Variant report

Variant	esv1798653
Chromosome Location	chr12:85427691-85434384
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	BRCA1	chr12:85430006-85430438	H1-hESC	embryonic stem cell:	n/a	n/a
2	CHD2	chr12:85429910-85430498	Hela-S3	cervix:	n/a	n/a
3	CHD2	chr12:85429936-85430402	H1-hESC	embryonic stem cell:	n/a	n/a
4	CREB1	chr12:85430009-85430335	A549	lung:	n/a	n/a
5	CREB1	chr12:85430000-85430187	A549	lung:	n/a	n/a
6	E2F4	chr12:85429915-85430298	MCF10A-Er-Src	breast:	n/a	chr12:85430101-85430110
7	E2F6	chr12:85429871-85430510	A549	lung:	n/a	chr12:85430372-85430381 chr12:85430101-85430110
8	ELF1	chr12:85429859-85430265	A549	lung:	n/a	chr12:85430248-85430260
9	ELK1	chr12:85429969-85430547	Hela-S3	cervix:	n/a	n/a
10	EP300	chr12:85429934-85430297	H1-hESC	embryonic stem cell:	n/a	n/a
11	EP300	chr12:85429941-85430329	GM12878	blood:	n/a	n/a
12	FOS	chr12:85429954-85430122	MCF10A-Er-Src	breast:	n/a	chr12:85430099-85430108
13	FOS	chr12:85430017-85430237	MCF10A-Er-Src	breast:	n/a	chr12:85430099-85430108
14	FOS	chr12:85429925-85430237	MCF10A-Er-Src	breast:	n/a	chr12:85430099-85430108
15	FOXA1	chr12:85429967-85430227	T-47D	breast:	n/a	n/a
16	GTF2F1	chr12:85430038-85430299	H1-hESC	embryonic stem cell:	n/a	n/a
17	HCFC1	chr12:85429562-85430695	Hela-S3	cervix:	n/a	n/a
18	HDAC2	chr12:85429961-85430290	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAFK	chr12:85431004-85431315	HepG2	liver:	n/a	chr12:85431139-85431159
20	MAFK	chr12:85431041-85431308	IMR90	lung:	n/a	chr12:85431139-85431159
21	MAFK	chr12:85431090-85431245	HepG2	liver:	n/a	chr12:85431139-85431159
22	MAX	chr12:85430039-85430436	ECC-1	luminal epithelium:	n/a	chr12:85430110-85430119
23	MAX	chr12:85429917-85430502	H1-hESC	embryonic stem cell:	n/a	chr12:85430110-85430119
24	MAX	chr12:85429936-85430343	H1-hESC	embryonic stem cell:	n/a	chr12:85430110-85430119
25	MAX	chr12:85429865-85430618	A549	lung:	n/a	chr12:85430110-85430119
26	MAX	chr12:85429865-85430614	A549	lung:	n/a	chr12:85430110-85430119
27	MAX	chr12:85429927-85430516	SK-N-SH	brain:	n/a	chr12:85430110-85430119
28	MXI1	chr12:85429975-85430380	GM12878	blood:	n/a	chr12:85430110-85430125 chr12:85430108-85430123
29	MXI1	chr12:85429536-85430989	SK-N-SH	brain:	n/a	chr12:85430110-85430125 chr12:85430108-85430123
30	MXI1	chr12:85429927-85430488	Hela-S3	cervix:	n/a	chr12:85430110-85430125 chr12:85430108-85430123
31	MYC	chr12:85429939-85430254	MCF10A-Er-Src	breast:	n/a	chr12:85430110-85430119
32	MYC	chr12:85429956-85430152	MCF10A-Er-Src	breast:	n/a	chr12:85430110-85430119
33	NFYA	chr12:85429955-85430499	Hela-S3	cervix:	n/a	chr12:85430097-85430112 chr12:85430100-85430110 chr12:85430097-85430112 chr12:85430098-85430112
34	NFYA	chr12:85430008-85430242	GM12878	blood:	n/a	chr12:85430097-85430112 chr12:85430100-85430110 chr12:85430097-85430112 chr12:85430098-85430112
35	NFYB	chr12:85429861-85430489	Hela-S3	cervix:	n/a	chr12:85430099-85430114 chr12:85430097-85430112 chr12:85430100-85430110 chr12:85430097-85430112 chr12:85430098-85430112
36	NFYB	chr12:85429598-85430512	GM12878	blood:	n/a	chr12:85430099-85430114 chr12:85430097-85430112 chr12:85430100-85430110 chr12:85430097-85430112 chr12:85430098-85430112
37	POLR2A	chr12:85429911-85430559	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr12:85430207-85430215	MCF-7	breast:	n/a	n/a
39	POLR2A	chr12:85430205-85430273	MCF-7	breast:	n/a	n/a
40	POLR2A	chr12:85429917-85430538	H1-neurons	neurons:	n/a	n/a
41	POLR2A	chr12:85429872-85430409	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr12:85430354-85430491	MCF-7	breast:	n/a	n/a
43	POLR2A	chr12:85430142-85430274	A549	lung:	n/a	n/a
44	POLR2A	chr12:85429947-85430305	SK-N-SH	brain:	n/a	n/a
45	POLR2A	chr12:85430128-85430298	Gliobla	brain:	n/a	n/a
46	POLR2A	chr12:85430222-85430232	MCF-7	breast:	n/a	n/a
47	POLR2A	chr12:85434313-85434513	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr12:85430091-85430406	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr12:85430068-85430460	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr12:85431135-85431272	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:85430336-85430386	HUVEC	blood vessel:	n/a
2	chr12:85430336-85430386	NT2-D1	testis:	n/a
3	chr12:85430336-85430386	HUVEC	blood vessel:	n/a
4	chr12:85430336-85430386	NT2-D1	testis:	n/a
5	chr12:85430085-85430135	AoSMC	blood vessel:	n/a
6	chr12:85430029-85430079	SK-N-SH	brain:	n/a
7	chr12:85430336-85430386	HAEpiC	amniotic membrane:	n/a
8	chr12:85430025-85430075	K562	blood:	n/a
9	chr12:85430029-85430079	HCPEpiC	choroid plexus:	n/a
10	chr12:85430123-85430173	ProgFib	skin:	n/a
11	chr12:85430192-85430242	Hepatocyte	liver:	n/a
12	chr12:85430145-85430195	HepG2	liver:	n/a
13	chr12:85430174-85430224	U87	brain:	n/a
14	chr12:85430192-85430242	PrEC	prostate:	n/a
15	chr12:85430250-85430300	Hepatocyte	liver:	n/a
16	chr12:85430123-85430173	SKMC	muscle:	n/a
17	chr12:85430029-85430079	ECC-1	luminal epithelium:	n/a
18	chr12:85430215-85430265	HMEC	breast:	n/a
19	chr12:85430029-85430079	AoSMC	blood vessel:	n/a
20	chr12:85430145-85430195	PFSK-1	brain:	n/a
21	chr12:85430123-85430173	GM12891	blood:	n/a
22	chr12:85430123-85430173	HCT-116	colon:	n/a
23	chr12:85430085-85430135	HEK293	kidney:	embryo
24	chr12:85430145-85430195	HAEpiC	amniotic membrane:	n/a
25	chr12:85430174-85430224	GM12878	blood:	n/a
26	chr12:85430336-85430386	PrEC	prostate:	n/a
27	chr12:85430174-85430224	HL-60	blood:	n/a
28	chr12:85430029-85430079	HRE	kidney:	n/a
29	chr12:85430174-85430224	AG09319	gingival:	n/a
30	chr12:85430029-85430079	BJ	skin:	n/a
31	chr12:85430145-85430195	HUVEC	blood vessel:	n/a
32	chr12:85430250-85430300	HUVEC	blood vessel:	n/a
33	chr12:85430085-85430135	PANC-1	pancreas:	n/a
34	chr12:85430029-85430079	MCF10A-Er-Src	breast:	n/a
35	chr12:85430215-85430265	Hepatocyte	liver:	n/a
36	chr12:85430174-85430224	SK-N-SH_RA	brain:	n/a
37	chr12:85430215-85430265	HEEpiC	esophagus:	n/a
38	chr12:85430085-85430135	ProgFib	skin:	n/a
39	chr12:85430085-85430135	AG10803	skin:	n/a
40	chr12:85430215-85430265	Caco-2	colon:	n/a
41	chr12:85430145-85430195	AG10803	skin:	n/a
42	chr12:85430174-85430224	A549	lung:	n/a
43	chr12:85430336-85430386	HPAEpiC	pulmonary alveolar:	n/a
44	chr12:85430250-85430300	AG04450	lung:	fetal
45	chr12:85430085-85430135	HRCEpiC	kidney:	n/a
46	chr12:85430123-85430173	GM06990	blood:	n/a
47	chr12:85430123-85430173	HAEpiC	amniotic membrane:	n/a
48	chr12:85430192-85430242	HEEpiC	esophagus:	n/a
49	chr12:85430336-85430386	PFSK-1	brain:	n/a
50	chr12:85430215-85430265	U87	brain:	n/a

