Variant report

Variant	nsv514052
Chromosome Location	chr2:11395366-11400290
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11394019..11396921-chr2:11397879..11400612,3	MCF-7	breast:
2	chr2:11394169..11396145-chr2:11484229..11486145,2	MCF-7	breast:
3	chr2:11378197..11380031-chr2:11396489..11398532,2	K562	blood:
4	chr2:11394019..11396921-chr2:11397879..11400612,3	MCF-7	breast:
5	chr2:11390471..11392521-chr2:11397410..11399091,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134318	chromatin interactions

Extended variants
information (count: 188 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:188 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202161115	chr2:11395386-11395387	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs140542310	chr2:11395448-11395449	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs377158711	chr2:11395506-11395507	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs369852867	chr2:11395579-11395580	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs541574981	chr2:11395676-11395677	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs560162592	chr2:11395762-11395763	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs115247708	chr2:11395768-11395769	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs552484034	chr2:11395774-11395775	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs191612363	chr2:11395775-11395776	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs531529692	chr2:11395804-11395805	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs140929789	chr2:11395821-11395822	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs181694506	chr2:11395844-11395845	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs535917439	chr2:11395875-11395876	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs13420123	chr2:11395928-11395929	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs372796373	chr2:11395939-11395940	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs185902061	chr2:11395941-11395942	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs538318107	chr2:11395972-11395973	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs79367875	chr2:11396034-11396035	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs201461611	chr2:11396041-11396042	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs57678031	chr2:11396079-11396080	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs539491419	chr2:11396087-11396088	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs558027571	chr2:11396096-11396097	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs6721445	chr2:11396108-11396109	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs537353934	chr2:11396175-11396176	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs202127070	chr2:11396231-11396232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576501302	chr2:11396339-11396340	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372742947	chr2:11396351-11396352	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13382846	chr2:11396388-11396389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574173153	chr2:11396403-11396404	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190705466	chr2:11396414-11396415	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560323249	chr2:11396433-11396434	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78138429	chr2:11396439-11396440	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs80299063	chr2:11396440-11396441	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564072300	chr2:11396552-11396553	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531590940	chr2:11396590-11396591	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549821534	chr2:11396595-11396596	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561901123	chr2:11396665-11396666	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529112956	chr2:11396731-11396732	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552023903	chr2:11396765-11396766	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547478820	chr2:11396796-11396797	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs75723624	chr2:11396800-11396801	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577053994	chr2:11396823-11396824	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539549519	chr2:11396849-11396850	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115052030	chr2:11396854-11396855	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569732070	chr2:11396860-11396861	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369428339	chr2:11397007-11397008	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs35500262	chr2:11397009-11397010	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs74899496	chr2:11397046-11397047	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537723166	chr2:11397047-11397048	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190711785	chr2:11397100-11397101	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:189 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11296200-11412600	Weak transcription	Aorta	Aorta
2	chr2:11310600-11433000	Weak transcription	Pancreas	Pancrea
3	chr2:11352600-11411200	Weak transcription	Thymus	Thymus
4	chr2:11352800-11424000	Weak transcription	HSMMtube	muscle
5	chr2:11354600-11423800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:11360400-11396400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:11361000-11397000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:11361000-11397400	Weak transcription	Left Ventricle	heart
9	chr2:11361000-11399200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr2:11361000-11400200	Weak transcription	Gastric	stomach
11	chr2:11361000-11410800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr2:11361000-11411200	Weak transcription	Fetal Thymus	thymus
13	chr2:11361000-11416600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr2:11361200-11425600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr2:11361600-11396800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:11364400-11423800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:11364800-11397400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr2:11366400-11396800	Weak transcription	Fetal Muscle Leg	muscle
19	chr2:11372600-11397200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:11372600-11423800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:11376200-11410800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:11376800-11399000	Weak transcription	Brain Anterior Caudate	brain
23	chr2:11378800-11428600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:11379800-11397000	Weak transcription	GM12878-XiMat	blood
25	chr2:11380000-11396400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr2:11380400-11397400	Weak transcription	Right Atrium	heart
27	chr2:11382800-11410200	Weak transcription	Primary B cells from cord blood	blood
28	chr2:11383000-11424000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:11383200-11397200	Weak transcription	Lung	lung
30	chr2:11383200-11397400	Weak transcription	Esophagus	oesophagus
31	chr2:11383200-11409800	Weak transcription	Primary T cells from cord blood	blood
32	chr2:11383400-11410400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr2:11385000-11411000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:11386400-11398200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr2:11387400-11397400	Weak transcription	Dnd41	blood
36	chr2:11387800-11417400	Weak transcription	Placenta	Placenta
37	chr2:11388400-11397000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:11388400-11401000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:11388600-11396400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr2:11388600-11406400	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr2:11388600-11411200	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr2:11388800-11396400	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr2:11389000-11396400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:11389200-11396200	Weak transcription	Fetal Stomach	stomach
45	chr2:11389600-11411000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:11389800-11396400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr2:11389800-11396800	Weak transcription	HSMM	muscle
48	chr2:11389800-11397200	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr2:11389800-11397200	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr2:11389800-11399000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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