Variant report

Variant	esv3448154
Chromosome Location	chr2:231306014-231306599
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:231299092..231300895-chr2:231303797..231306064,2	K562	blood:
2	chr2:231281967..231284273-chr2:231304753..231307439,2	K562	blood:
3	chr2:231299092..231301889-chr2:231304564..231307133,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191883605	chr2:231306042-231306043	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7579070	chr2:231306061-231306062	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs11688912	chr2:231306073-231306074	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs115402547	chr2:231306090-231306091	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562943063	chr2:231306188-231306189	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184066745	chr2:231306207-231306208	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs188409751	chr2:231306211-231306212	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs147307213	chr2:231306233-231306234	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs565988347	chr2:231306251-231306252	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs534761256	chr2:231306268-231306269	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs139225965	chr2:231306292-231306293	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs576362498	chr2:231306323-231306324	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs556058084	chr2:231306360-231306361	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs113342092	chr2:231306385-231306386	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs74588798	chr2:231306407-231306408	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs575707301	chr2:231306412-231306413	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs73095039	chr2:231306463-231306464	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs554543934	chr2:231306468-231306469	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs572895875	chr2:231306474-231306475	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs114926883	chr2:231306489-231306490	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs562286454	chr2:231306502-231306503	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs532623003	chr2:231306571-231306572	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs199780709	chr2:231306574-231306575	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
prenatal diagnosis	22389664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231283600-231309200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:231284600-231306200	Weak transcription	HMEC	breast
3	chr2:231288800-231319000	Weak transcription	Fetal Kidney	kidney
4	chr2:231288800-231356000	Weak transcription	Stomach Mucosa	stomach
5	chr2:231289000-231309200	Weak transcription	Aorta	Aorta
6	chr2:231294200-231309600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:231294200-231311600	Weak transcription	Colon Smooth Muscle	Colon
8	chr2:231295200-231309200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr2:231295400-231306400	Weak transcription	HSMM	muscle
10	chr2:231295800-231307800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:231295800-231309000	Weak transcription	Small Intestine	intestine
12	chr2:231296000-231309400	Weak transcription	Colonic Mucosa	Colon
13	chr2:231296000-231310400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:231296200-231308400	Weak transcription	Gastric	stomach
15	chr2:231296200-231309200	Weak transcription	Fetal Stomach	stomach
16	chr2:231296200-231309200	Weak transcription	Spleen	Spleen
17	chr2:231296400-231307600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:231299600-231308200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:231301400-231306200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr2:231301400-231307600	Weak transcription	Fetal Muscle Leg	muscle
21	chr2:231301400-231307600	Weak transcription	Fetal Thymus	thymus
22	chr2:231301400-231307600	Weak transcription	Left Ventricle	heart
23	chr2:231301400-231307800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:231301400-231308400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr2:231301400-231309200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:231301400-231309200	Weak transcription	Lung	lung
27	chr2:231301400-231309200	Weak transcription	Ovary	ovary
28	chr2:231301400-231309200	Weak transcription	Pancreas	Pancrea
29	chr2:231301400-231314400	Weak transcription	Psoas Muscle	Psoas
30	chr2:231301600-231307600	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr2:231301800-231307400	Weak transcription	Liver	Liver
32	chr2:231301800-231307600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr2:231301800-231307600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr2:231301800-231307600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr2:231301800-231307800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr2:231301800-231308000	Weak transcription	Placenta	Placenta
37	chr2:231301800-231309200	Weak transcription	Fetal Lung	lung
38	chr2:231301800-231312000	Weak transcription	HepG2	liver
39	chr2:231301800-231345000	Weak transcription	A549	lung
40	chr2:231302600-231307400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr2:231302600-231308000	Weak transcription	Fetal Intestine Small	intestine
42	chr2:231303200-231317200	Genic enhancers	Primary B cells from peripheral blood	blood
43	chr2:231303600-231306200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr2:231303600-231306400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:231303600-231307800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr2:231303800-231306200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr2:231303800-231307600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:231303800-231307800	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr2:231304000-231306200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:231304000-231306200	Enhancers	Primary hematopoietic stem cells	blood

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