Variant report

Variant	esv10240
Chromosome Location	chr2:11832427-11837975
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:11832958..11833976-chr2:11924790..11925426,3	MCF-7	breast:
2	chr2:11828699..11830318-chr2:11834371..11836055,2	K562	blood:
3	chr2:11832816..11833693-chr2:11918698..11919916,5	K562	blood:
4	chr2:11837517..11840283-chr2:11849750..11852700,2	MCF-7	breast:
5	chr2:11828589..11830504-chr2:11831137..11833222,3	K562	blood:
6	chr2:11821317..11823796-chr2:11831362..11833008,2	MCF-7	breast:
7	chr2:11832764..11833679-chr2:11919280..11919852,3	MCF-7	breast:
8	chr2:11826228..11828795-chr2:11831285..11833556,4	MCF-7	breast:
9	chr2:11827607..11830089-chr2:11831192..11833222,2	K562	blood:
10	chr2:11832588..11833837-chr2:11918873..11919890,5	MCF-7	breast:
11	chr2:11832559..11835214-chr2:11848775..11850407,2	MCF-7	breast:
12	chr2:11831783..11832525-chr2:11919378..11919951,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000228496	chromatin interactions

Extended variants
information (count: 252 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:252 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148305847	chr2:11832440-11832441	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs539168582	chr2:11832466-11832467	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs372795845	chr2:11832479-11832480	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs576566191	chr2:11832486-11832487	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs10180912	chr2:11832503-11832504	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs555776342	chr2:11832529-11832530	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs59502453	chr2:11832538-11832539	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs148076920	chr2:11832580-11832581	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs181987568	chr2:11832646-11832647	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs141894342	chr2:11832662-11832663	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs61430487	chr2:11832665-11832666	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs371363688	chr2:11832687-11832688	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs564258739	chr2:11832701-11832702	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs12618850	chr2:11832717-11832718	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs554473167	chr2:11832719-11832720	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs11675793	chr2:11832730-11832731	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs571172309	chr2:11832736-11832737	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs560304974	chr2:11832751-11832752	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs58273936	chr2:11832780-11832781	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs113332549	chr2:11832786-11832787	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs369434059	chr2:11832787-11832788	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs377249451	chr2:11832788-11832789	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs546959872	chr2:11832797-11832798	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs57245099	chr2:11832825-11832826	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs532998404	chr2:11832847-11832848	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs13387137	chr2:11832864-11832865	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs182271532	chr2:11832874-11832875	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs537233547	chr2:11832933-11832934	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs556026774	chr2:11832949-11832950	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs185503273	chr2:11832967-11832968	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs535357088	chr2:11832987-11832988	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs150212465	chr2:11833004-11833005	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs138899728	chr2:11833027-11833028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190068578	chr2:11833114-11833115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557163566	chr2:11833212-11833213	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs34510644	chr2:11833219-11833220	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs575727637	chr2:11833251-11833252	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs73179361	chr2:11833268-11833269	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs561567308	chr2:11833296-11833297	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs201682764	chr2:11833330-11833331	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs34503437	chr2:11833346-11833347	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs73179363	chr2:11833370-11833371	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs540932038	chr2:11833373-11833374	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs559271439	chr2:11833446-11833447	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs4389306	chr2:11833459-11833460	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs551391107	chr2:11833526-11833527	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs569631972	chr2:11833553-11833554	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs574887513	chr2:11833586-11833587	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs530654947	chr2:11833587-11833588	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs71446427	chr2:11833614-11833615	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	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
Esophageal adenocarcinoma	18519675	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Breast cancer	22522925	CNVD
Medulloblastoma	20607354	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:220 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11828800-11833400	Weak transcription	Colonic Mucosa	Colon
2	chr2:11828800-11833400	Weak transcription	Pancreas	Pancrea
3	chr2:11828800-11836800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:11829000-11833200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:11829000-11833200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:11829000-11833200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr2:11829000-11836600	Weak transcription	Fetal Thymus	thymus
8	chr2:11829000-11836600	Weak transcription	Right Atrium	heart
9	chr2:11829000-11836800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:11829200-11833000	Weak transcription	Primary B cells from peripheral blood	blood
11	chr2:11829200-11833000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr2:11829200-11833000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr2:11829200-11833000	Weak transcription	Liver	Liver
14	chr2:11829200-11833200	Weak transcription	Placenta	Placenta
15	chr2:11829200-11833200	Weak transcription	K562	blood
16	chr2:11829200-11833400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr2:11829200-11833400	Weak transcription	Fetal Intestine Large	intestine
18	chr2:11829200-11836000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr2:11829200-11836400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:11829200-11836600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr2:11829200-11836600	Weak transcription	Brain Hippocampus Middle	brain
22	chr2:11829200-11836800	Weak transcription	HUVEC	blood vessel
23	chr2:11829200-11837000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:11829200-11837000	Weak transcription	HSMM	muscle
25	chr2:11829200-11838400	Weak transcription	Fetal Lung	lung
26	chr2:11829400-11833200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:11829400-11833200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:11829400-11833200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr2:11829400-11833200	Weak transcription	Fetal Muscle Leg	muscle
30	chr2:11829400-11833200	Weak transcription	Ovary	ovary
31	chr2:11829400-11833200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr2:11829400-11833200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr2:11829400-11833200	Weak transcription	A549	lung
34	chr2:11829400-11833200	Weak transcription	Dnd41	blood
35	chr2:11829400-11833200	Weak transcription	NHDF-Ad	bronchial
36	chr2:11829400-11836400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:11829400-11836600	Weak transcription	Brain Anterior Caudate	brain
38	chr2:11829400-11836600	Weak transcription	NHEK	skin
39	chr2:11829400-11836800	Weak transcription	Brain Substantia Nigra	brain
40	chr2:11829400-11836800	Weak transcription	Colon Smooth Muscle	Colon
41	chr2:11829400-11837000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:11829400-11837000	Weak transcription	Fetal Heart	heart
43	chr2:11829400-11841800	Weak transcription	Primary B cells from cord blood	blood
44	chr2:11829600-11833200	Weak transcription	Hela-S3	cervix
45	chr2:11829600-11833400	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr2:11831000-11833000	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr2:11831400-11833800	Enhancers	Adipose Nuclei	Adipose
48	chr2:11831800-11835200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr2:11832000-11833800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:11832200-11833200	Weak transcription	Primary monocytes fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links