Variant report

Variant	nsv559569
Chromosome Location	chr12:84213699-84359892
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:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:84219948..84220960-chr12:84349104..84349647,3	MCF-7	breast:
2	chr12:84219948..84220960-chr12:84349104..84349647,3	MCF-7	breast:
3	chr12:84298030..84299669-chr12:84301549..84304383,2	K562	blood:
4	chr12:84257472..84261320-chr12:84262069..84264682,4	MCF-7	breast:
5	chr12:84270623..84273533-chr12:84303786..84305748,2	MCF-7	breast:
6	chr12:83856040..83856789-chr12:84217180..84218034,3	MCF-7	breast:
7	chr12:84298030..84299669-chr12:84301549..84304383,2	K562	blood:
8	chr12:84272692..84275018-chr12:84275623..84277392,2	MCF-7	breast:
9	chr12:83079205..83080097-chr12:84217208..84218130,4	MCF-7	breast:
10	chr12:84219646..84220339-chr12:84896793..84897478,2	MCF-7	breast:
11	chr12:83077283..83077912-chr12:84217331..84217998,2	MCF-7	breast:
12	chr12:82910494..82911273-chr12:84217531..84218136,2	MCF-7	breast:
13	chr12:84276799..84278474-chr20:45988477..45990232,2	MCF-7	breast:
14	chr12:84235620..84237833-chr12:84261114..84263120,2	MCF-7	breast:
15	chr12:84272692..84275018-chr12:84275623..84277392,2	MCF-7	breast:
16	chr12:84219601..84220107-chr12:84891353..84892072,2	MCF-7	breast:
17	chr12:84272240..84274157-chr12:84279540..84281050,2	K562	blood:
18	chr12:84270623..84273533-chr12:84303786..84305748,2	MCF-7	breast:
19	chr1:54192091..54193000-chr12:84272022..84272741,2	MCF-7	breast:
20	chr12:84219094..84220507-chr12:84790896..84791617,3	MCF-7	breast:
21	chr12:84199392..84199909-chr12:84217037..84217865,2	MCF-7	breast:
22	chr12:82920722..82921355-chr12:84217213..84217834,2	MCF-7	breast:
23	chr12:84272240..84274157-chr12:84279540..84281050,2	K562	blood:
24	chr12:83080291..83081825-chr12:84257884..84260777,2	MCF-7	breast:
25	chr12:84235620..84237833-chr12:84261114..84263120,2	MCF-7	breast:
26	chr12:83079271..83080216-chr12:84217192..84217878,5	MCF-7	breast:
27	chr12:84257472..84261320-chr12:84262069..84264682,4	MCF-7	breast:
28	chr12:84315911..84318774-chr12:84319552..84322356,2	K562	blood:
29	chr12:84219617..84220155-chr12:84790822..84791366,2	MCF-7	breast:
30	chr12:84315911..84318774-chr12:84319552..84322356,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000179104	chromatin interactions

Extended variants
information (count: 2365 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:2365 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1841335	chr12:84213699-84213700	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs576585770	chr12:84213706-84213707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116271045	chr12:84213723-84213724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs17813516	chr12:84213738-84213739	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs574412305	chr12:84213750-84213751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10506903	chr12:84213791-84213792	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs60268183	chr12:84213818-84213819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561161296	chr12:84213823-84213824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531824121	chr12:84213852-84213853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550054637	chr12:84213872-84213873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187387764	chr12:84213874-84213875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532718865	chr12:84213916-84213917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191811566	chr12:84213945-84213946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376066170	chr12:84213965-84213966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7489142	chr12:84214048-84214049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566354432	chr12:84214081-84214082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2403153	chr12:84214082-84214083	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs548158285	chr12:84214099-84214100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569595302	chr12:84214114-84214115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537051584	chr12:84214118-84214119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1026552	chr12:84214158-84214159	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs374587202	chr12:84214202-84214203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368002408	chr12:84214271-84214272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1026553	chr12:84214272-84214273	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs376204455	chr12:84214277-84214278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370898891	chr12:84214279-84214280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111321634	chr12:84214281-84214282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77986065	chr12:84214288-84214289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs61954570	chr12:84214290-84214291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574376346	chr12:84214293-84214294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541799706	chr12:84214303-84214304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2403154	chr12:84214319-84214320	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs566615848	chr12:84214320-84214321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576311959	chr12:84214329-84214330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2403155	chr12:84214333-84214334	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs183634733	chr12:84214340-84214341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147748192	chr12:84214383-84214384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537979321	chr12:84214413-84214414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552092225	chr12:84214414-84214415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547993850	chr12:84214521-84214522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556225895	chr12:84214533-84214534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560028190	chr12:84214537-84214538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs55694044	chr12:84214542-84214543	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs28689559	chr12:84214557-84214558	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs537472980	chr12:84214576-84214577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147572432	chr12:84214602-84214603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149028253	chr12:84214638-84214639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551780245	chr12:84214713-84214714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143093222	chr12:84214716-84214717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570192373	chr12:84214771-84214772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:167 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:84213000-84213800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr12:84213600-84215400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:84213600-84215800	Weak transcription	A549	lung
4	chr12:84215400-84216200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:84215600-84216400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:84215800-84216400	Enhancers	A549	lung
7	chr12:84216200-84220000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:84216600-84221000	Weak transcription	Right Atrium	heart
9	chr12:84217200-84217600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:84217600-84220200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:84220000-84222000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:84220000-84222800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr12:84220200-84221600	Enhancers	HMEC	breast
14	chr12:84220200-84222000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:84220400-84222400	Enhancers	Fetal Muscle Leg	muscle
16	chr12:84220600-84221400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:84220800-84221400	Enhancers	NHEK	skin
18	chr12:84220800-84221600	Enhancers	Placenta Amnion	Placenta Amnion
19	chr12:84220800-84222200	Enhancers	Brain Anterior Caudate	brain
20	chr12:84220800-84222400	Enhancers	Brain Hippocampus Middle	brain
21	chr12:84221000-84221200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:84221000-84221400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:84221000-84221400	Enhancers	Brain Cingulate Gyrus	brain
24	chr12:84221000-84221800	Enhancers	Right Atrium	heart
25	chr12:84221000-84222000	Enhancers	Fetal Muscle Trunk	muscle
26	chr12:84221000-84222400	Enhancers	Brain Substantia Nigra	brain
27	chr12:84221400-84222600	Enhancers	Fetal Stomach	stomach
28	chr12:84221400-84222800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr12:84221800-84222200	Enhancers	Adipose Nuclei	Adipose
30	chr12:84221800-84222600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:84221800-84222800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr12:84222000-84222400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr12:84222000-84222600	Enhancers	H9 Cell Line	embryonic stem cell
34	chr12:84222000-84222600	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr12:84234000-84234200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:84234000-84234200	Enhancers	Placenta Amnion	Placenta Amnion
37	chr12:84234200-84234400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:84234400-84235400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:84234800-84236000	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr12:84235400-84236600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:84235600-84236400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:84235600-84236400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:84235600-84236400	Enhancers	NHDF-Ad	bronchial
44	chr12:84235600-84236600	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr12:84235600-84236600	Enhancers	HMEC	breast
46	chr12:84235600-84236600	Enhancers	NHEK	skin
47	chr12:84235800-84236600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:84236000-84236400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:84236000-84236600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr12:84236000-84236600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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