Variant report

Variant	nsv899008
Chromosome Location	chr12:38692547-38792348
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1361)
CpG islands
(count:794)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1361 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:38710113-38710696	HepG2	liver:	n/a	chr12:38710204-38710220 chr12:38710205-38710221
2	ARID3A	chr12:38778647-38778789	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:38722185-38722490	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:38710301-38710555	K562	blood:	n/a	n/a
5	ARID3A	chr12:38722213-38722403	K562	blood:	n/a	n/a
6	ATF1	chr12:38710296-38710661	K562	blood:	n/a	n/a
7	ATF2	chr12:38710293-38710713	GM12878	blood:	n/a	n/a
8	ATF2	chr12:38744101-38745067	GM12878	blood:	n/a	n/a
9	ATF2	chr12:38710159-38710775	GM12878	blood:	n/a	n/a
10	ATF2	chr12:38744225-38745089	GM12878	blood:	n/a	n/a
11	ATF3	chr12:38710219-38710780	A549	lung:	n/a	n/a
12	ATF3	chr12:38710223-38710780	A549	lung:	n/a	n/a
13	BACH1	chr12:38778825-38779049	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr12:38722036-38722207	H1-hESC	embryonic stem cell:	n/a	n/a
15	BATF	chr12:38786453-38786734	GM12878	blood:	n/a	chr12:38786626-38786637
16	BATF	chr12:38710371-38710641	GM12878	blood:	n/a	n/a
17	BATF	chr12:38780253-38780450	GM12878	blood:	n/a	chr12:38780343-38780354
18	BATF	chr12:38744451-38744982	GM12878	blood:	n/a	n/a
19	BATF	chr12:38744388-38744934	GM12878	blood:	n/a	n/a
20	BATF	chr12:38710378-38710679	GM12878	blood:	n/a	n/a
21	BCL11A	chr12:38744417-38744818	GM12878	blood:	n/a	n/a
22	BCL11A	chr12:38710258-38710721	GM12878	blood:	n/a	n/a
23	BCL11A	chr12:38744355-38744996	GM12878	blood:	n/a	n/a
24	BCL3	chr12:38744447-38744862	GM12878	blood:	n/a	n/a
25	BCL3	chr12:38710209-38710812	A549	lung:	n/a	n/a
26	BCL3	chr12:38710141-38710775	A549	lung:	n/a	n/a
27	BCLAF1	chr12:38710352-38710785	K562	blood:	n/a	n/a
28	BCLAF1	chr12:38710117-38710847	GM12878	blood:	n/a	n/a
29	BCLAF1	chr12:38710098-38710795	GM12878	blood:	n/a	n/a
30	BCLAF1	chr12:38744312-38744895	GM12878	blood:	n/a	n/a
31	BHLHE40	chr12:38722157-38722342	GM12878	blood:	n/a	n/a
32	BHLHE40	chr12:38710353-38710663	HepG2	liver:	n/a	n/a
33	BHLHE40	chr12:38710156-38710702	GM12878	blood:	n/a	n/a
34	BHLHE40	chr12:38710409-38710609	K562	blood:	n/a	n/a
35	BRCA1	chr12:38778630-38780749	Hela-S3	cervix:	n/a	n/a
36	BRCA1	chr12:38710312-38710651	H1-hESC	embryonic stem cell:	n/a	n/a
37	BRCA1	chr12:38718322-38719076	Hela-S3	cervix:	n/a	n/a
38	BRCA1	chr12:38709964-38710766	Hela-S3	cervix:	n/a	n/a
39	BRCA1	chr12:38710387-38710653	HepG2	liver:	n/a	n/a
40	BRCA1	chr12:38784805-38785325	Hela-S3	cervix:	n/a	n/a
41	BRCA1	chr12:38710358-38710669	GM12878	blood:	n/a	n/a
42	BRCA1	chr12:38786266-38787092	Hela-S3	cervix:	n/a	n/a
43	CBX3	chr12:38710156-38710688	K562	blood:	n/a	n/a
44	CBX3	chr12:38710189-38710797	HCT-116	colon:	n/a	n/a
45	CBX3	chr12:38710216-38710780	HCT-116	colon:	n/a	n/a
46	CBX3	chr12:38710362-38710671	K562	blood:	n/a	n/a
47	CEBPB	chr12:38710315-38710609	K562	blood:	n/a	n/a
48	CEBPB	chr12:38722287-38722974	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr12:38786357-38786736	A549	lung:	n/a	chr12:38786571-38786582 chr12:38786571-38786582 chr12:38786571-38786584
50	CEBPB	chr12:38710325-38710629	A549	lung:	n/a	n/a

