Variant report

Variant	esv18415
Chromosome Location	chr12:866732-874998
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	chr12:862748..867412-chr12:867871..873426,6	K562	blood:
2	chr12:864121..866273-chr12:867871..870258,2	K562	blood:
3	chr12:867638..869974-chr12:870964..872822,2	K562	blood:
4	chr12:862748..867412-chr12:867871..873426,6	K562	blood:
5	chr12:858790..861699-chr12:870992..873821,2	K562	blood:
6	chr12:824399..827215-chr12:865443..868265,2	K562	blood:
7	chr12:869508..871876-chr12:1056862..1059672,2	MCF-7	breast:
8	chr12:749727..757562-chr12:858273..868886,17	MCF-7	breast:
9	chr12:678017..679838-chr12:873854..876600,2	K562	blood:
10	chr12:867638..869974-chr12:870964..872822,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000171840	chromatin interactions
ENSG00000002016	chromatin interactions
ENSG00000177406	chromatin interactions

Extended variants
information (count: 274 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540471596	chr12:866805-866806	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs368069276	chr12:866829-866830	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs578017018	chr12:866926-866927	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs189884679	chr12:866930-866931	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs539583234	chr12:866946-866947	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs371946414	chr12:866960-866961	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs557927932	chr12:866969-866970	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs544881710	chr12:866971-866972	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs567217627	chr12:866975-866976	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs192686986	chr12:866977-866978	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs7975272	chr12:867023-867024	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs184679849	chr12:867028-867029	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs573989952	chr12:867067-867068	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs202236945	chr12:867202-867203	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs71051381	chr12:867217-867218	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs544186590	chr12:867226-867227	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs553926609	chr12:867263-867264	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs556234930	chr12:867275-867276	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs577810622	chr12:867324-867325	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs545153374	chr12:867353-867354	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs564686033	chr12:867358-867359	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs188207550	chr12:867392-867393	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs540843285	chr12:867396-867397	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs182036896	chr12:867411-867412	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs529550546	chr12:867435-867436	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs550550619	chr12:867486-867487	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs186478327	chr12:867495-867496	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs146414279	chr12:867502-867503	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs551551638	chr12:867512-867513	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs397957357	chr12:867564-867565	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs6489747	chr12:867591-867592	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs533705220	chr12:867620-867621	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs563115902	chr12:867655-867656	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs7959054	chr12:867708-867709	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs181881729	chr12:867710-867711	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs7959060	chr12:867714-867715	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs577747602	chr12:867718-867719	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs543417378	chr12:867733-867734	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs538643418	chr12:867743-867744	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs553557677	chr12:867744-867745	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs572109565	chr12:867769-867770	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs540428921	chr12:867777-867778	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs541539832	chr12:867812-867813	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs80207436	chr12:867813-867814	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs530731041	chr12:867860-867861	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs61916728	chr12:867891-867892	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs544184885	chr12:867892-867893	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs529346709	chr12:867902-867903	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs76320605	chr12:867915-867916	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs191581784	chr12:867939-867940	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Autism	22495311	CNVD

Chromatin state (count:461 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:860000-867400	Active TSS	Right Atrium	heart
2	chr12:860000-867600	Active TSS	Right Ventricle	heart
3	chr12:860200-866800	Active TSS	Psoas Muscle	Psoas
4	chr12:861400-866800	Active TSS	HSMM	muscle
5	chr12:863800-876600	Weak transcription	Spleen	Spleen
6	chr12:864400-872000	Weak transcription	Gastric	stomach
7	chr12:864400-883200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:864600-872200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:864600-875400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:864600-884600	Weak transcription	Aorta	Aorta
11	chr12:864800-868000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr12:865000-867000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
13	chr12:865200-866800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:865200-866800	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr12:865200-867200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr12:865200-871400	Weak transcription	Left Ventricle	heart
17	chr12:865200-871600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr12:865200-872200	Weak transcription	Esophagus	oesophagus
19	chr12:865200-872800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr12:865200-874400	Weak transcription	Ovary	ovary
21	chr12:865200-883200	Weak transcription	Placenta	Placenta
22	chr12:865200-884600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:865200-884600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:865200-884600	Weak transcription	Lung	lung
25	chr12:865200-895600	Weak transcription	Pancreas	Pancrea
26	chr12:865400-867000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr12:865400-871200	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr12:865400-873600	Weak transcription	Fetal Kidney	kidney
29	chr12:865600-866800	Enhancers	Placenta Amnion	Placenta Amnion
30	chr12:865800-866800	Enhancers	Primary B cells from cord blood	blood
31	chr12:865800-866800	Enhancers	Brain Cingulate Gyrus	brain
32	chr12:865800-867000	Enhancers	Stomach Mucosa	stomach
33	chr12:865800-868600	Weak transcription	Fetal Thymus	thymus
34	chr12:865800-869400	Enhancers	Fetal Brain Male	brain
35	chr12:865800-871000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:866000-868600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr12:866000-871400	Weak transcription	Fetal Intestine Small	intestine
38	chr12:866000-872400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr12:866000-873200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr12:866000-883400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr12:866000-889200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr12:866200-866800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:866200-866800	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr12:866200-866800	Enhancers	Brain Substantia Nigra	brain
45	chr12:866200-866800	Enhancers	Fetal Intestine Large	intestine
46	chr12:866200-866800	Active TSS	Rectal Smooth Muscle	rectum
47	chr12:866200-866800	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr12:866200-867000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr12:866200-867000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:866200-867000	Enhancers	Small Intestine	intestine

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