Variant report

Variant	esv3401006
Chromosome Location	chr2:53967975-53968262
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	chr2:53967382..53969707-chr2:53992975..53994926,3	K562	blood:

Variant related genes	Relation type
ENSG00000115239	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374962533	chr2:53967980-53967981	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs537321100	chr2:53967982-53967983	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs551290819	chr2:53968006-53968007	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs3770396	chr2:53968007-53968008	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs187382319	chr2:53968012-53968013	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs6545364	chr2:53968037-53968038	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs553405589	chr2:53968045-53968046	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs573332604	chr2:53968095-53968096	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs79569433	chr2:53968105-53968106	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs563083480	chr2:53968116-53968117	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs192213273	chr2:53968158-53968159	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs532062611	chr2:53968176-53968177	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs543339539	chr2:53968187-53968188	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs551784178	chr2:53968189-53968190	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs369031391	chr2:53968233-53968234	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs556878451	chr2:53968234-53968235	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	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
Myelofibrosis	22110671	CNVD
Developmental delay	21147756	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53908600-53982200	Weak transcription	Small Intestine	intestine
2	chr2:53910000-53994000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:53910200-53990600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr2:53918400-53994000	Weak transcription	Fetal Heart	heart
5	chr2:53925400-53979400	Weak transcription	Psoas Muscle	Psoas
6	chr2:53936600-53968400	Weak transcription	Pancreas	Pancrea
7	chr2:53936600-53978600	Weak transcription	Hela-S3	cervix
8	chr2:53936800-53985400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr2:53937000-53983800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:53937000-53994400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:53937200-53978600	Weak transcription	NH-A	brain
12	chr2:53937200-53983600	Weak transcription	Right Ventricle	heart
13	chr2:53937200-53994200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr2:53937400-53979600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:53937400-53990200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr2:53937400-53994400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr2:53938000-53974800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr2:53938000-53974800	Weak transcription	Placenta	Placenta
19	chr2:53938200-53975200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr2:53938400-53969400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:53938400-53969600	Weak transcription	Esophagus	oesophagus
22	chr2:53938400-53975000	Weak transcription	Fetal Kidney	kidney
23	chr2:53938400-53982800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr2:53938400-53983400	Weak transcription	HSMMtube	muscle
25	chr2:53938400-53992400	Weak transcription	K562	blood
26	chr2:53938600-53972000	Weak transcription	HSMM	muscle
27	chr2:53941800-53974400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:53941800-53976400	Weak transcription	Colon Smooth Muscle	Colon
29	chr2:53943800-53974800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr2:53943800-53983600	Weak transcription	Ovary	ovary
31	chr2:53943800-53983600	Weak transcription	Thymus	Thymus
32	chr2:53943800-53983800	Weak transcription	Left Ventricle	heart
33	chr2:53944000-53974600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr2:53945800-53968400	Weak transcription	Brain Anterior Caudate	brain
35	chr2:53949800-53974200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr2:53952200-53978600	Weak transcription	Osteobl	bone
37	chr2:53952400-53983600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:53952600-53974800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:53954400-53972000	Weak transcription	NHDF-Ad	bronchial
40	chr2:53954800-53969600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr2:53954800-53982000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr2:53954800-53983800	Weak transcription	Lung	lung
43	chr2:53955800-53974600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr2:53956000-53979600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr2:53956000-53983400	Weak transcription	Fetal Brain Male	brain
46	chr2:53956200-53983000	Weak transcription	Fetal Muscle Leg	muscle
47	chr2:53956800-53968400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr2:53956800-53974600	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr2:53957000-53983800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:53957200-53968200	Weak transcription	Brain Hippocampus Middle	brain

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