Variant report

Variant	nsv584711
Chromosome Location	chr2:234934186-234945105
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	chr2:234939882..234942126-chr2:234943177..234946167,2	K562	blood:
2	chr2:234939882..234942126-chr2:234943177..234946167,2	K562	blood:

Extended variants
information (count: 447 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:447 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs663924	chr2:234934186-234934187	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs541884502	chr2:234934199-234934200	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs561662692	chr2:234934210-234934211	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs527398547	chr2:234934235-234934236	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs541240416	chr2:234934245-234934246	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs564708617	chr2:234934297-234934298	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs112992204	chr2:234934309-234934310	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs550102469	chr2:234934318-234934319	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs568586304	chr2:234934319-234934320	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs529278068	chr2:234934380-234934381	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs549442164	chr2:234934456-234934457	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs11679031	chr2:234934461-234934462	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs528758310	chr2:234934559-234934560	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs374916335	chr2:234934565-234934566	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs111811215	chr2:234934567-234934568	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs537417152	chr2:234934577-234934578	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs189058840	chr2:234934636-234934637	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs139601452	chr2:234934729-234934730	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs369307901	chr2:234934732-234934733	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs375517777	chr2:234934739-234934740	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs545335183	chr2:234934807-234934808	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs557108455	chr2:234934848-234934849	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs576090930	chr2:234934851-234934852	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs17874960	chr2:234934860-234934861	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs28903968	chr2:234934901-234934902	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs192740754	chr2:234934908-234934909	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs17869085	chr2:234934946-234934947	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs564330178	chr2:234934948-234934949	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs533395503	chr2:234935053-234935054	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs17864789	chr2:234935152-234935153	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs11563198	chr2:234935202-234935203	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs529611644	chr2:234935216-234935217	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs397697766	chr2:234935284-234935285	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs17866601	chr2:234935285-234935286	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs6707645	chr2:234935320-234935321	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs184675084	chr2:234935329-234935330	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs112174778	chr2:234935344-234935345	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs570635850	chr2:234935364-234935365	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs140473049	chr2:234935439-234935440	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs377585703	chr2:234935442-234935443	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs541372447	chr2:234935461-234935462	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs539676896	chr2:234935476-234935477	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs559488586	chr2:234935492-234935493	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs550014436	chr2:234935542-234935543	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs569939758	chr2:234935564-234935565	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs140001481	chr2:234935612-234935613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555024831	chr2:234935669-234935670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs17866602	chr2:234935673-234935674	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs534416635	chr2:234935683-234935684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557459550	chr2:234935688-234935689	Weak transcription Enhancers	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
Esophageal adenocarcinoma	18519675	CNVD
Wilms tumour	21544195	CNVD
prenatal diagnosis	22389664	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
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234931800-234938200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:234933000-234934200	Enhancers	Fetal Brain Male	brain
3	chr2:234933000-234934800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:234933000-234935600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:234933200-234934400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:234933600-234934200	Flanking Active TSS	NHEK	skin
7	chr2:234933600-234934400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:234933600-234935200	Enhancers	Primary B cells from peripheral blood	blood
9	chr2:234933600-234936800	Enhancers	Primary T cells from cord blood	blood
10	chr2:234933600-234937200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:234933800-234934200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:234933800-234934200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr2:234933800-234934200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
14	chr2:234933800-234934200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr2:234933800-234934400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr2:234933800-234934800	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr2:234933800-234934800	Enhancers	GM12878-XiMat	blood
18	chr2:234933800-234935000	Enhancers	Primary B cells from cord blood	blood
19	chr2:234934000-234934200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
20	chr2:234934000-234934200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
21	chr2:234934000-234934200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr2:234934000-234934200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr2:234934000-234934200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:234934000-234934200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr2:234934000-234934200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr2:234934000-234934200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:234934000-234934200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:234934000-234934200	Flanking Active TSS	Fetal Brain Female	brain
29	chr2:234934000-234934200	Flanking Active TSS	Thymus	Thymus
30	chr2:234934000-234934200	Flanking Active TSS	HMEC	breast
31	chr2:234934000-234934200	Flanking Active TSS	NH-A	brain
32	chr2:234934000-234934200	Flanking Active TSS	NHLF	lung
33	chr2:234934000-234934400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:234934000-234934400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:234934000-234934400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:234934000-234934400	Active TSS	Osteobl	bone
37	chr2:234934000-234934600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:234934000-234934600	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr2:234934000-234934600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:234934000-234934600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:234934000-234934600	Active TSS	Liver	Liver
42	chr2:234934000-234934600	Active TSS	Brain Cingulate Gyrus	brain
43	chr2:234934000-234934600	Active TSS	Brain Hippocampus Middle	brain
44	chr2:234934000-234934600	Active TSS	Brain Substantia Nigra	brain
45	chr2:234934000-234934600	Active TSS	Fetal Kidney	kidney
46	chr2:234934000-234934600	Active TSS	NHDF-Ad	bronchial
47	chr2:234934000-234934800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:234934000-234934800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:234934000-234934800	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr2:234934000-234934800	Active TSS	Duodenum Mucosa	Duodenum

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