Variant report

Variant	nsv559545
Chromosome Location	chr12:83168616-83191478
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:83080290..83082934-chr12:83176093..83178642,2	MCF-7	breast:
2	chr12:83149723..83152212-chr12:83167569..83170218,2	MCF-7	breast:
3	chr12:83179690..83182386-chr12:83184682..83186402,2	K562	blood:
4	chr12:83168957..83170901-chr12:83176146..83179018,2	K562	blood:
5	chr12:83179690..83182386-chr12:83184682..83186402,2	K562	blood:
6	chr12:83179690..83182386-chr12:83183697..83186402,3	K562	blood:
7	chr12:83168957..83170901-chr12:83176146..83179018,2	K562	blood:
8	chr12:83180286..83182818-chr12:83185863..83187878,2	MCF-7	breast:
9	chr12:83163920..83166046-chr12:83167573..83169394,2	MCF-7	breast:
10	chr12:83179690..83182386-chr12:83183697..83186402,3	K562	blood:
11	chr12:83180286..83182818-chr12:83185863..83187878,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000179104	chromatin interactions

Extended variants
information (count: 851 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:851 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10047619	chr12:83168616-83168617	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576945104	chr12:83168640-83168641	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373895109	chr12:83168660-83168661	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560105497	chr12:83168661-83168662	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189574991	chr12:83168702-83168703	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76023050	chr12:83168731-83168732	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76212858	chr12:83168778-83168779	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368106564	chr12:83168813-83168814	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77791606	chr12:83168827-83168828	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181874349	chr12:83168848-83168849	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570496819	chr12:83168865-83168866	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10047600	chr12:83168932-83168933	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs537208902	chr12:83168947-83168948	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565639264	chr12:83168948-83168949	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74411684	chr12:83168979-83168980	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186320848	chr12:83168985-83168986	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555948178	chr12:83169053-83169054	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11115411	chr12:83169056-83169057	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs537128027	chr12:83169073-83169074	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11115412	chr12:83169083-83169084	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs576876838	chr12:83169095-83169096	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114207577	chr12:83169118-83169119	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560042776	chr12:83169121-83169122	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575174591	chr12:83169126-83169127	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142452078	chr12:83169187-83169188	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563881867	chr12:83169205-83169206	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10083084	chr12:83169234-83169235	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs149858531	chr12:83169241-83169242	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11115413	chr12:83169263-83169264	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs554680022	chr12:83169269-83169270	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546596885	chr12:83169285-83169286	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10082955	chr12:83169297-83169298	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs557525298	chr12:83169398-83169399	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190870718	chr12:83169405-83169406	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548216118	chr12:83169436-83169437	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145875940	chr12:83169446-83169447	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536869968	chr12:83169490-83169491	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs34436935	chr12:83169532-83169533	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs11115414	chr12:83169533-83169534	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs570567247	chr12:83169539-83169540	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs180690793	chr12:83169551-83169552	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565510991	chr12:83169574-83169575	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552999566	chr12:83169621-83169622	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574375596	chr12:83169624-83169625	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186381852	chr12:83169632-83169633	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191386656	chr12:83169636-83169637	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563888848	chr12:83169641-83169642	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs386764743	chr12:83169664-83169665	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs183059389	chr12:83169700-83169701	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546083152	chr12:83169736-83169737	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Breast cancer	21785460	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

Chromatin state (count:358 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83150600-83174400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr12:83151600-83173200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:83153200-83198600	Weak transcription	Fetal Intestine Small	intestine
4	chr12:83155200-83177200	Weak transcription	Fetal Kidney	kidney
5	chr12:83155400-83169800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr12:83157200-83196000	Weak transcription	Fetal Muscle Leg	muscle
7	chr12:83162200-83173800	Weak transcription	Fetal Lung	lung
8	chr12:83162600-83169600	Weak transcription	Brain Substantia Nigra	brain
9	chr12:83162800-83169800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr12:83162800-83174600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:83163000-83170000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr12:83163000-83172800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:83164400-83176200	Weak transcription	Fetal Heart	heart
14	chr12:83166000-83170200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:83166800-83170000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:83167200-83169600	Weak transcription	Stomach Mucosa	stomach
17	chr12:83168000-83169200	Strong transcription	Fetal Stomach	stomach
18	chr12:83168400-83168800	Enhancers	Placenta Amnion	Placenta Amnion
19	chr12:83168400-83168800	Enhancers	Rectal Smooth Muscle	rectum
20	chr12:83168400-83169200	Enhancers	Colon Smooth Muscle	Colon
21	chr12:83168400-83169400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:83168400-83170000	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr12:83168400-83171200	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr12:83168600-83168800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:83168600-83168800	Enhancers	Gastric	stomach
26	chr12:83168600-83170600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:83168800-83169000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr12:83168800-83169200	Weak transcription	Gastric	stomach
29	chr12:83168800-83169600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr12:83169000-83170200	Enhancers	Placenta Amnion	Placenta Amnion
31	chr12:83169000-83177400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:83169200-83176200	Weak transcription	Colon Smooth Muscle	Colon
33	chr12:83169200-83182600	Weak transcription	Fetal Stomach	stomach
34	chr12:83169400-83189400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:83169600-83169800	Enhancers	Brain Substantia Nigra	brain
36	chr12:83169600-83170200	Enhancers	Rectal Smooth Muscle	rectum
37	chr12:83169800-83170000	Enhancers	Stomach Smooth Muscle	stomach
38	chr12:83169800-83170200	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr12:83169800-83170200	Weak transcription	Brain Substantia Nigra	brain
40	chr12:83170000-83170200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr12:83170000-83170200	Enhancers	Brain Cingulate Gyrus	brain
42	chr12:83170000-83178000	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr12:83170200-83170600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr12:83170200-83170600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:83170200-83170600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr12:83170200-83170800	Enhancers	Brain Substantia Nigra	brain
47	chr12:83170200-83175600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr12:83170200-83175600	Weak transcription	Rectal Smooth Muscle	rectum
49	chr12:83170600-83170800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr12:83170600-83170800	Enhancers	Brain Cingulate Gyrus	brain

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