Variant report

Variant	nsv459596
Chromosome Location	chr2:142180729-142218508
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:142189797..142191376-chr2:142887481..142889712,2	MCF-7	breast:
2	chr2:142186559..142188286-chr2:142189244..142191803,2	MCF-7	breast:
3	chr2:142176781..142180982-chr2:142186884..142191096,4	MCF-7	breast:
4	chr2:142186559..142188286-chr2:142189244..142191803,2	MCF-7	breast:
5	chr2:142176781..142180982-chr2:142186884..142191096,4	MCF-7	breast:
6	chr2:142217841..142219887-chr2:142221118..142223354,2	K562	blood:

Variant related genes	Relation type
ENSG00000168702	chromatin interactions

Extended variants
information (count: 979 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:979 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11892609	chr2:142180729-142180730	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs16846077	chr2:142180788-142180789	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs546807758	chr2:142180791-142180792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542766587	chr2:142180801-142180802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6717169	chr2:142180831-142180832	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs535405415	chr2:142180834-142180835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75850788	chr2:142180853-142180854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs72846887	chr2:142180860-142180861	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs36165054	chr2:142180869-142180870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10601129	chr2:142180873-142180874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34083958	chr2:142180877-142180878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76294405	chr2:142180881-142180882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34719837	chr2:142180883-142180884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11903216	chr2:142180886-142180887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549598469	chr2:142180907-142180908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577680383	chr2:142180912-142180913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188450692	chr2:142180949-142180950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539939456	chr2:142180989-142180990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373815141	chr2:142181066-142181067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs202184321	chr2:142181072-142181073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200311233	chr2:142181073-142181074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11885730	chr2:142181074-142181075	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs6745748	chr2:142181077-142181078	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs77695545	chr2:142181122-142181123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573354543	chr2:142181177-142181178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184749560	chr2:142181205-142181206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189494285	chr2:142181214-142181215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533494831	chr2:142181254-142181255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546775385	chr2:142181259-142181260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560334964	chr2:142181273-142181274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs145836736	chr2:142181279-142181280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531957195	chr2:142181333-142181334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs34237592	chr2:142181394-142181395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544042118	chr2:142181395-142181396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547855366	chr2:142181396-142181397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs67960981	chr2:142181404-142181405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548720210	chr2:142181405-142181406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs62167984	chr2:142181411-142181412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs62167985	chr2:142181413-142181414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs67427799	chr2:142181419-142181420	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs537710119	chr2:142181421-142181422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191276529	chr2:142181454-142181455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs377026237	chr2:142181479-142181480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533938073	chr2:142181518-142181519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183731161	chr2:142181521-142181522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573739536	chr2:142181564-142181565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs7604713	chr2:142181582-142181583	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs189787498	chr2:142181669-142181670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs201448116	chr2:142181672-142181673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs386651234	chr2:142181673-142181674	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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142180000-142182200	Enhancers	Dnd41	blood
2	chr2:142194400-142194800	Enhancers	Brain Substantia Nigra	brain
3	chr2:142194800-142195600	Weak transcription	Brain Substantia Nigra	brain
4	chr2:142195600-142196400	Enhancers	Brain Hippocampus Middle	brain
5	chr2:142195600-142196400	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr2:142195600-142196400	Enhancers	Brain Substantia Nigra	brain
7	chr2:142196400-142197600	Enhancers	NH-A	brain
8	chr2:142196400-142199200	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:142196600-142205800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:142205000-142205400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:142205200-142206200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:142205400-142206400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:142205800-142206200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:142205800-142206400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:142205800-142206800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr2:142206000-142206400	Enhancers	H9 Cell Line	embryonic stem cell
17	chr2:142206200-142206600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr2:142206400-142208200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:142206600-142207000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr2:142206600-142212400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:142206800-142212200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:142207000-142212200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr2:142212000-142212200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr2:142212200-142212400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr2:142212200-142213200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr2:142212200-142213800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr2:142212400-142212600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr2:142212400-142213200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr2:142212600-142213400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr2:142212600-142213800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:142212600-142213800	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr2:142212600-142213800	Enhancers	Placenta Amnion	Placenta Amnion
33	chr2:142212800-142213800	Enhancers	H9 Cell Line	embryonic stem cell
34	chr2:142212800-142214200	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr2:142213000-142213800	Enhancers	H1 Cell Line	embryonic stem cell
36	chr2:142213000-142213800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr2:142213200-142213400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr2:142213200-142213800	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr2:142213200-142213800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:142213200-142214000	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr2:142213400-142213800	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr2:142213400-142213800	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr2:142213600-142213800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr2:142213800-142214200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr2:142213800-142215000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr2:142217200-142217400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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