Variant report

Variant	nsv899042
Chromosome Location	chr12:42031131-42072514
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:223)
CpG islands
(count:183)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:223 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:42056903-42057146	HepG2	liver:	n/a	n/a
2	CEBPB	chr12:42047532-42047871	A549	lung:	n/a	chr12:42047701-42047712
3	CEBPB	chr12:42055215-42055512	A549	lung:	n/a	chr12:42055345-42055356
4	CEBPB	chr12:42055176-42055515	HepG2	liver:	n/a	chr12:42055345-42055356
5	CEBPB	chr12:42047650-42047825	H1-hESC	embryonic stem cell:	n/a	chr12:42047701-42047712
6	CEBPB	chr12:42047533-42047850	IMR90	lung:	n/a	chr12:42047701-42047712
7	CEBPB	chr12:42048346-42048651	A549	lung:	n/a	chr12:42048484-42048495
8	CEBPB	chr12:42055220-42055513	H1-hESC	embryonic stem cell:	n/a	chr12:42055345-42055356
9	CEBPB	chr12:42048323-42048650	HepG2	liver:	n/a	chr12:42048484-42048495
10	CEBPB	chr12:42047535-42047891	HepG2	liver:	n/a	chr12:42047701-42047712
11	CEBPB	chr12:42048366-42048659	H1-hESC	embryonic stem cell:	n/a	chr12:42048484-42048495
12	CEBPB	chr12:42048304-42048583	ECC-1	luminal epithelium:	n/a	chr12:42048484-42048495
13	CEBPB	chr12:42055224-42055497	IMR90	lung:	n/a	chr12:42055345-42055356
14	CTCF	chr12:42057281-42057871	A549	lung:	n/a	n/a
15	CTCF	chr12:42057320-42057470	BE2_C	brain:	n/a	n/a
16	CTCF	chr12:42057380-42057530	GM12864	blood:	n/a	n/a
17	CTCF	chr12:42057480-42057630	HFF-Myc	foreskin:	n/a	n/a
18	CTCF	chr12:42057380-42057530	HUVEC	blood vessel:	n/a	n/a
19	CTCF	chr12:42057380-42057530	HL-60	blood:	n/a	n/a
20	CTCF	chr12:42057440-42057590	GM12864	blood:	n/a	n/a
21	CTCF	chr12:42057406-42057600	Pancreas_OC	pancreas:	n/a	n/a
22	CTCF	chr12:42057440-42057590	NHEK	skin:	n/a	n/a
23	CTCF	chr12:42057294-42057647	MCF-7	breast:	n/a	n/a
24	CTCF	chr12:42057440-42057590	GM12875	blood:	n/a	n/a
25	CTCF	chr12:42057400-42057550	HBMEC	blood vessel:	n/a	n/a
26	CTCF	chr12:42057401-42057604	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr12:42057420-42057570	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr12:42057400-42057550	NHLF	lung:	n/a	n/a
29	CTCF	chr12:42057460-42057610	WERI-Rb-1	eye:	n/a	n/a
30	CTCF	chr12:42057420-42057570	HepG2	liver:	n/a	n/a
31	CTCF	chr12:42057220-42057370	HAc	cerebellar:	n/a	n/a
32	CTCF	chr12:42057320-42057669	IMR90	lung:	n/a	n/a
33	CTCF	chr12:42057440-42057590	NB4	blood:	n/a	n/a
34	CTCF	chr12:42057420-42057570	HVMF	connective:	n/a	n/a
35	CTCF	chr12:42057398-42057591	Gliobla	brain:	n/a	n/a
36	CTCF	chr12:42057420-42057570	Caco-2	colon:	n/a	n/a
37	CTCF	chr12:42057362-42057554	T-47D	breast:	n/a	n/a
38	CTCF	chr12:42057363-42057673	GM12878	blood:	n/a	n/a
39	CTCF	chr12:42057400-42057550	A549	lung:	n/a	n/a
40	CTCF	chr12:42057360-42057510	BE2_C	brain:	n/a	n/a
41	CTCF	chr12:42057460-42057610	MCF-7	breast:	n/a	n/a
42	CTCF	chr12:42057520-42057670	HFF-Myc	foreskin:	n/a	n/a
43	CTCF	chr12:42057380-42057530	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr12:42057320-42057470	HA-sp	spinal cord:	n/a	n/a
