Variant report

Variant	nsv580953
Chromosome Location	chr2:9927006-9928559
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	chr2:9924453..9926268-chr2:9927914..9930082,2	K562	blood:
2	chr2:9925610..9927951-chr2:9929865..9931540,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549417207	chr2:9927085-9927086	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs569267457	chr2:9927103-9927104	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs71389286	chr2:9927183-9927184	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs551579734	chr2:9927202-9927203	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs36036780	chr2:9927224-9927225	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs35093978	chr2:9927262-9927263	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs551389241	chr2:9927307-9927308	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs13005962	chr2:9927323-9927324	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs533872512	chr2:9927372-9927373	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs192431737	chr2:9927373-9927374	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs567405690	chr2:9927482-9927483	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs536069653	chr2:9927492-9927493	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs556193618	chr2:9927494-9927495	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs112567972	chr2:9927503-9927504	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs199849036	chr2:9927504-9927505	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs201335158	chr2:9927505-9927506	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs10186112	chr2:9927532-9927533	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs138200427	chr2:9927609-9927610	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs578248118	chr2:9927621-9927622	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs141247524	chr2:9927726-9927727	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs560625449	chr2:9927805-9927806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145010019	chr2:9927806-9927807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75389036	chr2:9927830-9927831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565720927	chr2:9927832-9927833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138848419	chr2:9927850-9927851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531744574	chr2:9927911-9927912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557690380	chr2:9927942-9927943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183583950	chr2:9928070-9928071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558590149	chr2:9928128-9928129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113378111	chr2:9928153-9928154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547251219	chr2:9928184-9928185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567467181	chr2:9928223-9928224	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536421016	chr2:9928224-9928225	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371864885	chr2:9928250-9928251	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538153581	chr2:9928262-9928263	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375272499	chr2:9928292-9928293	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149379545	chr2:9928308-9928309	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13395724	chr2:9928310-9928311	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574653695	chr2:9928318-9928319	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188025145	chr2:9928379-9928380	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144759925	chr2:9928394-9928395	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114938947	chr2:9928443-9928444	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540087587	chr2:9928549-9928550	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7565749	chr2:9928559-9928560	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	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
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	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
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Neuroblastoma	18923524	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9922600-9927200	Weak transcription	GM12878-XiMat	blood
2	chr2:9923600-9927200	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr2:9923600-9927200	Weak transcription	Fetal Thymus	thymus
4	chr2:9923600-9927400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr2:9925600-9927600	Enhancers	Fetal Intestine Large	intestine
6	chr2:9926800-9927400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:9926800-9927400	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr2:9926800-9927600	Active TSS	Osteobl	bone
9	chr2:9927000-9927200	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr2:9927000-9927200	Enhancers	Primary B cells from peripheral blood	blood
11	chr2:9927000-9927200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr2:9927000-9927200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:9927000-9927200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr2:9927000-9927200	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:9927000-9927200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:9927000-9927200	Flanking Active TSS	Fetal Intestine Small	intestine
17	chr2:9927000-9927400	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr2:9927000-9927400	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr2:9927000-9927400	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr2:9927000-9927400	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr2:9927000-9927400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:9927000-9927400	Active TSS	Primary hematopoietic stem cells	blood
23	chr2:9927000-9927400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr2:9927000-9927400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:9927000-9927400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:9927000-9927400	Enhancers	Adipose Nuclei	Adipose
27	chr2:9927000-9927400	Active TSS	Fetal Kidney	kidney
28	chr2:9927000-9927400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr2:9927000-9927400	Flanking Active TSS	Placenta	Placenta
30	chr2:9927000-9927400	Bivalent/Poised TSS	Fetal Stomach	stomach
31	chr2:9927000-9927400	Enhancers	Ovary	ovary
32	chr2:9927000-9927400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr2:9927000-9927600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr2:9927000-9927600	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr2:9927000-9927600	Active TSS	Primary T cells from cord blood	blood
36	chr2:9927000-9927600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
37	chr2:9927000-9927600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr2:9927000-9927600	Active TSS	Rectal Smooth Muscle	rectum
39	chr2:9927000-9927600	Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr2:9927000-9927800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:9927200-9927400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:9927200-9927400	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
43	chr2:9927200-9927400	Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr2:9927200-9927400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:9927200-9927400	Active TSS	Fetal Intestine Small	intestine
46	chr2:9927200-9927600	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr2:9927200-9927600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr2:9927200-9927600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr2:9927200-9927600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr2:9927200-9927600	Enhancers	Fetal Thymus	thymus

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