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:38710433-38710483	HL-60	blood:	n/a
2	chr12:38710433-38710483	HL-60	blood:	n/a
3	chr12:38714149-38714199	U87	brain:	n/a
4	chr12:38724551-38724601	HCT-116	colon:	n/a
5	chr12:38710504-38710554	ECC-1	luminal epithelium:	n/a
6	chr12:38710504-38710554	HRPEpiC	eye:	n/a
7	chr12:38714149-38714199	NHBE	bronchial:	n/a
8	chr12:38710953-38711003	HEEpiC	esophagus:	n/a
9	chr12:38714149-38714199	HCT-116	colon:	n/a
10	chr12:38710504-38710554	SK-N-SH	brain:	n/a
11	chr12:38710452-38710502	PFSK-1	brain:	n/a
12	chr12:38710491-38710541	H1-hESC	embryonic stem cell:	embryo
13	chr12:38710953-38711003	ovcar-3	ovarian:	n/a
14	chr12:38710424-38710474	NHDF-neo	bronchial:	n/a
15	chr12:38710606-38710656	PFSK-1	brain:	n/a
16	chr12:38710504-38710554	HRCEpiC	kidney:	n/a
17	chr12:38710604-38710654	BE2_C	brain:	n/a
18	chr12:38710154-38710204	NB4	blood:	n/a
19	chr12:38714149-38714199	GM19239	blood:	n/a
20	chr12:38710154-38710204	AoSMC	blood vessel:	n/a
21	chr12:38710700-38710750	AG09319	gingival:	n/a
22	chr12:38710154-38710204	HCT-116	colon:	n/a
23	chr12:38710504-38710554	HL-60	blood:	n/a
24	chr12:38710953-38711003	HEK293	kidney:	embryo
25	chr12:38710433-38710483	HMEC	breast:	n/a
26	chr12:38710700-38710750	PANC-1	pancreas:	n/a
27	chr12:38710606-38710656	CMK	blood:	n/a
28	chr12:38714149-38714199	PFSK-1	brain:	n/a
29	chr12:38710606-38710656	GM12891	blood:	n/a
30	chr12:38710154-38710204	HAEpiC	amniotic membrane:	n/a
31	chr12:38710452-38710502	AG09319	gingival:	n/a
32	chr12:38710408-38710458	NHBE	bronchial:	n/a
33	chr12:38724551-38724601	HUVEC	blood vessel:	n/a
34	chr12:38710154-38710204	GM12892	blood:	n/a
35	chr12:38710433-38710483	IMR90	lung:	fetal
36	chr12:38710154-38710204	HEK293	kidney:	embryo
37	chr12:38710491-38710541	SK-N-MC	brain:	n/a
38	chr12:38710700-38710750	GM06990	blood:	n/a
39	chr12:38710433-38710483	HAEpiC	amniotic membrane:	n/a
40	chr12:38710433-38710483	SK-N-SH	brain:	n/a
41	chr12:38710433-38710483	HepG2	liver:	n/a
42	chr12:38710700-38710750	HEK293	kidney:	embryo
43	chr12:38710504-38710554	AG09309	skin:	n/a
44	chr12:38710433-38710483	HEK293	kidney:	embryo
45	chr12:38710604-38710654	HEK293	kidney:	embryo
46	chr12:38710408-38710458	SK-N-SH	brain:	n/a
47	chr12:38710408-38710458	HRCEpiC	kidney:	n/a
48	chr12:38710953-38711003	ECC-1	luminal epithelium:	n/a
49	chr12:38714149-38714199	HMEC	breast:	n/a
50	chr12:38724551-38724601	A549	lung:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:34175001..34175865-chr12:38710413..38711151,3	HCT-116	colon:
2	chr12:38721916..38722780-chr12:39497511..39498068,2	MCF-7	breast:
3	chr12:38721798..38722714-chr12:39305427..39306254,2	MCF-7	breast:
4	chr12:38778961..38781578-chr12:38784417..38786236,2	MCF-7	breast:
5	chr12:38764399..38764899-chr18:71815043..71815544,2	Hela-S3	cervix:
6	chr12:38778961..38781578-chr12:38784417..38786236,2	MCF-7	breast:
7	chr12:38722084..38722866-chr12:39667246..39667987,2	MCF-7	breast:

No data

Variant related genes	Relation type
ALG10B	TF binding region
ENSG00000266333	TF binding region
ALG10B	CpG island
ENSG00000266333	CpG island
ENSG00000139133	chromatin interactions
ENSG00000141665	chromatin interactions