45	CTCF	chr12:42057440-42057590	GM12872	blood:	n/a	n/a
46	CTCF	chr12:42057420-42057536	Fibrobl	skin:	n/a	n/a
47	CTCF	chr12:42057420-42057570	HAc	cerebellar:	n/a	n/a
48	CTCF	chr12:42057420-42057570	SAEC	small airway:	n/a	n/a
49	CTCF	chr12:42057420-42057570	HRPEpiC	eye:	n/a	n/a
50	CTCF	chr12:42057400-42057550	HCM	heart:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:42066448-42066498	SK-N-SH	brain:	n/a
2	chr12:42036950-42037000	AG09309	skin:	n/a
3	chr12:42066517-42066567	NHBE	bronchial:	n/a
4	chr12:42036950-42037000	AoSMC	blood vessel:	n/a
5	chr12:42066517-42066567	HCF	heart:	n/a
6	chr12:42066448-42066498	BE2_C	brain:	n/a
7	chr12:42066517-42066567	GM06990	blood:	n/a
8	chr12:42036950-42037000	A549	lung:	n/a
9	chr12:42036950-42037000	IMR90	lung:	fetal
10	chr12:42066517-42066567	MCF10A-Er-Src	breast:	n/a
11	chr12:42066448-42066498	HCT-116	colon:	n/a
12	chr12:42066448-42066498	HNPCEpiC	eye:	n/a
13	chr12:42066448-42066498	MCF10A-Er-Src	breast:	n/a
14	chr12:42066517-42066567	AG04450	lung:	fetal
15	chr12:42066517-42066567	HEK293	kidney:	embryo
16	chr12:42066448-42066498	MCF-7	breast:	n/a
17	chr12:42066448-42066498	GM12878	blood:	n/a
18	chr12:42066517-42066567	AG04449	skin:	fetal
19	chr12:42036950-42037000	Jurkat	blood:	n/a
20	chr12:42036950-42037000	CMK	blood:	n/a
21	chr12:42066517-42066567	SKMC	muscle:	n/a
22	chr12:42066517-42066567	SK-N-MC	brain:	n/a
23	chr12:42066448-42066498	HUVEC	blood vessel:	n/a
24	chr12:42036950-42037000	HCT-116	colon:	n/a
25	chr12:42036950-42037000	NHBE	bronchial:	n/a
26	chr12:42066517-42066567	GM12878	blood:	n/a
27	chr12:42036950-42037000	HRPEpiC	eye:	n/a
28	chr12:42066448-42066498	AG09309	skin:	n/a
29	chr12:42066517-42066567	HRCEpiC	kidney:	n/a
30	chr12:42066448-42066498	NH-A	brain:	n/a
31	chr12:42036950-42037000	GM12878	blood:	n/a
32	chr12:42036950-42037000	SK-N-MC	brain:	n/a
33	chr12:42066448-42066498	HRCEpiC	kidney:	n/a
34	chr12:42066448-42066498	AG04450	lung:	fetal
35	chr12:42036950-42037000	Hepatocyte	liver:	n/a
36	chr12:42036950-42037000	PANC-1	pancreas:	n/a
37	chr12:42066517-42066567	K562	blood:	n/a
38	chr12:42066517-42066567	T-47D	breast:	n/a
39	chr12:42066448-42066498	NB4	blood:	n/a
40	chr12:42066448-42066498	HCM	heart:	n/a
41	chr12:42066448-42066498	HCF	heart:	n/a
42	chr12:42066517-42066567	PrEC	prostate:	n/a
43	chr12:42066448-42066498	ECC-1	luminal epithelium:	n/a
44	chr12:42066517-42066567	NT2-D1	testis:	n/a
45	chr12:42036950-42037000	HL-60	blood:	n/a
46	chr12:42066448-42066498	BJ	skin:	n/a
47	chr12:42066448-42066498	Hepatocyte	liver:	n/a
48	chr12:42036950-42037000	Caco-2	colon:	n/a
49	chr12:42066448-42066498	SAEC	small airway:	n/a
50	chr12:42066517-42066567	ovcar-3	ovarian:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:41670983..41671656-chr12:42057034..42057781,2	MCF-7	breast:
2	chr12:42040861..42043664-chr12:42053965..42056678,2	K562	blood:
3	chr12:41761640..41762189-chr12:42057012..42057853,2	MCF-7	breast:
4	chr12:42040861..42043664-chr12:42053965..42056678,2	K562	blood:

