Variant report

Variant	nsv873779
Chromosome Location	chr2:32330885-32372245
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:32365815..32368775-chr2:32370522..32372496,2	K562	blood:
2	chr2:32347290..32350052-chr2:32351484..32354177,3	K562	blood:
3	chr2:32347290..32350052-chr2:32351484..32354177,3	K562	blood:
4	chr2:32317095..32319080-chr2:32338095..32340081,2	K562	blood:
5	chr2:32365815..32368775-chr2:32370522..32372496,2	K562	blood:
6	chr2:32368107..32369829-chr2:32378343..32381333,2	K562	blood:
7	chr2:32288316..32289452-chr2:32360147..32361103,4	MCF-7	breast:
8	chr2:32347290..32350643-chr2:32351484..32354177,5	K562	blood:
9	chr2:32351379..32353037-chr2:32389504..32392021,2	K562	blood:
10	chr2:32113177..32115838-chr2:32349330..32352082,2	K562	blood:
11	chr2:32338831..32341439-chr2:32391344..32393556,2	K562	blood:
12	chr2:32367367..32371154-chr2:32378343..32385071,6	K562	blood:
13	chr2:32349609..32353037-chr2:32390063..32392021,3	K562	blood:
14	chr2:32368464..32370560-chr2:32386203..32388440,2	K562	blood:
15	chr2:32360874..32363843-chr2:32386760..32389149,2	K562	blood:
16	chr2:32372239..32374198-chr2:32394451..32396644,2	K562	blood:
17	chr2:32288578..32291293-chr2:32359432..32361244,2	MCF-7	breast:
18	chr2:32370490..32374937-chr2:32388646..32392345,4	K562	blood:
19	chr2:32351514..32353019-chr2:32390044..32392430,2	MCF-7	breast:
20	chr2:32362766..32364698-chr2:32390702..32392991,2	K562	blood:
21	chr2:32347290..32350643-chr2:32351484..32354177,5	K562	blood:
22	chr2:32362664..32364966-chr2:32389638..32391617,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000152683	chromatin interactions
ENSG00000021574	chromatin interactions
ENSG00000272716	chromatin interactions

Extended variants
information (count: 1731 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1731 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6725184	chr2:32330885-32330886	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs539734374	chr2:32330900-32330901	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182753816	chr2:32330926-32330927	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534220599	chr2:32330928-32330929	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557775621	chr2:32330930-32330931	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547713807	chr2:32330938-32330939	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112424537	chr2:32330941-32330942	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536467031	chr2:32330946-32330947	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188167793	chr2:32331005-32331006	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576487335	chr2:32331010-32331011	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374675162	chr2:32331012-32331013	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538794753	chr2:32331059-32331060	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558906469	chr2:32331113-32331114	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139864286	chr2:32331178-32331179	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191313566	chr2:32331227-32331228	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs367718047	chr2:32331231-32331232	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143421147	chr2:32331240-32331241	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556861589	chr2:32331243-32331244	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542847428	chr2:32331259-32331260	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs117984171	chr2:32331307-32331308	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374114049	chr2:32331308-32331309	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551235302	chr2:32331330-32331331	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183315388	chr2:32331332-32331333	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113071374	chr2:32331341-32331342	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188253597	chr2:32331360-32331361	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575348803	chr2:32331373-32331374	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115707897	chr2:32331431-32331432	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536405269	chr2:32331457-32331458	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115648976	chr2:32331473-32331474	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570199625	chr2:32331482-32331483	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539099699	chr2:32331490-32331491	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192202221	chr2:32331496-32331497	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184886042	chr2:32331500-32331501	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188089019	chr2:32331506-32331507	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11676456	chr2:32331511-32331512	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs554062290	chr2:32331514-32331515	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572858888	chr2:32331538-32331539	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148910288	chr2:32331544-32331545	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556321222	chr2:32331547-32331548	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576187602	chr2:32331586-32331587	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115016113	chr2:32331588-32331589	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564846277	chr2:32331597-32331598	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527268933	chr2:32331625-32331626	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540630867	chr2:32331643-32331644	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191349923	chr2:32331665-32331666	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113049398	chr2:32331717-32331718	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372090578	chr2:32331745-32331746	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550233089	chr2:32331759-32331760	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79229454	chr2:32331765-32331766	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532611219	chr2:32331772-32331773	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Neurocytoma	17123091	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1014 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32290400-32331000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr2:32290400-32353400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr2:32291000-32332600	Weak transcription	A549	lung
4	chr2:32291400-32331000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:32291600-32332200	Weak transcription	HUVEC	blood vessel
6	chr2:32292000-32343200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:32292600-32353800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:32295800-32353800	Weak transcription	Fetal Brain Male	brain
9	chr2:32296400-32362600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr2:32297600-32360600	Weak transcription	Osteobl	bone
11	chr2:32298800-32341400	Weak transcription	Small Intestine	intestine
12	chr2:32300000-32339600	Weak transcription	HepG2	liver
13	chr2:32309800-32381200	Weak transcription	NHDF-Ad	bronchial
14	chr2:32311800-32331000	Weak transcription	Gastric	stomach
15	chr2:32312600-32331000	Weak transcription	Colonic Mucosa	Colon
16	chr2:32313200-32360600	Weak transcription	NH-A	brain
17	chr2:32315400-32331000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr2:32316000-32353600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr2:32316200-32331200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:32316200-32343200	Weak transcription	HSMM	muscle
21	chr2:32317600-32331000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:32319800-32331000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr2:32322200-32353400	Weak transcription	K562	blood
24	chr2:32325400-32353800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr2:32326000-32352200	Weak transcription	HSMMtube	muscle
26	chr2:32329400-32331000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr2:32329600-32331000	Strong transcription	Fetal Muscle Leg	muscle
28	chr2:32329600-32333000	Strong transcription	Primary T cells from cord blood	blood
29	chr2:32330200-32331000	Strong transcription	Fetal Intestine Large	intestine
30	chr2:32330200-32331000	ZNF genes & repeats	Fetal Lung	lung
31	chr2:32330200-32331600	ZNF genes & repeats	Ovary	ovary
32	chr2:32330200-32332000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:32330200-32332200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
34	chr2:32330200-32332400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
35	chr2:32330200-32332600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr2:32330200-32333000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:32330200-32333000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:32330200-32333000	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr2:32330200-32333200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
40	chr2:32330200-32333200	Strong transcription	Liver	Liver
41	chr2:32330200-32333400	Strong transcription	Stomach Smooth Muscle	stomach
42	chr2:32330200-32333600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:32330200-32333600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:32330200-32334000	Strong transcription	Fetal Thymus	thymus
45	chr2:32330400-32331000	Strong transcription	Brain Hippocampus Middle	brain
46	chr2:32330400-32331200	Strong transcription	Duodenum Mucosa	Duodenum
47	chr2:32330400-32331600	Strong transcription	Brain Anterior Caudate	brain
48	chr2:32330400-32332200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr2:32330400-32332200	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr2:32330400-32332400	Strong transcription	Primary T cells fromperipheralblood	blood

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