Variant report

Variant	esv15834
Chromosome Location	chr2:7230036-7235715
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	chr2:7229585..7232246-chr2:7232554..7234108,2	K562	blood:
3	chr2:7229093..7231064-chr2:7236083..7237840,2	K562	blood:

Extended variants
information (count: 212 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:212 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs60129244	chr2:7230045-7230046	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370371915	chr2:7230091-7230092	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373379530	chr2:7230102-7230103	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs16865922	chr2:7230104-7230105	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs538891602	chr2:7230117-7230118	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534705392	chr2:7230138-7230139	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565880353	chr2:7230143-7230144	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534188003	chr2:7230144-7230145	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553911322	chr2:7230164-7230165	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574056477	chr2:7230175-7230176	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536368973	chr2:7230199-7230200	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112028840	chr2:7230249-7230250	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75738231	chr2:7230264-7230265	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576233489	chr2:7230271-7230272	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558084197	chr2:7230354-7230355	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189422602	chr2:7230367-7230368	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557072522	chr2:7230383-7230384	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377537859	chr2:7230400-7230401	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577954113	chr2:7230415-7230416	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148229300	chr2:7230511-7230512	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541002698	chr2:7230531-7230532	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560746312	chr2:7230537-7230538	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62105866	chr2:7230538-7230539	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549908742	chr2:7230549-7230550	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73149320	chr2:7230581-7230582	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs532342305	chr2:7230588-7230589	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552440650	chr2:7230592-7230593	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565949064	chr2:7230613-7230614	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528403109	chr2:7230655-7230656	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547740997	chr2:7230657-7230658	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567561892	chr2:7230682-7230683	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536299748	chr2:7230741-7230742	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556236352	chr2:7230747-7230748	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569857023	chr2:7230749-7230750	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79943174	chr2:7230750-7230751	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558915588	chr2:7230752-7230753	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76017088	chr2:7230807-7230808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541379083	chr2:7230876-7230877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192469122	chr2:7230877-7230878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114066588	chr2:7230889-7230890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79260662	chr2:7230898-7230899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373094531	chr2:7230907-7230908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7591271	chr2:7230910-7230911	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs561319271	chr2:7230911-7230912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545997493	chr2:7230929-7230930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559305001	chr2:7230941-7230942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74962153	chr2:7230987-7230988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1979187	chr2:7230988-7230989	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs548191527	chr2:7231040-7231041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73149321	chr2:7231102-7231103	Enhancers 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:57 , 50 per page) page: 1 2

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	chr2:7230000-7230800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:7230000-7231200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:7230200-7230600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:7230800-7234000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:7231000-7232200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:7231200-7231400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr2:7231200-7234000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:7232000-7237600	Weak transcription	Ovary	ovary
15	chr2:7232800-7234200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:7233600-7233800	Enhancers	Gastric	stomach
17	chr2:7233600-7235600	Enhancers	Fetal Kidney	kidney
18	chr2:7233800-7236200	Weak transcription	Lung	lung
19	chr2:7233800-7237800	Weak transcription	Gastric	stomach
20	chr2:7234000-7234200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:7234000-7234200	Enhancers	Pancreas	Pancrea
22	chr2:7234000-7234400	Enhancers	Fetal Heart	heart
23	chr2:7234000-7234600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:7234000-7234600	Enhancers	Fetal Lung	lung
25	chr2:7234000-7234800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:7234000-7234800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:7234000-7234800	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr2:7234000-7235200	Enhancers	Fetal Muscle Leg	muscle
29	chr2:7234000-7235400	Enhancers	Fetal Intestine Large	intestine
30	chr2:7234200-7234600	Enhancers	Fetal Muscle Trunk	muscle
31	chr2:7234200-7234600	Weak transcription	Pancreas	Pancrea
32	chr2:7234200-7234600	Enhancers	NH-A	brain
33	chr2:7234200-7234800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:7234200-7235000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr2:7234200-7235000	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr2:7234200-7235200	Bivalent Enhancer	Fetal Stomach	stomach
37	chr2:7234200-7235200	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr2:7234400-7237400	Weak transcription	Fetal Heart	heart
39	chr2:7234600-7234800	Enhancers	Colon Smooth Muscle	Colon
40	chr2:7234600-7235000	Weak transcription	Fetal Lung	lung
41	chr2:7234600-7236800	Weak transcription	NH-A	brain
42	chr2:7234600-7237200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:7234600-7237600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr2:7234800-7235400	Enhancers	Duodenum Mucosa	Duodenum
45	chr2:7234800-7236800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr2:7234800-7237600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr2:7234800-7237600	Weak transcription	Colon Smooth Muscle	Colon
48	chr2:7234800-7249800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr2:7235000-7235200	Enhancers	Fetal Lung	lung
50	chr2:7235000-7237600	Weak transcription	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links