No data

Variant related genes	Relation type
RNA5SP360	TF binding region
RNA5SP360	CpG island

Extended variants
information (count: 993 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:993 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148923013	chr12:42036801-42036802	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs376417389	chr12:42036813-42036814	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs199578477	chr12:42036823-42036824	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs575426771	chr12:42036839-42036840	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs571518201	chr12:42036860-42036861	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs143674448	chr12:42036872-42036873	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs287067	chr12:42036876-42036877	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs141274100	chr12:42036903-42036904	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs35722676	chr12:42036906-42036907	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs287068	chr12:42036913-42036914	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs565110663	chr12:42036917-42036918	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs112170530	chr12:42036922-42036923	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs572693422	chr12:42036923-42036924	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs192852736	chr12:42036924-42036925	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs7960323	chr12:42036960-42036961	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs182724105	chr12:42036961-42036962	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs7974806	chr12:42036968-42036969	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs549170818	chr12:42036989-42036990	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs370874948	chr12:42036993-42036994	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs567581676	chr12:42037042-42037043	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs7960450	chr12:42037063-42037064	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs11181067	chr12:42037076-42037077	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs571154299	chr12:42037078-42037079	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs538769169	chr12:42037079-42037080	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs556649649	chr12:42037080-42037081	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs568567911	chr12:42037084-42037085	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs536461057	chr12:42037086-42037087	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs554725497	chr12:42037091-42037092	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs150899682	chr12:42037092-42037093	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs11615358	chr12:42037098-42037099	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs186629589	chr12:42037099-42037100	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs577176161	chr12:42037115-42037116	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs370710528	chr12:42037151-42037152	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs562549111	chr12:42037171-42037172	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs386762468	chr12:42037173-42037174	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs145870860	chr12:42037174-42037175	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs565031010	chr12:42037185-42037186	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs287069	chr12:42037186-42037187	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs386762469	chr12:42037190-42037191	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs542878208	chr12:42037194-42037195	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs79201815	chr12:42037810-42037811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs79888089	chr12:42037811-42037812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550186541	chr12:42037840-42037841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190078366	chr12:42037859-42037860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs80284097	chr12:42037900-42037901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547889521	chr12:42037939-42037940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566514756	chr12:42037956-42037957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534150808	chr12:42037962-42037963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181079662	chr12:42037987-42037988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572925819	chr12:42038038-42038039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Neurodevelopmental disorder	22521361	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
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
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42036800-42037200	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr12:42037000-42037200	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr12:42037800-42038000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:42038000-42042200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:42039800-42041400	Enhancers	Brain Anterior Caudate	brain
6	chr12:42039800-42041400	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr12:42039800-42041600	Enhancers	Brain Substantia Nigra	brain
8	chr12:42040000-42041400	Enhancers	Brain Cingulate Gyrus	brain
9	chr12:42040400-42041600	Enhancers	Brain Hippocampus Middle	brain
10	chr12:42040800-42041200	Enhancers	Brain Angular Gyrus	brain
11	chr12:42041000-42041200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:42042200-42042600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:42044600-42045000	Enhancers	Fetal Brain Male	brain
14	chr12:42044800-42046400	Enhancers	Brain Germinal Matrix	brain
15	chr12:42045000-42052600	Weak transcription	Fetal Brain Male	brain
16	chr12:42046800-42048800	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr12:42047600-42048600	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr12:42052600-42053000	Enhancers	Fetal Brain Male	brain
19	chr12:42053000-42055000	Weak transcription	Fetal Brain Male	brain
20	chr12:42053800-42054400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:42054400-42055400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:42054600-42055000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr12:42054800-42055400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:42055000-42056200	Enhancers	Fetal Brain Male	brain
25	chr12:42055000-42058600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr12:42055400-42056000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:42056000-42057600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:42056200-42058600	Weak transcription	Fetal Brain Male	brain
29	chr12:42057200-42057800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr12:42057400-42057800	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr12:42057400-42057800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr12:42057600-42058000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:42058600-42058800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr12:42065200-42067600	Weak transcription	Right Atrium	heart
35	chr12:42065800-42066600	Active TSS	H9 Cell Line	embryonic stem cell
36	chr12:42065800-42066800	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr12:42068800-42069000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum

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