Variant report

Variant	nsv1036139
Chromosome Location	chr12:84140463-84260139
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:84191313..84194252-chr12:84200577..84203127,2	MCF-7	breast:
2	chr12:83856040..83856789-chr12:84217180..84218034,3	MCF-7	breast:
3	chr12:84257472..84261320-chr12:84262069..84264682,4	MCF-7	breast:
4	chr12:83077283..83077912-chr12:84217331..84217998,2	MCF-7	breast:
5	chr12:84219601..84220107-chr12:84891353..84892072,2	MCF-7	breast:
6	chr12:84191313..84194252-chr12:84200577..84203127,2	MCF-7	breast:
7	chr12:84219646..84220339-chr12:84896793..84897478,2	MCF-7	breast:
8	chr12:84219948..84220960-chr12:84349104..84349647,3	MCF-7	breast:
9	chr12:84219617..84220155-chr12:84790822..84791366,2	MCF-7	breast:
10	chr12:84199392..84199909-chr12:84217037..84217865,2	MCF-7	breast:
11	chr12:82910494..82911273-chr12:84217531..84218136,2	MCF-7	breast:
12	chr12:83079271..83080216-chr12:84217192..84217878,5	MCF-7	breast:
13	chr12:83079205..83080097-chr12:84217208..84218130,4	MCF-7	breast:
14	chr12:84235620..84237833-chr12:84261114..84263120,2	MCF-7	breast:
15	chr12:83080291..83081825-chr12:84257884..84260777,2	MCF-7	breast:
16	chr12:82920722..82921355-chr12:84217213..84217834,2	MCF-7	breast:
17	chr12:84219094..84220507-chr12:84790896..84791617,3	MCF-7	breast:
18	chr12:84142380..84143885-chr12:84146991..84148661,2	MCF-7	breast:
19	chr12:84199392..84199909-chr12:84217037..84217865,2	MCF-7	breast:
20	chr12:84190532..84192129-chr12:84200267..84202218,2	K562	blood:
21	chr12:84190532..84192129-chr12:84200267..84202218,2	K562	blood:
22	chr12:84142380..84143885-chr12:84146991..84148661,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000179104	chromatin interactions

Extended variants
information (count: 2019 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:2019 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376913649	chr12:84146633-84146634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74781842	chr12:84146668-84146669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533243014	chr12:84146675-84146676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150498305	chr12:84146736-84146737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17011224	chr12:84146762-84146763	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs189983395	chr12:84146832-84146833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs991838	chr12:84146845-84146846	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs577188857	chr12:84146963-84146964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545478646	chr12:84146985-84146986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11116011	chr12:84147022-84147023	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs991837	chr12:84147026-84147027	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs373751543	chr12:84147053-84147054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1460377	chr12:84147059-84147060	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs111527061	chr12:84147060-84147061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs991836	chr12:84147061-84147062	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs991835	chr12:84147067-84147068	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs576057986	chr12:84147095-84147096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs373593860	chr12:84147096-84147097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139516695	chr12:84147142-84147143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113830586	chr12:84147149-84147150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531987886	chr12:84147160-84147161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547040530	chr12:84147169-84147170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565784507	chr12:84147177-84147178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs7485248	chr12:84147226-84147227	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs549143571	chr12:84147235-84147236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34822191	chr12:84147238-84147239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs78970215	chr12:84147248-84147249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560893178	chr12:84147266-84147267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs11116012	chr12:84147295-84147296	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs550128644	chr12:84147296-84147297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537383570	chr12:84147308-84147309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570195405	chr12:84147369-84147370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182616161	chr12:84147414-84147415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571622894	chr12:84147538-84147539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149704056	chr12:84147543-84147544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186472510	chr12:84147550-84147551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375283567	chr12:84147592-84147593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568921536	chr12:84156675-84156676	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs141514131	chr12:84156680-84156681	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7298094	chr12:84156706-84156707	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs368721944	chr12:84156725-84156726	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572922939	chr12:84156733-84156734	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111662265	chr12:84156802-84156803	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190792872	chr12:84156822-84156823	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7298066	chr12:84156834-84156835	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs547006280	chr12:84156855-84156856	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573645134	chr12:84156964-84156965	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7313086	chr12:84156988-84156989	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs7312136	chr12:84156992-84156993	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs76115500	chr12:84156996-84156997	Weak transcription ZNF genes & repeats Enhancers	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
Breast cancer	22522925	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:84146600-84147600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:84146600-84147600	Enhancers	NHEK	skin
3	chr12:84146800-84147400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:84156600-84156800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:84156600-84157400	Enhancers	NHEK	skin
6	chr12:84156600-84158000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:84156600-84158400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:84156800-84157800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:84156800-84158200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:84157400-84157800	Flanking Active TSS	NHEK	skin
11	chr12:84157800-84158000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:84157800-84158200	Enhancers	NHEK	skin
13	chr12:84158000-84162600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:84161600-84163400	Enhancers	Fetal Kidney	kidney
15	chr12:84162600-84162800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:84162800-84163400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:84183800-84184200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr12:84184000-84184200	Enhancers	Brain Hippocampus Middle	brain
19	chr12:84184000-84184400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr12:84184000-84186000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr12:84184000-84186200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr12:84184200-84184800	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr12:84184200-84185600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr12:84184400-84185400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr12:84185400-84185800	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr12:84185600-84185800	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr12:84186000-84190200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr12:84187400-84188000	Enhancers	Liver	Liver
29	chr12:84189600-84190400	Enhancers	Placenta Amnion	Placenta Amnion
30	chr12:84189600-84191200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr12:84190200-84190800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr12:84190400-84190800	Enhancers	Brain Cingulate Gyrus	brain
33	chr12:84195800-84196200	Enhancers	A549	lung
34	chr12:84196200-84196600	Weak transcription	A549	lung
35	chr12:84196600-84196800	Enhancers	A549	lung
36	chr12:84196800-84198200	Weak transcription	A549	lung
37	chr12:84198000-84198600	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr12:84198200-84199000	Enhancers	A549	lung
39	chr12:84198600-84199400	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr12:84199000-84199200	Flanking Active TSS	A549	lung
41	chr12:84199000-84200000	Enhancers	Hela-S3	cervix
42	chr12:84199200-84200000	Active TSS	A549	lung
43	chr12:84199400-84204800	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr12:84200000-84200200	Flanking Active TSS	A549	lung
45	chr12:84200200-84200400	Enhancers	A549	lung
46	chr12:84201000-84202000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:84201800-84202600	Enhancers	Adipose Nuclei	Adipose
48	chr12:84202000-84202800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:84202200-84203000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:84202800-84203000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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