Variant report

Variant	esv1844855
Chromosome Location	chr2:54987215-55012202
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:54990527..54991452-chr2:55065478..55066629,7	MCF-7	breast:
2	chr2:55010731..55013685-chr2:55129900..55132615,2	K562	blood:
3	chr2:54999349..55001528-chr2:55002903..55005507,2	MCF-7	breast:
4	chr2:55008139..55011075-chr2:55013927..55016853,2	K562	blood:
5	chr2:54985006..54987163-chr2:54989443..54991408,2	K562	blood:
6	chr2:54985673..54988150-chr2:54994047..54996597,3	K562	blood:
7	chr2:54994263..54996160-chr2:55006143..55008634,2	K562	blood:
8	chr2:54999349..55001528-chr2:55002903..55005507,2	MCF-7	breast:
9	chr2:55001781..55004496-chr2:55092891..55095421,2	K562	blood:
10	chr2:54978781..54981427-chr2:54989483..54991414,2	MCF-7	breast:
11	chr2:54990457..54991237-chr2:55402468..55403339,2	MCF-7	breast:
12	chr2:54984889..54987163-chr2:54988592..54991408,3	K562	blood:
13	chr2:54992606..54995147-chr2:54997836..54999443,2	MCF-7	breast:
14	chr2:54992606..54995147-chr2:54997836..54999443,2	MCF-7	breast:
15	chr2:54985673..54988150-chr2:54994047..54996597,3	K562	blood:
16	chr2:54994263..54996160-chr2:55006143..55008634,2	K562	blood:
17	chr2:54990391..54992574-chr2:55063841..55065808,2	MCF-7	breast:
18	chr2:54990315..54991347-chr2:55065566..55066286,4	MCF-7	breast:

No data

Extended variants
information (count: 808 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:808 , 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	rs13412839	chr2:54987215-54987216	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs12622172	chr2:54987229-54987230	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs79585151	chr2:54987251-54987252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114394619	chr2:54987278-54987279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564740143	chr2:54987300-54987301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373422811	chr2:54987343-54987344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541986133	chr2:54987358-54987359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6712305	chr2:54987407-54987408	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs547173329	chr2:54987435-54987436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564731000	chr2:54987536-54987537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566974724	chr2:54987548-54987549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535574760	chr2:54987563-54987564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368807435	chr2:54987585-54987586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6712532	chr2:54987596-54987597	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs545898195	chr2:54987676-54987677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148886275	chr2:54987681-54987682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537381737	chr2:54987716-54987717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556860172	chr2:54987769-54987770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576693829	chr2:54987796-54987797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368438655	chr2:54987843-54987844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181358984	chr2:54987847-54987848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550989624	chr2:54987865-54987866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552706261	chr2:54987924-54987925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371847905	chr2:54987931-54987932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11891165	chr2:54987940-54987941	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs200476039	chr2:54987960-54987961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77578585	chr2:54987962-54987963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541542415	chr2:54987967-54987968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs168530	chr2:54987987-54987988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs241868	chr2:54987993-54987994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2578717	chr2:54988059-54988060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533127506	chr2:54988087-54988088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185288969	chr2:54988109-54988110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143704580	chr2:54988135-54988136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188196783	chr2:54988180-54988181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2578718	chr2:54988182-54988183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564778892	chr2:54988193-54988194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533618457	chr2:54988209-54988210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs180743595	chr2:54988254-54988255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547036911	chr2:54988293-54988294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566935984	chr2:54988311-54988312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560658156	chr2:54988349-54988350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187565255	chr2:54988402-54988403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374685084	chr2:54988433-54988434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs80309373	chr2:54988490-54988491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549187941	chr2:54988535-54988536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373305641	chr2:54988555-54988556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7567746	chr2:54988626-54988627	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs369763645	chr2:54988664-54988665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551323912	chr2:54988716-54988717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Lung adenocarcinoma	17086460	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
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
XY gonadal dysgenesis	20685758	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54983600-54991600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:54984800-54991000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:54985200-54990800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:54985600-54988600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:54985800-54995400	Weak transcription	Primary B cells from cord blood	blood
6	chr2:54986200-54987400	Weak transcription	GM12878-XiMat	blood
7	chr2:54986400-54987600	Weak transcription	NHDF-Ad	bronchial
8	chr2:54986400-54991000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:54986400-54991600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr2:54986800-54991200	Weak transcription	NHEK	skin
11	chr2:54987400-54987800	Enhancers	GM12878-XiMat	blood
12	chr2:54987800-54990800	Weak transcription	Spleen	Spleen
13	chr2:54990800-54991200	ZNF genes & repeats	Right Atrium	heart
14	chr2:54990800-54991200	Enhancers	Spleen	Spleen
15	chr2:54990800-54991200	Enhancers	HepG2	liver
16	chr2:54990800-54992000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr2:54991000-54992000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:54991000-54992000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:54991200-54992000	Enhancers	NHEK	skin
20	chr2:54991600-54992000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:54991600-54992000	Enhancers	HMEC	breast
22	chr2:54991600-54992200	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr2:54991800-54992200	Enhancers	Fetal Brain Female	brain
24	chr2:54992000-54993400	Weak transcription	NHEK	skin
25	chr2:54992000-54993600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr2:54992000-54994200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:54992000-54994200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:54992000-54994200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:54992000-54994600	Weak transcription	HMEC	breast
30	chr2:54992200-54998600	Weak transcription	Fetal Brain Female	brain
31	chr2:54993400-54995600	Enhancers	NHEK	skin
32	chr2:54993600-54996600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr2:54994200-54995200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:54994200-54995600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:54994200-54995600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:54994200-54995600	Enhancers	Hela-S3	cervix
37	chr2:54994400-54995800	Enhancers	HUVEC	blood vessel
38	chr2:54994600-54994800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:54994600-54995600	Enhancers	HMEC	breast
40	chr2:54994600-54996200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:54994800-54995000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:54994800-54995800	Enhancers	Primary B cells from peripheral blood	blood
43	chr2:54994800-54995800	Enhancers	Muscle Satellite Cultured Cells	--
44	chr2:54994800-54996400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:54995000-54995600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:54995000-54995600	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr2:54995000-54995600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:54995000-54995600	Enhancers	HSMMtube	muscle
49	chr2:54995000-54995600	Enhancers	NH-A	brain
50	chr2:54995000-54995600	Enhancers	NHDF-Ad	bronchial

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