Variant report

Variant	nsv983367
Chromosome Location	chr12:119632173-119636306
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:245)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr12:119635410-119635456	K562	blood:	n/a	n/a
2	CTCF	chr12:119633032-119633071	GM10266	blood:	n/a	n/a
3	NFYB	chr12:119634202-119634390	GM12878	blood:	n/a	n/a
4	POLR2A	chr12:119633312-119633583	K562	blood:	n/a	n/a
5	POLR2A	chr12:119633164-119633299	A549	lung:	n/a	n/a
6	POLR2A	chr12:119632964-119633061	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr12:119633983-119634141	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr12:119632993-119633039	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr12:119633386-119633634	GM12891	blood:	n/a	n/a
10	POLR2A	chr12:119632969-119633117	ProgFib	skin:	n/a	n/a
11	POLR2A	chr12:119633522-119633577	A549	lung:	n/a	n/a
12	POLR2A	chr12:119633168-119633305	GM12878	blood:	n/a	n/a
13	POLR2A	chr12:119633083-119633119	K562	blood:	n/a	n/a
14	POLR2A	chr12:119632882-119633302	GM12892	blood:	n/a	n/a
15	POLR2A	chr12:119633559-119633807	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr12:119634046-119634852	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr12:119632890-119633298	GM12878	blood:	n/a	n/a
18	POLR2A	chr12:119632949-119633149	GM12878	blood:	n/a	n/a
19	POLR2A	chr12:119633183-119633343	A549	lung:	n/a	n/a
20	POLR2A	chr12:119636216-119637667	SK-N-MC	brain:	n/a	n/a
21	POLR2A	chr12:119633257-119633479	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr12:119633169-119633300	GM12878	blood:	n/a	n/a
23	POLR2A	chr12:119632797-119633230	GM12892	blood:	n/a	n/a
24	POLR2A	chr12:119632960-119633144	GM12878	blood:	n/a	n/a
25	POLR2A	chr12:119633056-119633070	K562	blood:	n/a	n/a
26	POLR2A	chr12:119632997-119633231	GM12891	blood:	n/a	n/a
27	POLR2A	chr12:119633156-119633299	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr12:119633391-119633491	MCF-7	breast:	n/a	n/a
29	SETDB1	chr12:119633931-119634375	U2OS	brain:	n/a	n/a
30	USF1	chr12:119635123-119635354	H1-hESC	embryonic stem cell:	n/a	n/a
31	USF1	chr12:119635093-119635464	H1-hESC	embryonic stem cell:	n/a	n/a
32	USF2	chr12:119635266-119635566	HepG2	liver:	n/a	n/a
33	YY1	chr12:119634603-119635058	H1-hESC	embryonic stem cell:	n/a	chr12:119634842-119634861 chr12:119634847-119634855 chr12:119634844-119634854

(count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:119632544-119632594	H1-hESC	embryonic stem cell:	embryo
2	chr12:119632544-119632594	H1-hESC	embryonic stem cell:	embryo
3	chr12:119633116-119633166	AG04449	skin:	fetal
4	chr12:119632882-119632932	ECC-1	luminal epithelium:	n/a
5	chr12:119633201-119633251	SK-N-SH	brain:	n/a
6	chr12:119633116-119633166	HMEC	breast:	n/a
7	chr12:119633116-119633166	PANC-1	pancreas:	n/a
8	chr12:119633116-119633166	BJ	skin:	n/a
9	chr12:119632544-119632594	NHBE	bronchial:	n/a
10	chr12:119632882-119632932	MCF10A-Er-Src	breast:	n/a
11	chr12:119633201-119633251	HCPEpiC	choroid plexus:	n/a
12	chr12:119633116-119633166	HAEpiC	amniotic membrane:	n/a
13	chr12:119633201-119633251	Jurkat	blood:	n/a
14	chr12:119632544-119632594	HRCEpiC	kidney:	n/a
15	chr12:119632544-119632594	NB4	blood:	n/a
16	chr12:119632544-119632594	GM12878	blood:	n/a
17	chr12:119633116-119633166	GM06990	blood:	n/a
18	chr12:119632544-119632594	SK-N-SH	brain:	n/a
19	chr12:119633116-119633166	HCPEpiC	choroid plexus:	n/a
20	chr12:119633201-119633251	HAEpiC	amniotic membrane:	n/a
21	chr12:119633201-119633251	GM12891	blood:	n/a
22	chr12:119632882-119632932	AG09319	gingival:	n/a
23	chr12:119632544-119632594	HEEpiC	esophagus:	n/a
24	chr12:119632544-119632594	HEK293	kidney:	embryo
25	chr12:119633116-119633166	HepG2	liver:	n/a
26	chr12:119633116-119633166	A549	lung:	n/a
27	chr12:119632882-119632932	BE2_C	brain:	n/a
28	chr12:119633201-119633251	ProgFib	skin:	n/a
29	chr12:119633116-119633166	ovcar-3	ovarian:	n/a
30	chr12:119632544-119632594	AG09319	gingival:	n/a
31	chr12:119632882-119632932	GM12892	blood:	n/a
32	chr12:119632882-119632932	GM12878	blood:	n/a
33	chr12:119632544-119632594	HAEpiC	amniotic membrane:	n/a
34	chr12:119632544-119632594	NH-A	brain:	n/a
35	chr12:119632882-119632932	SK-N-SH_RA	brain:	n/a
36	chr12:119632882-119632932	Hepatocyte	liver:	n/a
37	chr12:119632882-119632932	T-47D	breast:	n/a
38	chr12:119633116-119633166	HCT-116	colon:	n/a
39	chr12:119633201-119633251	T-47D	breast:	n/a
40	chr12:119633116-119633166	HUVEC	blood vessel:	n/a
41	chr12:119633201-119633251	MCF-7	breast:	n/a
42	chr12:119632882-119632932	BJ	skin:	n/a
43	chr12:119632882-119632932	HAEpiC	amniotic membrane:	n/a
