Variant report

Variant	nsv1036408
Chromosome Location	chr12:7782625-7812010
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:7770501..7771317-chr12:7790977..7791858,2	MCF-7	breast:
2	chr12:7785661..7787296-chr12:7958245..7961143,2	K562	blood:
3	chr12:7737260..7737767-chr12:7791332..7791965,2	K562	blood:
4	chr12:7052745..7054804-chr12:7789999..7792539,2	K562	blood:
5	chr12:7797730..7798285-chr12:7959327..7960129,2	MCF-7	breast:
6	chr12:7052361..7055203-chr12:7790062..7793106,4	MCF-7	breast:
7	chr12:7294785..7295337-chr12:7791387..7791900,2	K562	blood:
8	chr12:7371612..7372892-chr12:7790964..7791617,4	K562	blood:
9	chr12:7770562..7771464-chr12:7790685..7791995,3	MCF-7	breast:
10	chr12:7371937..7372879-chr12:7790988..7791868,4	MCF-7	breast:
11	chr12:7527269..7527851-chr12:7790980..7791613,2	MCF-7	breast:
12	chr12:7741041..7741545-chr12:7790979..7791656,2	MCF-7	breast:
13	chr12:7368777..7371276-chr12:7789054..7791793,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272173	chromatin interactions
ENSG00000111678	chromatin interactions
ENSG00000238923	chromatin interactions

Extended variants
information (count: 855 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:855 , 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	rs10845561	chr12:7782625-7782626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs76703876	chr12:7782691-7782692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs117996732	chr12:7782802-7782803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150354206	chr12:7782803-7782804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12312857	chr12:7782818-7782819	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs145226278	chr12:7782928-7782929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149166024	chr12:7782946-7782947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146356345	chr12:7782963-7782964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575320295	chr12:7783051-7783052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10845566	chr12:7783149-7783150	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs111280497	chr12:7783171-7783172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189623294	chr12:7783174-7783175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11054944	chr12:7783201-7783202	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs78218504	chr12:7783329-7783330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182316732	chr12:7783494-7783495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78928858	chr12:7783579-7783580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs80133048	chr12:7783580-7783581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372636899	chr12:7783587-7783588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs398018306	chr12:7783590-7783591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12811999	chr12:7783591-7783592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12827153	chr12:7783592-7783593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139081978	chr12:7783601-7783602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567654085	chr12:7783722-7783723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141844990	chr12:7783725-7783726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115700308	chr12:7783726-7783727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113248710	chr12:7783742-7783743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144790802	chr12:7783793-7783794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12424996	chr12:7783821-7783822	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs61936980	chr12:7783867-7783868	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs188642893	chr12:7783871-7783872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192386931	chr12:7783875-7783876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141925269	chr12:7783920-7783921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183239994	chr12:7783928-7783929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150668968	chr12:7783976-7783977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61936981	chr12:7784011-7784012	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs137957382	chr12:7784081-7784082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529526079	chr12:7784114-7784115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188706509	chr12:7784119-7784120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192324588	chr12:7784166-7784167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149495984	chr12:7784177-7784178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184174672	chr12:7784270-7784271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187285639	chr12:7784322-7784323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145936481	chr12:7784336-7784337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191283278	chr12:7784373-7784374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184553781	chr12:7784396-7784397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373434195	chr12:7784398-7784399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190189491	chr12:7784401-7784402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542265778	chr12:7784416-7784417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377471512	chr12:7784506-7784507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11054951	chr12:7784507-7784508	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	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
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Nasopharyngeal cancer	20548289	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:473 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:7775600-7791600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:7782600-7782800	Enhancers	H9 Cell Line	embryonic stem cell
3	chr12:7782600-7785600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:7785600-7786000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:7786000-7790600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:7787200-7787400	Enhancers	Primary hematopoietic stem cells	blood
7	chr12:7787200-7787800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr12:7787200-7788000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:7787400-7788000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:7787400-7790400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:7787800-7791800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr12:7788000-7790200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:7788000-7790400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:7788800-7789600	Enhancers	Fetal Intestine Large	intestine
15	chr12:7789600-7791000	Weak transcription	Fetal Intestine Large	intestine
16	chr12:7789800-7790200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr12:7789800-7790200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr12:7789800-7790200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr12:7789800-7790600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:7790000-7790200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr12:7790000-7790400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr12:7790000-7790400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr12:7790000-7790400	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr12:7790200-7790400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr12:7790200-7790400	Enhancers	H1 Cell Line	embryonic stem cell
26	chr12:7790200-7790400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:7790200-7790400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:7790200-7790800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr12:7790200-7790800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr12:7790200-7790800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr12:7790400-7790600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
32	chr12:7790400-7790600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr12:7790400-7790600	Enhancers	Primary hematopoietic stem cells	blood
34	chr12:7790400-7790600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:7790400-7790600	Enhancers	Brain Germinal Matrix	brain
36	chr12:7790400-7790600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr12:7790400-7790800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:7790400-7790800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr12:7790400-7790800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr12:7790400-7790800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr12:7790400-7791000	Enhancers	Gastric	stomach
42	chr12:7790400-7791400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr12:7790400-7792400	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr12:7790400-7792400	Active TSS	H9 Cell Line	embryonic stem cell
45	chr12:7790400-7792400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:7790600-7790800	Active TSS	H1 Cell Line	embryonic stem cell
47	chr12:7790600-7790800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr12:7790600-7790800	Enhancers	Duodenum Mucosa	Duodenum
49	chr12:7790600-7790800	Enhancers	Thymus	Thymus
50	chr12:7790600-7790800	Enhancers	Monocytes-CD14+_RO01746	blood

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