Variant report

Variant	nsv983270
Chromosome Location	chr12:8342259-8362239
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:8350414-8350907	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr12:8350634-8350826	K562	blood:	n/a	n/a
3	CEBPB	chr12:8350554-8350655	A549	lung:	n/a	n/a
4	CEBPB	chr12:8350546-8350745	K562	blood:	n/a	n/a
5	CEBPB	chr12:8350455-8350821	HCT-116	colon:	n/a	n/a
6	CEBPB	chr12:8350339-8350909	IMR90	lung:	n/a	n/a
7	CTCF	chr12:8348280-8348430	AG04449	skin:	n/a	n/a
8	CTCF	chr12:8348280-8348430	AG09309	skin:	n/a	n/a
9	CTCF	chr12:8352660-8352810	GM12864	blood:	n/a	chr12:8352744-8352762 chr12:8352739-8352760
10	CTCF	chr12:8352680-8352830	GM06990	blood:	n/a	chr12:8352744-8352762 chr12:8352739-8352760
11	CTCF	chr12:8352640-8352790	HepG2	liver:	n/a	chr12:8352744-8352762 chr12:8352739-8352760
12	CTCF	chr12:8352665-8352829	K562	blood:	n/a	chr12:8352744-8352762 chr12:8352739-8352760
13	CTCF	chr12:8350760-8350979	K562	blood:	n/a	n/a
14	CTCF	chr12:8348220-8348370	HL-60	blood:	n/a	n/a
15	CTCF	chr12:8352740-8352890	HBMEC	blood vessel:	n/a	chr12:8352744-8352762
16	CTCF	chr12:8352700-8352850	HCPEpiC	choroid plexus:	n/a	chr12:8352744-8352762 chr12:8352739-8352760
17	CTCF	chr12:8348280-8348430	HMF	breast:	n/a	n/a
18	CTCF	chr12:8348320-8348470	HVMF	connective:	n/a	n/a
19	CTCF	chr12:8352640-8352790	AoAF	blood vessel:	n/a	chr12:8352744-8352762 chr12:8352739-8352760
20	CTCF	chr12:8348460-8348610	GM12873	blood:	n/a	n/a
21	CTCF	chr12:8352680-8352830	SK-N-SH_RA	brain:	n/a	chr12:8352744-8352762 chr12:8352739-8352760
22	CTCF	chr12:8348240-8348390	GM12869	blood:	n/a	n/a
23	CTCF	chr12:8352582-8352817	A549	lung:	n/a	chr12:8352744-8352762 chr12:8352739-8352760
24	CTCF	chr12:8352680-8352830	HA-sp	spinal cord:	n/a	chr12:8352744-8352762 chr12:8352739-8352760
25	CTCF	chr12:8348260-8348410	A549	lung:	n/a	n/a
26	CTCF	chr12:8348300-8348450	GM12873	blood:	n/a	n/a
27	CTCF	chr12:8348300-8348450	GM12864	blood:	n/a	n/a
28	CTCF	chr12:8348300-8348450	HPAF	blood vessel:	n/a	n/a
29	CTCF	chr12:8352680-8352830	GM12875	blood:	n/a	chr12:8352744-8352762 chr12:8352739-8352760
30	CTCF	chr12:8350860-8351010	HMEC	breast:	n/a	n/a
31	CTCF	chr12:8352740-8352890	GM12873	blood:	n/a	chr12:8352744-8352762
32	CTCF	chr12:8350620-8350770	HCPEpiC	choroid plexus:	n/a	n/a
33	CTCF	chr12:8352600-8352750	AG04449	skin:	n/a	n/a
34	CTCF	chr12:8348220-8348370	HCT-116	colon:	n/a	n/a
35	CTCF	chr12:8352700-8352850	AG04449	skin:	n/a	chr12:8352744-8352762 chr12:8352739-8352760
36	CTCF	chr12:8352700-8352850	GM12873	blood:	n/a	chr12:8352744-8352762 chr12:8352739-8352760
37	CTCF	chr12:8348240-8348390	AG04450	lung:	n/a	n/a
38	CTCF	chr12:8350759-8351025	K562	blood:	n/a	n/a
39	CTCF	chr12:8347493-8347518	GM10248	blood:	n/a	n/a
40	CTCF	chr12:8352700-8352850	HEK293	kidney:	n/a	chr12:8352744-8352762 chr12:8352739-8352760
41	CTCF	chr12:8348340-8348490	A549	lung:	n/a	n/a
42	CTCF	chr12:8352640-8352790	GM12867	blood:	n/a	chr12:8352744-8352762 chr12:8352739-8352760
43	CTCF	chr12:8352733-8352767	GM12878	blood:	n/a	chr12:8352744-8352762 chr12:8352739-8352760
44	CTCF	chr12:8352700-8352850	HAc	cerebellar:	n/a	chr12:8352744-8352762 chr12:8352739-8352760
45	CTCF	chr12:8348280-8348430	Caco-2	colon:	n/a	n/a
46	CTCF	chr12:8348300-8348450	HRPEpiC	eye:	n/a	n/a
47	CTCF	chr12:8348320-8348470	HBMEC	blood vessel:	n/a	n/a
48	CTCF	chr12:8352680-8352830	AG04450	lung:	n/a	chr12:8352744-8352762 chr12:8352739-8352760
49	CTCF	chr12:8352700-8352850	GM12866	blood:	n/a	chr12:8352744-8352762 chr12:8352739-8352760
50	CTCF	chr12:8348240-8348390	HRE	kidney:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF705A-1	chr12:8346895-8346923	ENSG00000226711.2
2	lnc-ZNF705A-1	chr12:8347325-8347392	ENSG00000226711.2
3	lnc-FAM90A1-2	chr12:8352195-8352416	NONHSAT026302
4	lnc-ZNF705A-1	chr12:8346127-8346251	ENSG00000226711.2
5	lnc-ZNF705A-1	chr12:8346799-8347077	ENSG00000226711.2
6	lnc-ZNF705A-1	chr12:8347873-8348008	ENSG00000226711.2
7	lnc-FAM90A1-2	chr12:8359252-8359306	NONHSAT026302
8	lnc-ZNF705A-1	chr12:8347325-8347392	ENSG00000226711.2
9	lnc-ZNF705A-1	chr12:8346799-8347077	NONHSAT026297
10	lnc-ZNF705A-1	chr12:8348853-8349114	ENSG00000226711.2
11	lnc-ZNF705A-1	chr12:8347026-8347077	ENSG00000226711.2
12	lnc-ZNF705A-1	chr12:8347325-8347392	ENSG00000226711.2
