Variant report

Variant	nsv875251
Chromosome Location	chr2:142656200-142701852
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:142265321..142267918-chr2:142664161..142666622,2	MCF-7	breast:
2	chr2:142691573..142694567-chr2:142695024..142697127,2	MCF-7	breast:
3	chr1:113162257..113162758-chr2:142690590..142691090,2	Hela-S3	cervix:
4	chr2:142680757..142682303-chr2:142682343..142684939,2	MCF-7	breast:
5	chr2:142691573..142694567-chr2:142695024..142697127,2	MCF-7	breast:
6	chr2:142680757..142682303-chr2:142682343..142684939,2	MCF-7	breast:
7	chr2:142664496..142667216-chr2:142887866..142889638,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168702	chromatin interactions
ENSG00000007341	chromatin interactions
ENSG00000116489	chromatin interactions

Extended variants
information (count: 908 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:908 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2381169	chr2:142658047-142658048	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs72850843	chr2:142658048-142658049	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs561763478	chr2:142658101-142658102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs983540	chr2:142658129-142658130	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs527776370	chr2:142658181-142658182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547805702	chr2:142658288-142658289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547759519	chr2:142658339-142658340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs367615345	chr2:142658358-142658359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190525493	chr2:142658430-142658431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139827636	chr2:142658493-142658494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569526670	chr2:142658498-142658499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538402136	chr2:142658520-142658521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558326110	chr2:142658577-142658578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143133719	chr2:142658621-142658622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs180856450	chr2:142658709-142658710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs74329185	chr2:142658713-142658714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574322783	chr2:142658731-142658732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543320364	chr2:142658753-142658754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6429929	chr2:142658766-142658767	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs7558739	chr2:142658784-142658785	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs545658738	chr2:142658807-142658808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs375136764	chr2:142658819-142658820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565463946	chr2:142658854-142658855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs527814837	chr2:142658867-142658868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547546613	chr2:142658868-142658869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140373436	chr2:142658886-142658887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs367973526	chr2:142658909-142658910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530005463	chr2:142658982-142658983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569967257	chr2:142659026-142659027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183797554	chr2:142659036-142659037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188366884	chr2:142659071-142659072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538534692	chr2:142659129-142659130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570117907	chr2:142659135-142659136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181230244	chr2:142659204-142659205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529465218	chr2:142659217-142659218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185724337	chr2:142659258-142659259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572453619	chr2:142659262-142659263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7562049	chr2:142659305-142659306	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs200964142	chr2:142659307-142659308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554333011	chr2:142659315-142659316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78293574	chr2:142659352-142659353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145456844	chr2:142659367-142659368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189022261	chr2:142659421-142659422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576844762	chr2:142659440-142659441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545695233	chr2:142659461-142659462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565501719	chr2:142659485-142659486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572515776	chr2:142659524-142659525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374304985	chr2:142659532-142659533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377219166	chr2:142659533-142659534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs33938454	chr2:142659534-142659535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
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
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142658000-142658200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:142658200-142658800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:142658400-142659000	Enhancers	HMEC	breast
4	chr2:142658400-142659200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:142658600-142659000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:142658800-142659000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:142659000-142664000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:142664000-142664600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:142669000-142669400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:142669000-142669400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr2:142669000-142669400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr2:142669000-142669400	Enhancers	Brain Anterior Caudate	brain
13	chr2:142680600-142682200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:142680600-142682400	Enhancers	HMEC	breast
15	chr2:142681200-142681800	Enhancers	Hela-S3	cervix
16	chr2:142681200-142682000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:142681200-142682400	Enhancers	NH-A	brain
18	chr2:142681400-142682000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:142681600-142681800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:142681600-142682400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:142681800-142682000	Enhancers	Gastric	stomach
22	chr2:142681800-142682000	Enhancers	NHDF-Ad	bronchial
23	chr2:142681800-142683800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:142682000-142682400	Enhancers	Pancreas	Pancrea
25	chr2:142682000-142683000	Weak transcription	NHDF-Ad	bronchial
26	chr2:142682200-142685200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:142682400-142685200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:142682400-142685200	Weak transcription	HMEC	breast
29	chr2:142683000-142683400	Enhancers	NHDF-Ad	bronchial
30	chr2:142683000-142688400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:142683200-142683400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:142683200-142683600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:142683400-142684600	Weak transcription	NHDF-Ad	bronchial
34	chr2:142683400-142688000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr2:142683600-142684000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:142684000-142684200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:142684200-142687600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:142684600-142684800	Enhancers	NHDF-Ad	bronchial
39	chr2:142684800-142685200	Weak transcription	NHDF-Ad	bronchial
40	chr2:142685200-142685800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:142685200-142685800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:142685200-142685800	Enhancers	HMEC	breast
43	chr2:142685200-142686800	Enhancers	NHDF-Ad	bronchial
44	chr2:142686800-142687000	Flanking Active TSS	NHDF-Ad	bronchial
45	chr2:142687000-142687400	Active TSS	NHDF-Ad	bronchial
46	chr2:142687000-142687600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:142687400-142687800	Weak transcription	NHDF-Ad	bronchial
48	chr2:142687600-142688200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:142687600-142688200	Enhancers	Adipose Nuclei	Adipose
50	chr2:142687600-142689000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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