Variant report

Variant	nsv559558
Chromosome Location	chr12:83339933-83374779
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:83079612..83081545-chr12:83368950..83370563,2	MCF-7	breast:
2	chr12:83342058..83344006-chr12:83365931..83367769,2	MCF-7	breast:
3	chr12:83369189..83370820-chr12:83374868..83377615,2	MCF-7	breast:
4	chr12:83341035..83343546-chr12:83347635..83350159,2	MCF-7	breast:
5	chr12:83342058..83344006-chr12:83365931..83367769,2	MCF-7	breast:
6	chr12:83079278..83081926-chr12:83348191..83350037,2	MCF-7	breast:
7	chr12:83364622..83366289-chr12:83368200..83369793,2	K562	blood:
8	chr12:83341035..83343546-chr12:83347635..83350159,2	MCF-7	breast:
9	chr12:83364622..83366289-chr12:83368200..83369793,2	K562	blood:
10	chr12:83366836..83369224-chr12:84561366..84563438,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000179104	chromatin interactions

Extended variants
information (count: 1310 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1310 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7970086	chr12:83339933-83339934	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562945474	chr12:83339956-83339957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143180303	chr12:83339957-83339958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1796167	chr12:83340048-83340049	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs12312680	chr12:83340051-83340052	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs34458856	chr12:83340052-83340053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553178880	chr12:83340057-83340058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140719704	chr12:83340080-83340081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550796072	chr12:83340099-83340100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1796168	chr12:83340100-83340101	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs186764751	chr12:83340141-83340142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150112623	chr12:83340146-83340147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76474075	chr12:83340147-83340148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529949660	chr12:83340150-83340151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572877073	chr12:83340221-83340222	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559253081	chr12:83340226-83340227	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534451698	chr12:83340239-83340240	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138557719	chr12:83340283-83340284	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574266284	chr12:83340312-83340313	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191698028	chr12:83340324-83340325	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184040248	chr12:83340354-83340355	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141719152	chr12:83340394-83340395	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75291394	chr12:83340410-83340411	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs1682608	chr12:83340431-83340432	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs527720579	chr12:83340504-83340505	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs532725036	chr12:83340511-83340512	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs199530393	chr12:83340516-83340517	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs369700672	chr12:83340524-83340525	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs68095076	chr12:83340525-83340526	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs546486507	chr12:83340538-83340539	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs200431833	chr12:83340539-83340540	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs1682609	chr12:83340570-83340571	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs371854928	chr12:83340584-83340585	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs188972109	chr12:83340602-83340603	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs142635476	chr12:83340682-83340683	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs1796169	chr12:83340707-83340708	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs539471617	chr12:83340708-83340709	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs113137989	chr12:83340731-83340732	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs566463098	chr12:83340740-83340741	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs533814271	chr12:83340742-83340743	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs189902635	chr12:83340743-83340744	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs1796170	chr12:83340746-83340747	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs386764754	chr12:83340793-83340794	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs199884100	chr12:83340795-83340796	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs578117651	chr12:83340798-83340799	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs199732062	chr12:83340822-83340823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370841266	chr12:83340827-83340828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548753209	chr12:83340863-83340864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73144594	chr12:83340867-83340868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1682610	chr12:83340907-83340908	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:234 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83325000-83346400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:83325600-83348000	Weak transcription	Colon Smooth Muscle	Colon
3	chr12:83326000-83340200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:83331400-83348000	Weak transcription	Brain Hippocampus Middle	brain
5	chr12:83335200-83340200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr12:83338600-83340000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:83340000-83340400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:83340200-83340400	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr12:83340200-83340800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
10	chr12:83340400-83348200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:83340800-83348400	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr12:83341800-83342000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:83342000-83352600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:83342800-83343200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr12:83343200-83343600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr12:83343600-83343800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr12:83343800-83346400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr12:83343800-83347600	Weak transcription	Brain Substantia Nigra	brain
19	chr12:83346200-83349200	Enhancers	Fetal Heart	heart
20	chr12:83346400-83347000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:83346400-83347400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:83346400-83349200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr12:83346600-83346800	Enhancers	NHEK	skin
24	chr12:83346800-83347000	Enhancers	Brain Angular Gyrus	brain
25	chr12:83346800-83347000	Enhancers	Gastric	stomach
26	chr12:83346800-83347000	Enhancers	Placenta Amnion	Placenta Amnion
27	chr12:83346800-83347000	Enhancers	HMEC	breast
28	chr12:83346800-83347200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr12:83346800-83347200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:83346800-83347200	Flanking Active TSS	NHEK	skin
31	chr12:83347000-83347400	Enhancers	Brain Cingulate Gyrus	brain
32	chr12:83347000-83348000	Weak transcription	Brain Angular Gyrus	brain
33	chr12:83347000-83348400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr12:83347000-83348800	Weak transcription	HMEC	breast
35	chr12:83347000-83367200	Weak transcription	Gastric	stomach
36	chr12:83347000-83379600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:83347200-83348000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:83347200-83349400	Enhancers	NHEK	skin
39	chr12:83347400-83347800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr12:83347400-83348400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:83347600-83349400	Enhancers	Brain Substantia Nigra	brain
42	chr12:83347800-83349200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:83347800-83349400	Enhancers	Brain Cingulate Gyrus	brain
44	chr12:83348000-83348400	Enhancers	Brain Angular Gyrus	brain
45	chr12:83348000-83349000	Enhancers	Brain Germinal Matrix	brain
46	chr12:83348000-83349200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr12:83348000-83349200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr12:83348000-83349200	Enhancers	Brain Hippocampus Middle	brain
49	chr12:83348000-83349200	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr12:83348000-83349200	Enhancers	Stomach Mucosa	stomach

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