Variant report

Variant	nsv875243
Chromosome Location	chr2:142219033-142259592
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:142259034..142262033-chr2:142268324..142270584,3	MCF-7	breast:
2	chr2:142152511..142154867-chr2:142224989..142226849,2	MCF-7	breast:
3	chr2:142219246..142221471-chr2:142222872..142224953,3	MCF-7	breast:
4	chr2:142229576..142232084-chr2:142232703..142234268,2	MCF-7	breast:
5	chr2:142219246..142221471-chr2:142222872..142224953,3	MCF-7	breast:
6	chr2:142224514..142226282-chr2:142227850..142230425,2	MCF-7	breast:
7	chr2:142217841..142219887-chr2:142221118..142223354,2	K562	blood:
8	chr2:142225007..142227143-chr2:142273674..142276575,2	MCF-7	breast:
9	chr2:142217841..142219887-chr2:142221118..142223354,2	K562	blood:
10	chr2:142223846..142226689-chr2:142887518..142889461,2	MCF-7	breast:
11	chr2:142257639..142260616-chr2:142261708..142263676,2	MCF-7	breast:
12	chr2:142259500..142260427-chr2:142322823..142323400,2	MCF-7	breast:
13	chr2:142248367..142251172-chr2:142262537..142266743,4	MCF-7	breast:
14	chr2:142224840..142226819-chr2:142260426..142263186,2	MCF-7	breast:
15	chr2:142241833..142244486-chr2:142265674..142268047,2	MCF-7	breast:
16	chr2:142223533..142226548-chr2:142266133..142269163,3	MCF-7	breast:
17	chr2:142229576..142232084-chr2:142232703..142234268,2	MCF-7	breast:
18	chr2:142224514..142226282-chr2:142227850..142230425,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000168702	chromatin interactions

Extended variants
information (count: 1746 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1746 , 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	rs3884569	chr2:142220631-142220632	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs35866659	chr2:142220635-142220636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs151026515	chr2:142220637-142220638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565623931	chr2:142220645-142220646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs72989021	chr2:142220696-142220697	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs547670546	chr2:142220728-142220729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs4605311	chr2:142220735-142220736	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs536556117	chr2:142220815-142220816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556865124	chr2:142220825-142220826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143875241	chr2:142220830-142220831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184352743	chr2:142220866-142220867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538768970	chr2:142220924-142220925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559126452	chr2:142220925-142220926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572436610	chr2:142220963-142220964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541264821	chr2:142220997-142220998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539074711	chr2:142221625-142221626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189450877	chr2:142221640-142221641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs13022705	chr2:142221658-142221659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534817001	chr2:142221731-142221732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555012897	chr2:142221771-142221772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs62168037	chr2:142221773-142221774	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs536827872	chr2:142221787-142221788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556878521	chr2:142221817-142221818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112074879	chr2:142221823-142221824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554208554	chr2:142221878-142221879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559095920	chr2:142221903-142221904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572766046	chr2:142221916-142221917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575741077	chr2:142221954-142221955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72989023	chr2:142221957-142221958	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs551859434	chr2:142221989-142221990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561802007	chr2:142221996-142221997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542966752	chr2:142222059-142222060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111663470	chr2:142222075-142222076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111313182	chr2:142222106-142222107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576798925	chr2:142222112-142222113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564016987	chr2:142222129-142222130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181218745	chr2:142222155-142222156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199589153	chr2:142222167-142222168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200633065	chr2:142222169-142222170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185715131	chr2:142222171-142222172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190473034	chr2:142222173-142222174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10195604	chr2:142222175-142222176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71391651	chr2:142222182-142222183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557302597	chr2:142222204-142222205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112429237	chr2:142222252-142222253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62168038	chr2:142222253-142222254	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs62168039	chr2:142222271-142222272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs67569800	chr2:142222282-142222283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12473991	chr2:142222284-142222285	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs12470243	chr2:142222290-142222291	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:61)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142220600-142221000	Enhancers	Brain Angular Gyrus	brain
2	chr2:142221600-142221800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:142221800-142225800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:142225000-142226000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr2:142225000-142227000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:142225400-142226600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:142225600-142227000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:142225800-142226000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:142227000-142238000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:142229200-142239000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:142230600-142231400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:142231400-142236600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:142236600-142239400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:142237200-142237400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:142237400-142238400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:142238000-142238200	Enhancers	Brain Substantia Nigra	brain
17	chr2:142238000-142239400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:142238400-142239400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:142239000-142239200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:142239200-142239400	Genic enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:142239400-142256400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:142247400-142249600	Enhancers	Brain Angular Gyrus	brain
23	chr2:142247400-142249600	Enhancers	Brain Substantia Nigra	brain
24	chr2:142247600-142247800	Enhancers	Brain Anterior Caudate	brain
25	chr2:142247800-142249400	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr2:142247800-142249600	Enhancers	Brain Hippocampus Middle	brain
27	chr2:142247800-142266200	Weak transcription	Brain Anterior Caudate	brain
28	chr2:142248000-142249600	Enhancers	Brain Cingulate Gyrus	brain
29	chr2:142248200-142250000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:142248200-142250200	Enhancers	Muscle Satellite Cultured Cells	--
31	chr2:142248600-142249000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:142248600-142249200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:142248600-142249600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:142248600-142250000	Enhancers	NH-A	brain
35	chr2:142248800-142249800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:142249000-142249400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:142249000-142249600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:142249000-142249600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:142249200-142251200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:142249400-142249600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:142249400-142251400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr2:142249600-142254800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:142249600-142257600	Weak transcription	Brain Substantia Nigra	brain
44	chr2:142249800-142251000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:142250000-142255000	Weak transcription	NH-A	brain
46	chr2:142250200-142254800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr2:142251000-142251800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:142251000-142251800	Enhancers	Esophagus	oesophagus
49	chr2:142251600-142251800	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr2:142252800-142255000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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