13	lnc-ZNF705A-1	chr12:8347529-8347872	ENSG00000226711.2
14	lnc-ZNF705A-1	chr12:8347873-8348248	ENSG00000226711.2
15	lnc-ZNF705A-1	chr12:8347016-8347077	ENSG00000226711.2
16	lnc-ZNF705A-1	chr12:8346800-8347077	ENSG00000226711.2
17	lnc-ZNF705A-1	chr12:8347325-8347392	ENSG00000226711.2
18	lnc-ZNF705A-1	chr12:8347016-8347077	ENSG00000226711.2
19	lnc-ZNF705A-1	chr12:8356654-8356724	ENSG00000226711.2
20	lnc-ZNF705A-1	chr12:8356654-8356771	ENSG00000226711.2
21	lnc-ZNF705A-1	chr12:8348853-8349114	ENSG00000226711.2

Variant related genes	Relation type
ENSG00000244050	TF binding region
FAM66C	TF binding region

Extended variants
information (count: 669 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:669 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10840953	chr12:8342309-8342310	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs145301774	chr12:8342403-8342404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144975757	chr12:8342416-8342417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573681665	chr12:8342486-8342487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11043860	chr12:8342492-8342493	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs111721992	chr12:8342542-8342543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553247957	chr12:8342551-8342552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11043861	chr12:8342564-8342565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573160211	chr12:8342649-8342650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142310546	chr12:8342653-8342654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11043862	chr12:8342703-8342704	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs540745463	chr12:8342845-8342846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7350570	chr12:8342863-8342864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140488304	chr12:8342889-8342890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575812428	chr12:8343066-8343067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376483366	chr12:8343106-8343107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7350621	chr12:8343188-8343189	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs202240775	chr12:8343203-8343204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146633869	chr12:8343225-8343226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145165141	chr12:8343303-8343304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528895700	chr12:8343341-8343342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192566409	chr12:8343382-8343383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549037580	chr12:8343387-8343388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184412529	chr12:8343414-8343415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189360051	chr12:8343653-8343654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559397403	chr12:8343714-8343715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138878129	chr12:8343773-8343774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs57113053	chr12:8343778-8343779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375277652	chr12:8343791-8343792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4451793	chr12:8343911-8343912	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181856860	chr12:8343919-8343920	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143066656	chr12:8343940-8343941	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79590732	chr12:8343958-8343959	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4627150	chr12:8343961-8343962	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs185073175	chr12:8344112-8344113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375932639	chr12:8344182-8344183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369236875	chr12:8344233-8344234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148231794	chr12:8344249-8344250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551674061	chr12:8344430-8344431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189059646	chr12:8344431-8344432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181728221	chr12:8344459-8344460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186337677	