Variant report

Variant	esv3460790
Chromosome Location	chr2:11520574-11520843
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11484399..11488714-chr2:11519087..11522715,4	MCF-7	breast:
2	chr2:11520154..11521911-chr2:11530185..11533022,2	MCF-7	breast:
3	chr2:11516205..11518065-chr2:11518508..11520842,3	MCF-7	breast:
4	chr2:11514491..11518486-chr2:11518719..11524773,5	K562	blood:

Variant related genes	Relation type
ENSG00000231403	chromatin interactions
ENSG00000134318	chromatin interactions

Extended variants
information (count: 54 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555468650	chr2:11520574-11520575	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs200726989	chr2:11520585-11520586	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs5829302	chr2:11520586-11520587	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs5028162	chr2:11520587-11520588	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
5	rs62118901	chr2:11520596-11520597	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs36062493	chr2:11520601-11520602	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs544836244	chr2:11520612-11520613	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs201016396	chr2:11520613-11520614	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs7424718	chr2:11520623-11520624	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs7423085	chr2:11520625-11520626	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs10623832	chr2:11520647-11520648	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs34552073	chr2:11520648-11520649	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs7424719	chr2:11520659-11520660	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs7423088	chr2:11520663-11520664	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs142233637	chr2:11520668-11520669	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs181045030	chr2:11520671-11520672	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs186351106	chr2:11520672-11520673	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs13433013	chr2:11520688-11520689	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs200052752	chr2:11520690-11520691	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs34957662	chr2:11520691-11520692	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs7423090	chr2:11520693-11520694	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs7424721	chr2:11520699-11520700	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs28414138	chr2:11520701-11520702	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs7423091	chr2:11520703-11520704	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs13030662	chr2:11520705-11520706	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs374740329	chr2:11520708-11520709	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs575241984	chr2:11520721-11520722	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs191182880	chr2:11520723-11520724	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs560327778	chr2:11520732-11520733	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs544941100	chr2:11520735-11520736	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs28497719	chr2:11520744-11520745	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs532536232	chr2:11520745-11520746	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs28604975	chr2:11520746-11520747	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs13036171	chr2:11520750-11520751	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs563237378	chr2:11520754-11520755	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs563755874	chr2:11520757-11520758	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs552240584	chr2:11520769-11520770	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs563007349	chr2:11520771-11520772	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs182925272	chr2:11520781-11520782	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs61539697	chr2:11520783-11520784	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs12986523	chr2:11520786-11520787	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs567101987	chr2:11520793-11520794	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs59823920	chr2:11520795-11520796	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs60662766	chr2:11520804-11520805	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs202149447	chr2:11520815-11520816	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs575612956	chr2:11520816-11520817	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs561078389	chr2:11520817-11520818	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs183297637	chr2:11520819-11520820	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs59376028	chr2:11520829-11520830	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs57276704	chr2:11520830-11520831	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11515400-11526000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:11516000-11526000	Weak transcription	Aorta	Aorta
3	chr2:11516200-11522400	Weak transcription	Hela-S3	cervix
4	chr2:11516200-11528400	Weak transcription	Pancreas	Pancrea
5	chr2:11517600-11536400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:11518600-11525800	Weak transcription	HSMM	muscle
7	chr2:11519000-11537400	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:11519200-11523800	Weak transcription	Fetal Intestine Large	intestine
9	chr2:11519200-11525200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:11519200-11530800	Weak transcription	Brain Anterior Caudate	brain
11	chr2:11519400-11521000	Weak transcription	A549	lung
12	chr2:11519600-11521800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:11519600-11524000	Weak transcription	Fetal Intestine Small	intestine
14	chr2:11519600-11525800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr2:11519800-11520800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:11519800-11521200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr2:11520000-11526000	Weak transcription	Lung	lung
18	chr2:11520000-11526200	Weak transcription	Right Atrium	heart
19	chr2:11520000-11529400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:11520200-11522400	Weak transcription	NHDF-Ad	bronchial
21	chr2:11520200-11522800	Enhancers	HepG2	liver
22	chr2:11520200-11526000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr2:11520200-11526200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:11520200-11526200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr2:11520200-11527800	Weak transcription	Small Intestine	intestine
26	chr2:11520200-11531600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:11520400-11521400	Weak transcription	Fetal Lung	lung
28	chr2:11520400-11525400	Weak transcription	Liver	Liver
29	chr2:11520400-11525600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:11520400-11525800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:11520400-11525800	Weak transcription	Fetal Heart	heart
32	chr2:11520400-11525800	Weak transcription	Osteobl	bone
33	chr2:11520600-11521000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:11520800-11521600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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