Variant report

Variant	esv2762445
Chromosome Location	chr2:30814998-30849343
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:30842622..30844913-chr2:30847177..30849056,2	K562	blood:
2	chr2:30839405..30841839-chr2:30843015..30845480,2	K562	blood:
3	chr2:30825445..30827676-chr2:30844344..30846401,2	K562	blood:
4	chr2:30799595..30803220-chr2:30812142..30815504,3	K562	blood:
5	chr2:30669895..30671800-chr2:30834576..30837121,2	K562	blood:
6	chr2:30842415..30844831-chr2:30884004..30885888,2	K562	blood:
7	chr2:30802898..30805656-chr2:30813927..30815833,2	MCF-7	breast:
8	chr2:30849068..30850871-chr2:30861808..30864267,2	K562	blood:
9	chr2:30827400..30830012-chr2:30843352..30845807,2	MCF-7	breast:
10	chr2:30833195..30835314-chr2:30840364..30842718,2	K562	blood:
11	chr2:30848701..30851520-chr2:30857233..30859467,2	K562	blood:
12	chr2:30460198..30462584-chr2:30837486..30839510,2	K562	blood:
13	chr2:30842622..30844929-chr2:30848686..30850869,3	MCF-7	breast:
14	chr2:30825445..30827676-chr2:30844344..30846401,2	K562	blood:
15	chr2:30732905..30735553-chr2:30837081..30838808,2	K562	blood:
16	chr2:30839405..30841839-chr2:30843015..30845480,2	K562	blood:
17	chr2:30842622..30844913-chr2:30847177..30849056,2	K562	blood:
18	chr2:30825418..30827800-chr2:30828713..30831308,3	K562	blood:
19	chr2:30825418..30827800-chr2:30828713..30831308,3	K562	blood:
20	chr2:30842622..30844929-chr2:30848686..30850869,3	MCF-7	breast:
21	chr2:30833195..30835314-chr2:30840364..30842718,2	K562	blood:
22	chr2:30827400..30830012-chr2:30843352..30845807,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000172954	chromatin interactions

Extended variants
information (count: 1457 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1457 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548648373	chr2:30814999-30815000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568726765	chr2:30815002-30815003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537353630	chr2:30815016-30815017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551126382	chr2:30815050-30815051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76125436	chr2:30815068-30815069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563786928	chr2:30815069-30815070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528349072	chr2:30815099-30815100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539681223	chr2:30815112-30815113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558209730	chr2:30815170-30815171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565487705	chr2:30815172-30815173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534311597	chr2:30815209-30815210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13401246	chr2:30815220-30815221	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs142242936	chr2:30815283-30815284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2593455	chr2:30815301-30815302	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs557082245	chr2:30815333-30815334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186421903	chr2:30815343-30815344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs151035912	chr2:30815354-30815355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141222668	chr2:30815408-30815409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145033180	chr2:30815557-30815558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377042903	chr2:30815610-30815611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374673371	chr2:30815695-30815696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs151144199	chr2:30815717-30815718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs61242326	chr2:30815718-30815719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190884246	chr2:30815750-30815751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183076163	chr2:30815751-30815752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561939536	chr2:30815775-30815776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531202159	chr2:30815782-30815783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375585591	chr2:30815791-30815792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550552506	chr2:30815792-30815793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560118951	chr2:30815801-30815802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370222182	chr2:30815838-30815839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550975719	chr2:30815920-30815921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34943940	chr2:30815923-30815924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs55789733	chr2:30815931-30815932	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs533346983	chr2:30815953-30815954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533304117	chr2:30815961-30815962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546833256	chr2:30815982-30815983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs72858988	chr2:30816060-30816061	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs556646374	chr2:30816061-30816062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138761357	chr2:30816185-30816186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138878745	chr2:30816199-30816200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567976119	chr2:30816200-30816201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537080591	chr2:30816273-30816274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10153933	chr2:30816307-30816308	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs577255102	chr2:30816317-30816318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546009776	chr2:30816389-30816390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553212143	chr2:30816426-30816427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573326826	chr2:30816433-30816434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374147891	chr2:30816492-30816493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2363985	chr2:30816562-30816563	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:397 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30758600-30853800	Weak transcription	Thymus	Thymus
2	chr2:30777000-30815800	Weak transcription	Fetal Intestine Small	intestine
3	chr2:30783400-30819800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:30785200-30826600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr2:30785400-30818800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:30786600-30818200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:30786600-30822400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:30786800-30818200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr2:30789000-30816600	Weak transcription	Esophagus	oesophagus
10	chr2:30789200-30818800	Weak transcription	Fetal Intestine Large	intestine
11	chr2:30792600-30863000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:30792800-30818400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:30792800-30818800	Weak transcription	Fetal Kidney	kidney
14	chr2:30792800-30851400	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr2:30796600-30827000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:30798000-30827600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:30798400-30839600	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr2:30807400-30831200	Weak transcription	K562	blood
19	chr2:30807600-30818200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:30807800-30822800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr2:30808000-30817400	Weak transcription	GM12878-XiMat	blood
22	chr2:30808200-30844600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr2:30808400-30818600	Weak transcription	Gastric	stomach
24	chr2:30809800-30816600	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr2:30809800-30822200	Weak transcription	Primary T cells from cord blood	blood
26	chr2:30810200-30818200	Weak transcription	Primary B cells from cord blood	blood
27	chr2:30811200-30821200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:30811200-30821600	Weak transcription	Primary B cells from peripheral blood	blood
29	chr2:30811400-30824800	Weak transcription	Aorta	Aorta
30	chr2:30811400-30834400	Weak transcription	Psoas Muscle	Psoas
31	chr2:30811600-30822800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr2:30811600-30863000	Weak transcription	Ovary	ovary
33	chr2:30811800-30827000	Weak transcription	Left Ventricle	heart
34	chr2:30813000-30834200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:30813200-30832800	Weak transcription	Fetal Heart	heart
36	chr2:30813400-30815000	Enhancers	Fetal Lung	lung
37	chr2:30815000-30834400	Weak transcription	Fetal Lung	lung
38	chr2:30817000-30826400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr2:30818200-30818800	Strong transcription	Primary B cells from cord blood	blood
40	chr2:30818200-30819000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr2:30818200-30819000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:30818400-30818800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:30818400-30831600	Weak transcription	A549	lung
44	chr2:30818800-30819000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr2:30818800-30819000	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr2:30818800-30819000	ZNF genes & repeats	Fetal Intestine Large	intestine
47	chr2:30818800-30819000	ZNF genes & repeats	Fetal Kidney	kidney
48	chr2:30818800-30835000	Weak transcription	Primary B cells from cord blood	blood
49	chr2:30819000-30819400	Weak transcription	Fetal Intestine Large	intestine
50	chr2:30819000-30820400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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