Variant report

Variant	nsv875241
Chromosome Location	chr2:142210946-142239599
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:142223533..142226548-chr2:142266133..142269163,3	MCF-7	breast:
2	chr2:142225007..142227143-chr2:142273674..142276575,2	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	chr2:142223846..142226689-chr2:142887518..142889461,2	MCF-7	breast:
6	chr2:142229576..142232084-chr2:142232703..142234268,2	MCF-7	breast:
7	chr2:142152511..142154867-chr2:142224989..142226849,2	MCF-7	breast:
8	chr2:142224514..142226282-chr2:142227850..142230425,2	MCF-7	breast:
9	chr2:142219246..142221471-chr2:142222872..142224953,3	MCF-7	breast:
10	chr2:142217841..142219887-chr2:142221118..142223354,2	K562	blood:
11	chr2:142217841..142219887-chr2:142221118..142223354,2	K562	blood:
12	chr2:142224840..142226819-chr2:142260426..142263186,2	MCF-7	breast:
13	chr2:142224514..142226282-chr2:142227850..142230425,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000168702	chromatin interactions

Extended variants
information (count: 1089 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1089 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12993942	chr2:142210946-142210947	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114428032	chr2:142211016-142211017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535300953	chr2:142211086-142211087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113056743	chr2:142211101-142211102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114701871	chr2:142211120-142211121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4255910	chr2:142211238-142211239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575538427	chr2:142211241-142211242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555680745	chr2:142211252-142211253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537750635	chr2:142211253-142211254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557989472	chr2:142211259-142211260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182479133	chr2:142211276-142211277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187088159	chr2:142211316-142211317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560325358	chr2:142211325-142211326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113482635	chr2:142211344-142211345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573773802	chr2:142211381-142211382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542491335	chr2:142211388-142211389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs56052711	chr2:142211406-142211407	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs13383589	chr2:142211419-142211420	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs551008199	chr2:142211437-142211438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577589097	chr2:142211444-142211445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13421313	chr2:142211495-142211496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs66823116	chr2:142211496-142211497	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs79096259	chr2:142211505-142211506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567861648	chr2:142211532-142211533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191896255	chr2:142211540-142211541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183553492	chr2:142211550-142211551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148175501	chr2:142211625-142211626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566665148	chr2:142211635-142211636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188384041	chr2:142211638-142211639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs193213427	chr2:142211643-142211644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7600112	chr2:142211671-142211672	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs538009176	chr2:142211770-142211771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74746018	chr2:142211779-142211780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577988822	chr2:142211782-142211783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533814211	chr2:142211804-142211805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553803127	chr2:142211817-142211818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116455828	chr2:142211862-142211863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542368010	chr2:142211878-142211879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562570159	chr2:142211912-142211913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141037271	chr2:142211967-142211968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs59663338	chr2:142212009-142212010	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs13398743	chr2:142212110-142212111	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs145135510	chr2:142212155-142212156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200850329	chr2:142212183-142212184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201568127	chr2:142212190-142212191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185508508	chr2:142212192-142212193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs58970602	chr2:142212193-142212194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71301755	chr2:142212209-142212210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546635591	chr2:142212266-142212267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373906227	chr2:142212285-142212286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142206600-142212400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:142206800-142212200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:142207000-142212200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:142212000-142212200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:142212200-142212400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr2:142212200-142213200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:142212200-142213800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:142212400-142212600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:142212400-142213200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr2:142212600-142213400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:142212600-142213800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:142212600-142213800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr2:142212600-142213800	Enhancers	Placenta Amnion	Placenta Amnion
14	chr2:142212800-142213800	Enhancers	H9 Cell Line	embryonic stem cell
15	chr2:142212800-142214200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr2:142213000-142213800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr2:142213000-142213800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr2:142213200-142213400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr2:142213200-142213800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr2:142213200-142213800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:142213200-142214000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr2:142213400-142213800	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr2:142213400-142213800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr2:142213600-142213800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr2:142213800-142214200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr2:142213800-142215000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:142217200-142217400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:142220600-142221000	Enhancers	Brain Angular Gyrus	brain
29	chr2:142221600-142221800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:142221800-142225800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:142225000-142226000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr2:142225000-142227000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr2:142225400-142226600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr2:142225600-142227000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr2:142225800-142226000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:142227000-142238000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr2:142229200-142239000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr2:142230600-142231400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:142231400-142236600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:142236600-142239400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:142237200-142237400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:142237400-142238400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:142238000-142238200	Enhancers	Brain Substantia Nigra	brain
44	chr2:142238000-142239400	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr2:142238400-142239400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:142239000-142239200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr2:142239200-142239400	Genic enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr2:142239400-142256400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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