44	chr12:119633201-119633251	SAEC	small airway:	n/a
45	chr12:119633116-119633166	T-47D	breast:	n/a
46	chr12:119633116-119633166	HEEpiC	esophagus:	n/a
47	chr12:119633201-119633251	HUVEC	blood vessel:	n/a
48	chr12:119633201-119633251	AG04449	skin:	fetal
49	chr12:119633201-119633251	SK-N-MC	brain:	n/a
50	chr12:119633201-119633251	AG09319	gingival:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:119634370..119636287-chr12:119638890..119640452,2	MCF-7	breast:
2	chr12:119633765..119636889-chr12:119849565..119852732,3	MCF-7	breast:
3	chr12:119615010..119617058-chr12:119633848..119636832,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000213144	TF binding region
ENSG00000213144	CpG island
ENSG00000152137	chromatin interactions

Extended variants
information (count: 180 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:180 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144367132	chr12:119632177-119632178	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542976355	chr12:119632179-119632180	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540606985	chr12:119632185-119632186	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554177137	chr12:119632235-119632236	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs56754798	chr12:119632244-119632245	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6413487	chr12:119632279-119632280	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11038	chr12:119632307-119632308	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs1133026	chr12:119632347-119632348	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs567748965	chr12:119632370-119632371	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553252167	chr12:119632375-119632376	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564622859	chr12:119632377-119632378	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575723729	chr12:119632379-119632380	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371827618	chr12:119632384-119632385	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564951181	chr12:119632402-119632403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191023007	chr12:119632452-119632453	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567221414	chr12:119632488-119632489	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376121978	chr12:119632508-119632509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371626474	chr12:119632510-119632511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112223147	chr12:119632511-119632512	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529957396	chr12:119632513-119632514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550004882	chr12:119632526-119632527	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555638888	chr12:119632529-119632530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541796243	chr12:119632532-119632533	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs60924821	chr12:119632534-119632535	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183175042	chr12:119632602-119632603	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs143766367	chr12:119632644-119632645	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs558309293	chr12:119632646-119632647	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs542271645	chr12:119632684-119632685	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs11064704	chr12:119632713-119632714	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs534251468	chr12:119632722-119632723	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs374865420	chr12:119632728-119632729	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs146857574	chr12:119632734-119632735	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs573931417	chr12:119632818-119632819	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs35965635	chr12:119632819-119632820	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs542996385	chr12:119632824-119632825	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs56208269	chr12:119632875-119632876	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs556807765	chr12:119632890-119632891	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs576595027	chr12:119632892-119632893	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs112162519	chr12:119632898-119632899	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs545175330	chr12:119632922-119632923	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs565109158	chr12:119632923-119632924	