:7231794-7231795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573278800	chr2:7231799-7231800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150896931	chr2:7231809-7231810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534894773	chr2:7231811-7231812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs59638958	chr2:7231849-7231850	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs568747880	chr2:7231850-7231851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs62105868	chr2:7231905-7231906	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs556963218	chr2:7231918-7231919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576918209	chr2:7231984-7231985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539465831	chr2:7232156-7232157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139398779	chr2:7232207-7232208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556976256	chr2:7232248-7232249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534837017	chr2:7232327-7232328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573923445	chr2:7232381-7232382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557273948	chr2:7232448-7232449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371222409	chr2:7232450-7232451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4669131	chr2:7232478-7232479	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs571648335	chr2:7232495-7232496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575159473	chr2:7232534-7232535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs56115537	chr2:7232582-7232583	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:36 , 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	chr2:7230000-7231200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:7230800-7234000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:7231000-7232200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:7231200-7231400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr2:7231200-7234000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:7232000-7237600	Weak transcription	Ovary	ovary
13	chr2:7232800-7234200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr2:7233600-7233800	Enhancers	Gastric	stomach
15	chr2:7233600-7235600	Enhancers	Fetal Kidney	kidney
16	chr2:7233800-7236200	Weak transcription	Lung	lung
17	chr2:7233800-7237800	Weak transcription	Gastric	stomach
18	chr2:7234000-7234200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:7234000-7234200	Enhancers	Pancreas	Pancrea
20	chr2:7234000-7234400	Enhancers	Fetal Heart	heart
21	chr2:7234000-7234600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:7234000-7234600	Enhancers	Fetal Lung	lung
23	chr2:7234000-7234800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:7234000-7234800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:7234000-7234800	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr2:7234000-7235200	Enhancers	Fetal Muscle Leg	muscle
27	chr2:7234000-7235400	Enhancers	Fetal Intestine Large	intestine
28	chr2:7234200-7234600	Enhancers	Fetal Muscle Trunk	muscle
29	chr2:7234200-7234600	Weak transcription	Pancreas	Pancrea
30	chr2:7234200-7234600	Enhancers	NH-A	brain
31	chr2:7234200-7234800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:7234200-7235000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr2:7234200-7235000	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr2:7234200-7235200	Bivalent Enhancer	Fetal Stomach	stomach
35	chr2:7234200-7235200	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr2:7234400-7237400	Weak transcription	Fetal Heart	heart

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