Variant report

Variant	esv2763577
Chromosome Location	chr2:49035249-49053711
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48996460..48999048-chr2:49041792..49043593,2	MCF-7	breast:

Extended variants
information (count: 823 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:823 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62137365	chr2:49035250-49035251	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550621261	chr2:49035257-49035258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568873866	chr2:49035271-49035272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533084162	chr2:49035285-49035286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184132426	chr2:49035289-49035290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145750271	chr2:49035307-49035308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534212694	chr2:49035317-49035318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555651862	chr2:49035400-49035401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567803752	chr2:49035468-49035469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10183851	chr2:49035488-49035489	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs188894143	chr2:49035502-49035503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62137366	chr2:49035525-49035526	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs149210273	chr2:49035554-49035555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113552397	chr2:49035574-49035575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368494986	chr2:49035637-49035638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572478325	chr2:49035644-49035645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190975285	chr2:49035662-49035663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561856202	chr2:49035681-49035682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs72884590	chr2:49035692-49035693	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs75208241	chr2:49035695-49035696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10183901	chr2:49035714-49035715	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs532861301	chr2:49035716-49035717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182737474	chr2:49035724-49035725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545808476	chr2:49035740-49035741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566092226	chr2:49035828-49035829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557462258	chr2:49035847-49035848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555310797	chr2:49035865-49035866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368063654	chr2:49035869-49035870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187014844	chr2:49035900-49035901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34851917	chr2:49035916-49035917	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs541331442	chr2:49036024-49036025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567882941	chr2:49036033-49036034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372645768	chr2:49036046-49036047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538566485	chr2:49036053-49036054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556474058	chr2:49036085-49036086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571849757	chr2:49036104-49036105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539093116	chr2:49036217-49036218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71407521	chr2:49036226-49036227	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs143382027	chr2:49036234-49036235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543059918	chr2:49036243-49036244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549897164	chr2:49036251-49036252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs59960946	chr2:49036303-49036304	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs369308786	chr2:49036313-49036314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544542011	chr2:49036319-49036320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191705644	chr2:49036354-49036355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532971286	chr2:49036372-49036373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544659612	chr2:49036381-49036382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559839284	chr2:49036393-49036394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62137367	chr2:49036411-49036412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527262878	chr2:49036412-49036413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	22522925	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48994600-49080200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:49027200-49037000	Weak transcription	Ovary	ovary
3	chr2:49032800-49039000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:49037000-49037200	Strong transcription	Ovary	ovary
5	chr2:49037200-49045400	Weak transcription	Ovary	ovary
6	chr2:49038600-49039800	Enhancers	Fetal Intestine Large	intestine
7	chr2:49039000-49040000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:49039200-49039800	Enhancers	H9 Cell Line	embryonic stem cell
9	chr2:49039200-49039800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:49039200-49040000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr2:49039200-49040400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr2:49039400-49039600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr2:49039800-49043600	Weak transcription	Fetal Intestine Large	intestine
14	chr2:49040200-49040400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr2:49040400-49041200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr2:49041200-49041400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr2:49042400-49042600	Enhancers	Fetal Intestine Small	intestine
18	chr2:49042600-49043400	Weak transcription	Fetal Intestine Small	intestine
19	chr2:49043400-49045600	Enhancers	Fetal Intestine Small	intestine
20	chr2:49043600-49047000	Enhancers	Fetal Intestine Large	intestine
21	chr2:49045400-49045800	Enhancers	Ovary	ovary
22	chr2:49045800-49046000	Weak transcription	Ovary	ovary
23	chr2:49046000-49046600	Enhancers	Ovary	ovary
24	chr2:49046200-49047000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr2:49046200-49047800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr2:49046600-49053200	Weak transcription	Ovary	ovary

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