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs527403537	chr12:119632932-119632933	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs112900530	chr12:119632948-119632949	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs546624150	chr12:119632949-119632950	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs560727685	chr12:119632978-119632979	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs529692109	chr12:119632989-119632990	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs549839971	chr12:119632996-119632997	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs569909043	chr12:119633061-119633062	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs532417889	chr12:119633078-119633079	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs552413484	chr12:119633091-119633092	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119618800-119639600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:119619200-119639000	Weak transcription	Colonic Mucosa	Colon
3	chr12:119620000-119634000	Weak transcription	HUVEC	blood vessel
4	chr12:119620000-119636200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:119620000-119639200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr12:119620000-119639600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr12:119621200-119632200	Weak transcription	Fetal Thymus	thymus
8	chr12:119627000-119636400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:119627000-119641600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr12:119627200-119633600	Weak transcription	NH-A	brain
11	chr12:119627200-119634400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:119627200-119639000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr12:119627400-119635600	Weak transcription	Osteobl	bone
14	chr12:119627600-119632600	Strong transcription	Lung	lung
15	chr12:119627600-119641600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr12:119627800-119632400	Strong transcription	HSMMtube	muscle
17	chr12:119627800-119632800	Strong transcription	Adipose Nuclei	Adipose
18	chr12:119627800-119646600	Weak transcription	Gastric	stomach
19	chr12:119628200-119636200	Weak transcription	Brain Anterior Caudate	brain
20	chr12:119628400-119641200	Weak transcription	Fetal Heart	heart
21	chr12:119629200-119633400	Strong transcription	Fetal Muscle Leg	muscle
22	chr12:119629200-119633400	Strong transcription	Right Ventricle	heart
23	chr12:119629200-119634400	Strong transcription	Skeletal Muscle Male	skeletal muscle
24	chr12:119629200-119634400	Strong transcription	Stomach Smooth Muscle	stomach
25	chr12:119629200-119634600	Strong transcription	Placenta	Placenta
26	chr12:119629200-119635200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr12:119629400-119632200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:119629400-119633400	Strong transcription	Left Ventricle	heart
29	chr12:119629400-119633800	Strong transcription	Colon Smooth Muscle	Colon
30	chr12:119629400-119633800	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr12:119629600-119636400	Weak transcription	Right Atrium	heart
32	chr12:119630600-119632200	Strong transcription	Psoas Muscle	Psoas
33	chr12:119630800-119632400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr12:119630800-119632400	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr12:119630800-119634400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:119631000-119632800	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr12:119631000-119633200	Strong transcription	Ovary	ovary
38	chr12:119631000-119633200	Strong transcription	Placenta Amnion	Placenta Amnion
39	chr12:119631000-119633400	Strong transcription	Spleen	Spleen
40	chr12:119631000-119633800	Strong transcription	Fetal Muscle Trunk	muscle
41	chr12:119631200-119632400	Strong transcription	Brain Cingulate Gyrus	brain
42	chr12:119631200-119639200	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr12:119631400-119632400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:119631400-119632400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:119631400-119632400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr12:119631400-119632400	Strong transcription	HSMM	muscle
47	chr12:119631400-119633800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:119631400-119633800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr12:119631400-119634800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr12:119631600-119632400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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