Variant report

Variant	nsv8888
Chromosome Location	chr12:866355-875133
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	chr12:824399..827215-chr12:865443..868265,2	K562	blood:
2	chr12:867638..869974-chr12:870964..872822,2	K562	blood:
3	chr12:869508..871876-chr12:1056862..1059672,2	MCF-7	breast:
4	chr12:749727..757562-chr12:858273..868886,17	MCF-7	breast:
5	chr12:864121..866273-chr12:867871..870258,2	K562	blood:
6	chr12:678017..679838-chr12:873854..876600,2	K562	blood:
7	chr12:862748..867412-chr12:867871..873426,6	K562	blood:
8	chr12:867638..869974-chr12:870964..872822,2	K562	blood:
9	chr12:862748..867412-chr12:867871..873426,6	K562	blood:
10	chr12:858790..861699-chr12:870992..873821,2	K562	blood:

No data

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

Extended variants
information (count: 302 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:302 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539197761	chr12:866398-866399	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs557676086	chr12:866408-866409	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs534187062	chr12:866423-866424	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs376154548	chr12:866475-866476	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs7963878	chr12:866499-866500	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs368419754	chr12:866500-866501	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs10774456	chr12:866501-866502	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs386759395	chr12:866518-866519	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs369138312	chr12:866519-866520	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs372419231	chr12:866521-866522	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs372932182	chr12:866524-866525	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs375664295	chr12:866525-866526	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs573525391	chr12:866527-866528	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs544250332	chr12:866529-866530	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs142116382	chr12:866578-866579	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs533070815	chr12:866582-866583	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs569674736	chr12:866590-866591	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs536599119	chr12:866605-866606	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs528758928	chr12:866633-866634	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs150742324	chr12:866636-866637	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs192192373	chr12:866682-866683	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs139128368	chr12:866729-866730	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs184986374	chr12:866730-866731	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	rs184679849	chr12:867028-867029	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs573989952	chr12:867067-867068	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs202236945	chr12:867202-867203	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs71051381	chr12:867217-867218	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs544186590	chr12:867226-867227	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs553926609	chr12:867263-867264	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs556234930	chr12:867275-867276	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs577810622	chr12:867324-867325	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs545153374	chr12:867353-867354	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs564686033	chr12:867358-867359	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs188207550	chr12:867392-867393	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs540843285	chr12:867396-867397	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs182036896	chr12:867411-867412	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs529550546	chr12:867435-867436	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs550550619	chr12:867486-867487	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs186478327	chr12:867495-867496	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	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:539 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:859200-866400	Active TSS	K562	blood
2	chr12:860000-867400	Active TSS	Right Atrium	heart
3	chr12:860000-867600	Active TSS	Right Ventricle	heart
4	chr12:860200-866400	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr12:860200-866800	Active TSS	Psoas Muscle	Psoas
6	chr12:861200-866400	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr12:861200-866400	Active TSS	HSMMtube	muscle
8	chr12:861400-866800	Active TSS	HSMM	muscle
9	chr12:862400-866400	Transcr. at gene 5' and 3'	Dnd41	blood
10	chr12:862600-866400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:863000-866400	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr12:863400-866400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr12:863600-866400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:863600-866400	Flanking Active TSS	HUVEC	blood vessel
15	chr12:863600-866400	Active TSS	NHLF	lung
16	chr12:863800-866400	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr12:863800-866400	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr12:863800-876600	Weak transcription	Spleen	Spleen
19	chr12:864400-866400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr12:864400-872000	Weak transcription	Gastric	stomach
21	chr12:864400-883200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:864600-866400	Enhancers	Fetal Lung	lung
23	chr12:864600-872200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr12:864600-875400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:864600-884600	Weak transcription	Aorta	Aorta
26	chr12:864800-866400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr12:864800-866400	Flanking Active TSS	NHEK	skin
28	chr12:864800-868000	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr12:865000-866400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:865000-866400	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr12:865000-866400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr12:865000-866600	Transcr. at gene 5' and 3'	A549	lung
33	chr12:865000-867000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
34	chr12:865200-866400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:865200-866400	Enhancers	Primary hematopoietic stem cells	blood
36	chr12:865200-866400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr12:865200-866400	Flanking Active TSS	Osteobl	bone
38	chr12:865200-866600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr12:865200-866800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr12:865200-866800	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr12:865200-867200	Weak transcription	Primary B cells from peripheral blood	blood
42	chr12:865200-871400	Weak transcription	Left Ventricle	heart
43	chr12:865200-871600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr12:865200-872200	Weak transcription	Esophagus	oesophagus
45	chr12:865200-872800	Weak transcription	Fetal Muscle Trunk	muscle
46	chr12:865200-874400	Weak transcription	Ovary	ovary
47	chr12:865200-883200	Weak transcription	Placenta	Placenta
48	chr12:865200-884600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr12:865200-884600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr12:865200-884600	Weak transcription	Lung	lung

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