Extended variants
information (count: 2621 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:2621 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1825806	chr12:38692547-38692548	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs550743088	chr12:38692550-38692551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141404978	chr12:38692602-38692603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11504504	chr12:38692633-38692634	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs546862122	chr12:38692660-38692661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574671993	chr12:38692689-38692690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371942167	chr12:38692723-38692724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1586444	chr12:38692735-38692736	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs189752705	chr12:38692761-38692762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549497144	chr12:38692772-38692773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569248813	chr12:38692774-38692775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538065753	chr12:38692798-38692799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74086290	chr12:38692865-38692866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541463890	chr12:38692866-38692867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375386892	chr12:38692875-38692876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557967413	chr12:38692881-38692882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577876285	chr12:38692884-38692885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139410440	chr12:38692900-38692901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11183214	chr12:38692938-38692939	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs573588603	chr12:38692945-38692946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs56265088	chr12:38692978-38692979	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs144119512	chr12:38692979-38692980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181686413	chr12:38693100-38693101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544671704	chr12:38693102-38693103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11183215	chr12:38693127-38693128	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs184292004	chr12:38693154-38693155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10880861	chr12:38693159-38693160	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs189357521	chr12:38693219-38693220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529335542	chr12:38693234-38693235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181730459	chr12:38693253-38693254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569367260	chr12:38693277-38693278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11559968	chr12:38693279-38693280	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs571468985	chr12:38693304-38693305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533930818	chr12:38693305-38693306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554074074	chr12:38693307-38693308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370814394	chr12:38693364-38693365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536281866	chr12:38693371-38693372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs386762264	chr12:38693396-38693397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs57363578	chr12:38693398-38693399	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs186167985	chr12:38693412-38693413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558191217	chr12:38693455-38693456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536162307	chr12:38693457-38693458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577856802	chr12:38693462-38693463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540425189	chr12:38693500-38693501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551246676	chr12:38693523-38693524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371296900	chr12:38693535-38693536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554999426	chr12:38693612-38693613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560867539	chr12:38693706-38693707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569294696	chr12:38693762-38693763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539806688	chr12:38693937-38693938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Osteosarcoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Cancer	20164920	CNVD

Chromatin state (count:509 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:38683600-38696200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:38696200-38696600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:38701000-38701200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:38709400-38709800	Enhancers	HUVEC	blood vessel
5	chr12:38709400-38710000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:38709600-38709800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr12:38709600-38709800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:38709600-38709800	Enhancers	Adipose Nuclei	Adipose
9	chr12:38709600-38709800	Enhancers	Brain Anterior Caudate	brain
10	chr12:38709600-38709800	Enhancers	Brain Hippocampus Middle	brain
11	chr12:38709600-38709800	Enhancers	NHDF-Ad	bronchial
12	chr12:38709600-38710000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr12:38709600-38710000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:38709600-38710000	Enhancers	Dnd41	blood
15	chr12:38709600-38710000	Enhancers	Hela-S3	cervix
16	chr12:38709600-38710800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:38709800-38710000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr12:38709800-38710000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr12:38709800-38710000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr12:38709800-38710000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:38709800-38710000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr12:38709800-38710000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr12:38709800-38710000	Enhancers	Liver	Liver
24	chr12:38709800-38710000	Enhancers	Brain Cingulate Gyrus	brain
25	chr12:38709800-38710000	Flanking Active TSS	Brain Hippocampus Middle	brain
26	chr12:38709800-38710000	Enhancers	Fetal Lung	lung
27	chr12:38709800-38710000	Enhancers	HMEC	breast
28	chr12:38709800-38710000	Active TSS	HUVEC	blood vessel
29	chr12:38709800-38710200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr12:38709800-38710200	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr12:38709800-38710200	Flanking Active TSS	Brain Anterior Caudate	brain
32	chr12:38709800-38710400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr12:38709800-38710600	Active TSS	Primary hematopoietic stem cells	blood
34	chr12:38709800-38711000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:38709800-38711000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:38709800-38711000	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr12:38709800-38711000	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr12:38709800-38711000	Active TSS	Fetal Brain Male	brain
39	chr12:38709800-38711000	Active TSS	Thymus	Thymus
40	chr12:38709800-38711000	Active TSS	Osteobl	bone
41	chr12:38709800-38711200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:38709800-38711200	Active TSS	Brain Angular Gyrus	brain
43	chr12:38709800-38711200	Active TSS	Rectal Mucosa Donor 31	rectum
44	chr12:38709800-38711200	Active TSS	Stomach Smooth Muscle	stomach
45	chr12:38709800-38711200	Active TSS	NHLF	lung
46	chr12:38709800-38711400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr12:38709800-38711400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr12:38709800-38711400	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr12:38709800-38711400	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr12:38709800-38711400	Active TSS	Right Atrium	heart

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