Variant report

Variant	nsv975649
Chromosome Location	chr12:48047382-48053390
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:47426174..47426833-chr12:48051074..48051739,2	MCF-7	breast:
2	chr12:48044022..48046311-chr12:48051570..48054955,3	K562	blood:
3	chr12:47940639..47941454-chr12:48051090..48052018,3	MCF-7	breast:
4	chr12:48040105..48042458-chr12:48048872..48051635,2	K562	blood:
5	chr12:48051468..48053610-chr12:48056133..48058641,2	K562	blood:
6	chr12:48044527..48046603-chr12:48048041..48049724,2	K562	blood:
7	chr12:48049652..48051782-chr12:48054886..48057074,2	K562	blood:
8	chr12:48050085..48052473-chr12:48066731..48069120,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000005175	chromatin interactions

Extended variants
information (count: 210 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:210 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144374387	chr12:48047384-48047385	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1233051	chr12:48047404-48047405	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs193048890	chr12:48047414-48047415	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534857161	chr12:48047434-48047435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539321675	chr12:48047539-48047540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73102166	chr12:48047552-48047553	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs578140484	chr12:48047572-48047573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566533672	chr12:48047573-48047574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557715839	chr12:48047580-48047581	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185807274	chr12:48047600-48047601	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552680870	chr12:48047619-48047620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543062173	chr12:48047625-48047626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559567413	chr12:48047627-48047628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12367193	chr12:48047659-48047660	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs553188987	chr12:48047660-48047661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148774106	chr12:48047666-48047667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531498970	chr12:48047685-48047686	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12367214	chr12:48047691-48047692	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532985775	chr12:48047707-48047708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549646786	chr12:48047722-48047723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73102168	chr12:48047793-48047794	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs528829848	chr12:48047802-48047803	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs369912616	chr12:48047844-48047845	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147167862	chr12:48047847-48047848	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565597159	chr12:48047891-48047892	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs36066664	chr12:48047892-48047893	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373441311	chr12:48047914-48047915	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534708284	chr12:48047920-48047921	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs76830668	chr12:48047947-48047948	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs377335417	chr12:48047953-48047954	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571847441	chr12:48047995-48047996	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537678436	chr12:48047996-48047997	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576027707	chr12:48048010-48048011	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568295502	chr12:48048034-48048035	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557654996	chr12:48048085-48048086	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140451713	chr12:48048088-48048089	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7964752	chr12:48048091-48048092	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs553320805	chr12:48048110-48048111	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573200973	chr12:48048227-48048228	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545459419	chr12:48048254-48048255	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565267472	chr12:48048257-48048258	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577382139	chr12:48048308-48048309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543234449	chr12:48048357-48048358	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563195050	chr12:48048365-48048366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544097773	chr12:48048385-48048386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529159644	chr12:48048447-48048448	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546144307	chr12:48048452-48048453	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1233050	chr12:48048467-48048468	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs192798943	chr12:48048529-48048530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs63659161	chr12:48048608-48048609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Breast cancer	21785460	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:187 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48007400-48055400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:48015600-48055200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:48029400-48055400	Weak transcription	Thymus	Thymus
4	chr12:48029800-48098800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:48031000-48083200	Weak transcription	Esophagus	oesophagus
6	chr12:48031200-48051400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:48031200-48053200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:48031400-48058400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:48036600-48055400	Weak transcription	Ovary	ovary
10	chr12:48038200-48059400	Weak transcription	Small Intestine	intestine
11	chr12:48038600-48051400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:48039000-48052800	Weak transcription	Dnd41	blood
13	chr12:48039200-48052800	Weak transcription	Fetal Intestine Large	intestine
14	chr12:48039400-48058400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:48040000-48051400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:48040200-48050000	Weak transcription	Primary B cells from cord blood	blood
17	chr12:48040600-48086000	Weak transcription	Fetal Brain Male	brain
18	chr12:48042200-48058400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr12:48042400-48060200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr12:48042600-48054800	Weak transcription	Placenta	Placenta
21	chr12:48043200-48054600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:48043400-48080000	Weak transcription	NHEK	skin
23	chr12:48043800-48053600	Weak transcription	Left Ventricle	heart
24	chr12:48043800-48055600	Weak transcription	Right Ventricle	heart
25	chr12:48045000-48051800	Weak transcription	Aorta	Aorta
26	chr12:48045000-48055200	Weak transcription	NH-A	brain
27	chr12:48045200-48052000	Weak transcription	Brain Germinal Matrix	brain
28	chr12:48045200-48059600	Weak transcription	HMEC	breast
29	chr12:48045200-48060200	Weak transcription	Spleen	Spleen
30	chr12:48045200-48079200	Weak transcription	NHLF	lung
31	chr12:48045400-48053800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr12:48045400-48055800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr12:48045600-48050400	Weak transcription	Fetal Thymus	thymus
34	chr12:48045600-48050800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:48045600-48051000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr12:48045600-48053000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:48045600-48054600	Weak transcription	Osteobl	bone
38	chr12:48045600-48055800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr12:48045600-48055800	Weak transcription	Hela-S3	cervix
40	chr12:48045600-48056600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr12:48045600-48062200	Weak transcription	Stomach Mucosa	stomach
42	chr12:48045800-48052800	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr12:48045800-48052800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr12:48045800-48053000	Weak transcription	Primary B cells from peripheral blood	blood
45	chr12:48045800-48058200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr12:48045800-48058400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr12:48046000-48052200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr12:48046000-48055400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr12:48046000-48058400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr12:48046200-48053400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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