Variant report

Variant	esv2474783
Chromosome Location	chr2:55265536-55266830
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55257553..55263983-chr2:55266645..55270936,7	K562	blood:
2	chr2:55258298..55260902-chr2:55265959..55268145,3	MCF-7	breast:
3	chr2:55255745..55260236-chr2:55263069..55266549,5	K562	blood:
4	chr2:55253298..55255265-chr2:55265294..55267097,2	MCF-7	breast:
5	chr2:55265645..55268025-chr2:55268205..55270605,2	MCF-7	breast:
6	chr2:55258610..55260236-chr2:55264059..55265743,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559058913	chr2:55265602-55265603	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528074328	chr2:55265627-55265628	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200472333	chr2:55265628-55265629	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376177603	chr2:55265632-55265633	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370603418	chr2:55265634-55265635	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs34723780	chr2:55265635-55265636	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79749024	chr2:55265636-55265637	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548243905	chr2:55265652-55265653	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373342681	chr2:55265680-55265681	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568154018	chr2:55265687-55265688	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142778026	chr2:55265710-55265711	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2968787	chr2:55265785-55265786	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs560765843	chr2:55265794-55265795	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570638960	chr2:55265812-55265813	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79800073	chr2:55265824-55265825	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553208379	chr2:55265856-55265857	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572836378	chr2:55265932-55265933	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534687979	chr2:55265937-55265938	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147376387	chr2:55265993-55265994	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139494062	chr2:55265996-55265997	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543521356	chr2:55266027-55266028	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145007139	chr2:55266036-55266037	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144169225	chr2:55266066-55266067	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564959684	chr2:55266077-55266078	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148682255	chr2:55266106-55266107	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs377089827	chr2:55266123-55266124	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559982873	chr2:55266137-55266138	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528836966	chr2:55266158-55266159	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188996551	chr2:55266174-55266175	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561674797	chr2:55266175-55266176	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142169759	chr2:55266188-55266189	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181383290	chr2:55266210-55266211	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs570478047	chr2:55266233-55266234	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs576165150	chr2:55266242-55266243	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs546517948	chr2:55266346-55266347	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs566425165	chr2:55266442-55266443	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs535364225	chr2:55266453-55266454	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs186553824	chr2:55266471-55266472	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs563206693	chr2:55266476-55266477	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs151182498	chr2:55266497-55266498	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs568130834	chr2:55266520-55266521	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs537121928	chr2:55266563-55266564	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs140338345	chr2:55266579-55266580	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs554712462	chr2:55266590-55266591	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs532197007	chr2:55266594-55266595	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs577063643	chr2:55266651-55266652	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs189550721	chr2:55266656-55266657	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs144335326	chr2:55266657-55266658	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs77100089	chr2:55266671-55266672	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs10182203	chr2:55266695-55266696	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:76)

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
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
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:177 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55237600-55272600	Weak transcription	Fetal Stomach	stomach
2	chr2:55241000-55272400	Weak transcription	Fetal Kidney	kidney
3	chr2:55245600-55265600	Weak transcription	Stomach Mucosa	stomach
4	chr2:55250400-55271000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:55250400-55274000	Weak transcription	Pancreas	Pancrea
6	chr2:55253400-55273000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:55254200-55269800	Weak transcription	Aorta	Aorta
8	chr2:55254200-55270400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:55255400-55272600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:55255400-55272600	Weak transcription	Fetal Intestine Small	intestine
11	chr2:55256400-55266600	Weak transcription	Left Ventricle	heart
12	chr2:55256400-55270400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:55259000-55265600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:55259000-55267400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:55259000-55272800	Weak transcription	Small Intestine	intestine
16	chr2:55259200-55272800	Weak transcription	Fetal Heart	heart
17	chr2:55259400-55275200	Weak transcription	Esophagus	oesophagus
18	chr2:55260000-55265600	Weak transcription	NHEK	skin
19	chr2:55260800-55266000	Weak transcription	Adipose Nuclei	Adipose
20	chr2:55260800-55266200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:55260800-55266600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:55260800-55270400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr2:55260800-55271200	Weak transcription	Lung	lung
24	chr2:55260800-55271200	Weak transcription	Right Atrium	heart
25	chr2:55260800-55272000	Weak transcription	NH-A	brain
26	chr2:55260800-55272400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:55260800-55273200	Weak transcription	Psoas Muscle	Psoas
28	chr2:55261200-55273000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr2:55261400-55272800	Weak transcription	Thymus	Thymus
30	chr2:55261600-55265800	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr2:55261600-55266000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:55261600-55266000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr2:55261600-55266200	Weak transcription	Brain Angular Gyrus	brain
34	chr2:55261600-55266600	Weak transcription	Fetal Thymus	thymus
35	chr2:55261600-55269400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr2:55261600-55271200	Weak transcription	Ovary	ovary
37	chr2:55262000-55266600	ZNF genes & repeats	A549	lung
38	chr2:55262600-55270200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr2:55262800-55267600	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr2:55263000-55266000	Weak transcription	Hela-S3	cervix
41	chr2:55263800-55265600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:55263800-55266200	Genic enhancers	Muscle Satellite Cultured Cells	--
43	chr2:55263800-55266800	ZNF genes & repeats	GM12878-XiMat	blood
44	chr2:55263800-55267200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr2:55264000-55265600	Enhancers	HUVEC	blood vessel
46	chr2:55264000-55266200	Enhancers	HepG2	liver
47	chr2:55264200-55265600	Weak transcription	Primary T cells from cord blood	blood
48	chr2:55264200-55265800	Weak transcription	Fetal Muscle Leg	muscle
49	chr2:55264200-55267600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:55264400-55266200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast

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