Variant report

Variant	nsv961381
Chromosome Location	chr2:11448178-11449578
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11446328..11449302-chr2:11482839..11485533,2	MCF-7	breast:
2	chr2:11422735..11425372-chr2:11448792..11450664,2	MCF-7	breast:
3	chr2:11449416..11451875-chr2:11454672..11457949,3	K562	blood:

Variant related genes	Relation type
ENSG00000134318	chromatin interactions

Extended variants
information (count: 53 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575933386	chr2:11448210-11448211	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs543745791	chr2:11448211-11448212	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs561825867	chr2:11448222-11448223	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs113899161	chr2:11448232-11448233	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs375253517	chr2:11448285-11448286	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs187274599	chr2:11448302-11448303	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs6713273	chr2:11448334-11448335	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs112962464	chr2:11448343-11448344	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs368029573	chr2:11448388-11448389	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs376909928	chr2:11448408-11448409	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs570114411	chr2:11448436-11448437	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs530804669	chr2:11448493-11448494	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs549687447	chr2:11448587-11448588	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs190554194	chr2:11448629-11448630	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs180720680	chr2:11448732-11448733	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs553116987	chr2:11448749-11448750	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs548607600	chr2:11448767-11448768	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs565448870	chr2:11448788-11448789	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs539100736	chr2:11448798-11448799	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs557426919	chr2:11448808-11448809	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs575670742	chr2:11448809-11448810	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs543035106	chr2:11448833-11448834	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs555661052	chr2:11448839-11448840	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs573823639	chr2:11448904-11448905	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs371448787	chr2:11448911-11448912	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs541234549	chr2:11448923-11448924	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs200030544	chr2:11448958-11448959	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs559546204	chr2:11448970-11448971	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs185335054	chr2:11448989-11448990	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs545562233	chr2:11449014-11449015	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs563758220	chr2:11449032-11449033	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs530966639	chr2:11449133-11449134	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs147649220	chr2:11449139-11449140	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs549079849	chr2:11449171-11449172	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs567964706	chr2:11449178-11449179	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs72789523	chr2:11449190-11449191	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs546794526	chr2:11449202-11449203	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs571554118	chr2:11449207-11449208	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs72789524	chr2:11449220-11449221	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs56053754	chr2:11449231-11449232	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs551094788	chr2:11449281-11449282	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs34609303	chr2:11449307-11449308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs397701064	chr2:11449320-11449321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569628123	chr2:11449371-11449372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537069973	chr2:11449383-11449384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548589821	chr2:11449387-11449388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142259150	chr2:11449431-11449432	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190145170	chr2:11449500-11449501	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538434886	chr2:11449513-11449514	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs558287626	chr2:11449522-11449523	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Esophageal adenocarcinoma	18519675	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11424800-11455200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:11439200-11453000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:11443800-11449400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:11444000-11449800	Weak transcription	Aorta	Aorta
5	chr2:11444000-11458600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:11444800-11454600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:11445000-11465200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:11445200-11450200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr2:11445400-11460200	Weak transcription	Left Ventricle	heart
10	chr2:11445800-11448800	Weak transcription	NHEK	skin
11	chr2:11445800-11449800	Weak transcription	Lung	lung
12	chr2:11446000-11448400	Enhancers	HepG2	liver
13	chr2:11446000-11448800	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr2:11446200-11453200	Weak transcription	K562	blood
15	chr2:11446800-11448200	Enhancers	Psoas Muscle	Psoas
16	chr2:11446800-11449800	Weak transcription	HMEC	breast
17	chr2:11447000-11449800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:11447000-11449800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:11447000-11449800	Weak transcription	Adipose Nuclei	Adipose
20	chr2:11447000-11449800	Weak transcription	Fetal Intestine Small	intestine
21	chr2:11447000-11450200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr2:11447000-11450400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:11447000-11450600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:11447000-11450600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr2:11447000-11451400	Weak transcription	Small Intestine	intestine
26	chr2:11447000-11454400	Weak transcription	Fetal Heart	heart
27	chr2:11447000-11456000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:11447000-11459800	Weak transcription	Fetal Kidney	kidney
29	chr2:11447000-11460000	Weak transcription	Ovary	ovary
30	chr2:11447000-11460200	Weak transcription	Fetal Lung	lung
31	chr2:11447200-11449800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:11447200-11449800	Weak transcription	Liver	Liver
33	chr2:11447200-11449800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr2:11447200-11449800	Weak transcription	Osteobl	bone
35	chr2:11447200-11450200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:11447200-11450200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr2:11447200-11450800	Weak transcription	A549	lung
38	chr2:11447200-11451000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:11447200-11451000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr2:11447200-11452600	Weak transcription	Fetal Stomach	stomach
41	chr2:11447200-11454400	Weak transcription	HSMM	muscle
42	chr2:11447200-11454600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr2:11447200-11456000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr2:11447200-11466200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr2:11447400-11450200	Weak transcription	NHLF	lung
46	chr2:11447400-11450400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:11447400-11451400	Weak transcription	Colon Smooth Muscle	Colon
48	chr2:11447600-11449800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr2:11447600-11449800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr2:11447800-11450800	Enhancers	Primary neutrophils fromperipheralblood	blood

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