Variant report

Variant	nsv524821
Chromosome Location	chr2:234933630-234944043
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: 427 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:427 , 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	rs676546	chr2:234933630-234933631	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186479273	chr2:234933643-234933644	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs368325303	chr2:234933649-234933650	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs191129106	chr2:234933651-234933652	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs146344159	chr2:234933656-234933657	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs562303187	chr2:234933660-234933661	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs182831022	chr2:234933662-234933663	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs548055776	chr2:234933691-234933692	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs188402977	chr2:234933761-234933762	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs118158208	chr2:234933830-234933831	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs371644308	chr2:234933842-234933843	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs192862237	chr2:234933903-234933904	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs537306536	chr2:234933958-234933959	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs201517484	chr2:234933975-234933976	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs34663334	chr2:234933977-234933978	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs675133	chr2:234933978-234933979	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs13429663	chr2:234933979-234933980	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs397706868	chr2:234933989-234933990	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs35704008	chr2:234933990-234933991	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs375127290	chr2:234933991-234933992	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs56965933	chr2:234933998-234933999	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs184718413	chr2:234934004-234934005	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs555629437	chr2:234934026-234934027	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs568225805	chr2:234934044-234934045	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs668355	chr2:234934045-234934046	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs664373	chr2:234934060-234934061	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs79535235	chr2:234934085-234934086	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs557135867	chr2:234934098-234934099	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs187852534	chr2:234934131-234934132	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs192379070	chr2:234934172-234934173	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs663924	chr2:234934186-234934187	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs541884502	chr2:234934199-234934200	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs561662692	chr2:234934210-234934211	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs527398547	chr2:234934235-234934236	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs541240416	chr2:234934245-234934246	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs564708617	chr2:234934297-234934298	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs112992204	chr2:234934309-234934310	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs550102469	chr2:234934318-234934319	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs568586304	chr2:234934319-234934320	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs529278068	chr2:234934380-234934381	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs549442164	chr2:234934456-234934457	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	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
43	rs528758310	chr2:234934559-234934560	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs374916335	chr2:234934565-234934566	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs111811215	chr2:234934567-234934568	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs537417152	chr2:234934577-234934578	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
47	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
48	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
49	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
50	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

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:286 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234931800-234934000	Enhancers	Primary T cells fromperipheralblood	blood
2	chr2:234931800-234938200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:234933000-234934000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:234933000-234934200	Enhancers	Fetal Brain Male	brain
5	chr2:234933000-234934800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:234933000-234935600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:234933200-234933800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:234933200-234933800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:234933200-234934400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:234933400-234933800	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr2:234933400-234933800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr2:234933400-234933800	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr2:234933400-234934000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:234933400-234934000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr2:234933400-234934000	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr2:234933600-234933800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:234933600-234934000	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr2:234933600-234934000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr2:234933600-234934000	Enhancers	Liver	Liver
20	chr2:234933600-234934000	Enhancers	Fetal Brain Female	brain
21	chr2:234933600-234934200	Flanking Active TSS	NHEK	skin
22	chr2:234933600-234934400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:234933600-234935200	Enhancers	Primary B cells from peripheral blood	blood
24	chr2:234933600-234936800	Enhancers	Primary T cells from cord blood	blood
25	chr2:234933600-234937200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:234933800-234934000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr2:234933800-234934000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:234933800-234934000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:234933800-234934000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:234933800-234934000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:234933800-234934000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:234933800-234934000	Enhancers	Brain Hippocampus Middle	brain
33	chr2:234933800-234934000	Enhancers	Thymus	Thymus
34	chr2:234933800-234934000	Enhancers	NHLF	lung
35	chr2:234933800-234934200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:234933800-234934200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr2:234933800-234934200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr2:234933800-234934200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr2:234933800-234934400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr2:234933800-234934800	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr2:234933800-234934800	Enhancers	GM12878-XiMat	blood
42	chr2:234933800-234935000	Enhancers	Primary B cells from cord blood	blood
43	chr2:234934000-234934200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
44	chr2:234934000-234934200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr2:234934000-234934200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr2:234934000-234934200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr2:234934000-234934200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:234934000-234934200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr2:234934000-234934200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr2:234934000-234934200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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