chr12:8344500-8344501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11043877	chr12:8344748-8344749	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs375314805	chr12:8344803-8344804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191239232	chr12:8344823-8344824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs180758527	chr12:8344828-8344829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185856035	chr12:8344856-8344857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189840650	chr12:8345002-8345003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4883079	chr12:8345075-8345076	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs71256443	chr12:8345145-8345146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
early-passage human iPS cells	21368824	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8333400-8379800	Weak transcription	Brain Substantia Nigra	brain
2	chr12:8333800-8352200	Weak transcription	Brain Hippocampus Middle	brain
3	chr12:8334200-8347600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:8334200-8352400	Weak transcription	Fetal Stomach	stomach
5	chr12:8334600-8349000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:8335000-8350000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:8335200-8379800	Weak transcription	Brain Angular Gyrus	brain
8	chr12:8338800-8351200	Weak transcription	Brain Germinal Matrix	brain
9	chr12:8340400-8343800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:8341600-8346800	Weak transcription	Brain Anterior Caudate	brain
11	chr12:8343800-8344000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:8344000-8347200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:8345000-8352000	Weak transcription	Adipose Nuclei	Adipose
14	chr12:8345200-8347600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr12:8345400-8349400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:8345600-8350000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr12:8346600-8347000	Enhancers	Brain Cingulate Gyrus	brain
18	chr12:8346600-8349800	Weak transcription	Left Ventricle	heart
19	chr12:8346800-8347000	Enhancers	Brain Anterior Caudate	brain
20	chr12:8347000-8347600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr12:8347000-8350800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr12:8347000-8379800	Weak transcription	Brain Anterior Caudate	brain
23	chr12:8347200-8348600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:8347400-8350600	Weak transcription	Ovary	ovary
25	chr12:8347600-8348000	Strong transcription	Brain Cingulate Gyrus	brain
26	chr12:8347600-8348000	Strong transcription	Stomach Smooth Muscle	stomach
27	chr12:8347600-8349400	Strong transcription	Brain Inferior Temporal Lobe	brain
28	chr12:8347600-8350000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:8347600-8350800	Weak transcription	Colon Smooth Muscle	Colon
30	chr12:8348000-8349000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr12:8348000-8349000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr12:8348200-8359000	Weak transcription	Fetal Brain Female	brain
33	chr12:8348600-8351800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:8348800-8351800	Weak transcription	Aorta	Aorta
35	chr12:8349000-8349600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr12:8349000-8350600	Strong transcription	Brain Cingulate Gyrus	brain
37	chr12:8349000-8350600	Strong transcription	Stomach Smooth Muscle	stomach
38	chr12:8349400-8390000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr12:8349600-8379600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr12:8350000-8350400	Enhancers	HSMM	muscle
41	chr12:8350000-8350400	Enhancers	HSMMtube	muscle
42	chr12:8350000-8350400	Enhancers	NHLF	lung
43	chr12:8350000-8350600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr12:8350000-8351000	Enhancers	NHDF-Ad	bronchial
45	chr12:8350000-8351000	Enhancers	Osteobl	bone
46	chr12:8350000-8351200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:8350000-8351200	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr12:8350000-8351600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:8350200-8350600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:8350200-8350600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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