Variant report

Variant	esv1826356
Chromosome Location	chr2:30809843-30841108
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:30833195..30835314-chr2:30840364..30842718,2	K562	blood:
2	chr2:30827400..30830012-chr2:30843352..30845807,2	MCF-7	breast:
3	chr2:30833195..30835314-chr2:30840364..30842718,2	K562	blood:
4	chr2:30825418..30827800-chr2:30828713..30831308,3	K562	blood:
5	chr2:30839405..30841839-chr2:30843015..30845480,2	K562	blood:
6	chr2:30799595..30803220-chr2:30812142..30815504,3	K562	blood:
7	chr2:30825418..30827800-chr2:30828713..30831308,3	K562	blood:
8	chr2:30732905..30735553-chr2:30837081..30838808,2	K562	blood:
9	chr2:30460198..30462584-chr2:30837486..30839510,2	K562	blood:
10	chr2:30802898..30805656-chr2:30813927..30815833,2	MCF-7	breast:
11	chr2:30809203..30812832-chr2:30884056..30887264,3	K562	blood:
12	chr2:30669895..30671800-chr2:30834576..30837121,2	K562	blood:
13	chr2:30825445..30827676-chr2:30844344..30846401,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000172954	chromatin interactions

Extended variants
information (count: 1287 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1287 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4952154	chr2:30809843-30809844	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs553407865	chr2:30809848-30809849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74882739	chr2:30809853-30809854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146394763	chr2:30809883-30809884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540260582	chr2:30809973-30809974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7559747	chr2:30809981-30809982	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs375331152	chr2:30810031-30810032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs60077705	chr2:30810189-30810190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs72858980	chr2:30810232-30810233	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs138993904	chr2:30810235-30810236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569354125	chr2:30810341-30810342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530600184	chr2:30810361-30810362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562307146	chr2:30810456-30810457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574579253	chr2:30810472-30810473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550418457	chr2:30810481-30810482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs72858981	chr2:30810558-30810559	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs181087369	chr2:30810582-30810583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571381058	chr2:30810632-30810633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149882476	chr2:30810713-30810714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566732341	chr2:30810717-30810718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186112100	chr2:30810744-30810745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373571816	chr2:30810761-30810762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541935131	chr2:30810811-30810812	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190633469	chr2:30810815-30810816	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554507639	chr2:30810830-30810831	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575366707	chr2:30810837-30810838	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111335325	chr2:30810882-30810883	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553227513	chr2:30810895-30810896	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544431630	chr2:30810935-30810936	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557951440	chr2:30811026-30811027	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144932601	chr2:30811045-30811046	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540221110	chr2:30811056-30811057	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199941367	chr2:30811125-30811126	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142624724	chr2:30811151-30811152	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369801077	chr2:30811155-30811156	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs80252381	chr2:30811191-30811192	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541821734	chr2:30811230-30811231	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573947255	chr2:30811231-30811232	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542935849	chr2:30811244-30811245	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184129480	chr2:30811259-30811260	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531795568	chr2:30811267-30811268	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs551977629	chr2:30811274-30811275	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564017686	chr2:30811278-30811279	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533070981	chr2:30811293-30811294	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs148631893	chr2:30811396-30811397	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs368963282	chr2:30811398-30811399	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566496127	chr2:30811413-30811414	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535716002	chr2:30811428-30811429	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549286893	chr2:30811443-30811444	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569162547	chr2:30811453-30811454	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	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
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Medulloblastoma	16968546	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	18927303	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21509527	CNVD
Tetralogy of Fallot	22912587	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:359 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30749000-30812600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:30758600-30853800	Weak transcription	Thymus	Thymus
3	chr2:30766800-30810200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:30774800-30812000	Weak transcription	Fetal Lung	lung
5	chr2:30777000-30815800	Weak transcription	Fetal Intestine Small	intestine
6	chr2:30783400-30819800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:30783800-30811000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr2:30784000-30812200	Weak transcription	NH-A	brain
9	chr2:30785200-30826600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr2:30785400-30818800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:30786600-30818200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr2:30786600-30822400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:30786800-30818200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr2:30789000-30816600	Weak transcription	Esophagus	oesophagus
15	chr2:30789200-30810800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:30789200-30818800	Weak transcription	Fetal Intestine Large	intestine
17	chr2:30790400-30811600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:30790800-30812200	Weak transcription	Right Ventricle	heart
19	chr2:30792400-30810200	Weak transcription	NHEK	skin
20	chr2:30792600-30863000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:30792800-30818400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:30792800-30818800	Weak transcription	Fetal Kidney	kidney
23	chr2:30792800-30851400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr2:30793000-30811800	Weak transcription	NHDF-Ad	bronchial
25	chr2:30796600-30827000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:30798000-30814200	Weak transcription	Fetal Thymus	thymus
27	chr2:30798000-30827600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:30798400-30839600	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr2:30799400-30812400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr2:30804000-30811400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr2:30804200-30811000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr2:30805800-30812000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr2:30806200-30810800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:30806400-30810000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:30807200-30810800	Weak transcription	Aorta	Aorta
36	chr2:30807200-30811000	Weak transcription	Psoas Muscle	Psoas
37	chr2:30807400-30810200	Enhancers	Primary B cells from cord blood	blood
38	chr2:30807400-30810800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr2:30807400-30811800	Weak transcription	Osteobl	bone
40	chr2:30807400-30812200	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr2:30807400-30831200	Weak transcription	K562	blood
42	chr2:30807600-30811000	Weak transcription	Ovary	ovary
43	chr2:30807600-30818200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:30807800-30811200	Weak transcription	HSMM	muscle
45	chr2:30807800-30822800	Weak transcription	Primary hematopoietic stem cells	blood
46	chr2:30808000-30817400	Weak transcription	GM12878-XiMat	blood
47	chr2:30808200-30844600	Weak transcription	Duodenum Mucosa	Duodenum
48	chr2:30808400-30812000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:30808400-30818600	Weak transcription	Gastric	stomach
50	chr2:30808800-30810800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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