Variant report

Variant	nsv459507
Chromosome Location	chr2:141130097-141170340
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	chr2:141154130..141156710-chr2:141158652..141160326,2	MCF-7	breast:
2	chr2:141154130..141156710-chr2:141158652..141160326,2	MCF-7	breast:

Extended variants
information (count: 1131 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1131 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546614402	chr2:141131604-141131605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191084590	chr2:141131642-141131643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533611951	chr2:141131674-141131675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546863259	chr2:141131711-141131712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1968910	chr2:141131740-141131741	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs150105379	chr2:141131810-141131811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549013400	chr2:141131816-141131817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs58882761	chr2:141131864-141131865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138466891	chr2:141131903-141131904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550683146	chr2:141131951-141131952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537440522	chr2:141131953-141131954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558074017	chr2:141131959-141131960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571436138	chr2:141131961-141131962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77606084	chr2:141131968-141131969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550946393	chr2:141132062-141132063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7586024	chr2:141132080-141132081	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs183795738	chr2:141132128-141132129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555342013	chr2:141132137-141132138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149232585	chr2:141132172-141132173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558493671	chr2:141132173-141132174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544269187	chr2:141132193-141132194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564833004	chr2:141132360-141132361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573444547	chr2:141132406-141132407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs17477890	chr2:141132413-141132414	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs540843126	chr2:141132414-141132415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555759344	chr2:141132432-141132433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560634026	chr2:141132452-141132453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145292513	chr2:141132540-141132541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549146311	chr2:141132545-141132546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555035716	chr2:141132560-141132561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568963435	chr2:141132572-141132573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188795400	chr2:141132582-141132583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551069433	chr2:141132583-141132584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs386651163	chr2:141132594-141132595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs684762	chr2:141132595-141132596	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs138118944	chr2:141132604-141132605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567078090	chr2:141132649-141132650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192934958	chr2:141132675-141132676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183560999	chr2:141132687-141132688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13403311	chr2:141132696-141132697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575631419	chr2:141132741-141132742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201441265	chr2:141132742-141132743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199886907	chr2:141132743-141132744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544621651	chr2:141132754-141132755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539564201	chr2:141132770-141132771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568249635	chr2:141132776-141132777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562614938	chr2:141132795-141132796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114078557	chr2:141132800-141132801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs578208767	chr2:141132852-141132853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35264062	chr2:141132853-141132854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	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
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141131600-141131800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:141131800-141132400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr2:141132200-141132600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:141132400-141134200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:141132600-141132800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:141132800-141133800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:141133200-141143200	Weak transcription	Brain Substantia Nigra	brain
8	chr2:141134000-141134600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:141134200-141134400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:141134200-141134600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr2:141134600-141135000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:141135000-141142600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:141140200-141141200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:141141000-141141800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:141141200-141141600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:141141200-141142000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:141141600-141141800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:141141800-141142000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:141142600-141142800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:141142800-141151800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:141143200-141143400	Enhancers	Brain Substantia Nigra	brain
22	chr2:141148000-141150600	Enhancers	A549	lung
23	chr2:141149400-141150400	Enhancers	Fetal Intestine Large	intestine
24	chr2:141149400-141150800	Enhancers	HepG2	liver
25	chr2:141149600-141150000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr2:141149600-141150000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr2:141149600-141150800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:141150400-141151800	Weak transcription	Fetal Intestine Large	intestine
29	chr2:141150800-141152800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:141151800-141152200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:141151800-141152200	Enhancers	Fetal Intestine Large	intestine
32	chr2:141152000-141153000	Enhancers	Fetal Intestine Small	intestine
33	chr2:141152200-141153000	Weak transcription	Fetal Intestine Large	intestine
34	chr2:141152200-141157600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:141152800-141153400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:141153000-141153200	Enhancers	Fetal Intestine Large	intestine
37	chr2:141153200-141159000	Weak transcription	Fetal Intestine Large	intestine
38	chr2:141157600-141159400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:141159000-141159800	Enhancers	Fetal Intestine Large	intestine

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