Variant related genes	Relation type
LRRIQ1	TF binding region
TSPAN19	TF binding region
LRRIQ1	CpG island
TSPAN19	CpG island

Extended variants
information (count: 214 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:214 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10506910	chr12:85427691-85427692	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs145965060	chr12:85427710-85427711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547098011	chr12:85427725-85427726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565399165	chr12:85427726-85427727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs117764997	chr12:85427797-85427798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547857462	chr12:85427818-85427819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569971158	chr12:85427826-85427827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536939336	chr12:85427855-85427856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558765686	chr12:85427881-85427882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138702676	chr12:85427888-85427889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191576764	chr12:85427906-85427907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116820581	chr12:85427907-85427908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554323944	chr12:85427938-85427939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572545734	chr12:85427953-85427954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543078362	chr12:85427969-85427970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79319505	chr12:85427985-85427986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576719439	chr12:85428011-85428012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562098841	chr12:85428032-85428033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184001796	chr12:85428039-85428040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565530809	chr12:85428049-85428050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141769365	chr12:85428122-85428123	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs547553973	chr12:85428126-85428127	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs559048161	chr12:85428152-85428153	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs150762274	chr12:85428162-85428163	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs542100483	chr12:85428204-85428205	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs548212339	chr12:85428256-85428257	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs569548494	chr12:85428274-85428275	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs529348363	chr12:85428279-85428280	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs369200199	chr12:85428280-85428281	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs13377881	chr12:85428374-85428375	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs377730591	chr12:85428380-85428381	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs552197978	chr12:85428393-85428394	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs139204755	chr12:85428394-85428395	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs527705666	chr12:85428440-85428441	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs534834124	chr12:85428482-85428483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1144678	chr12:85428628-85428629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541370110	chr12:85428888-85428889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564433064	chr12:85428893-85428894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560095090	chr12:85428936-85428937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553183298	chr12:85428973-85428974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572613028	chr12:85428999-85429000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149945044	chr12:85429002-85429003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200849758	chr12:85429025-85429026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572468790	chr12:85429047-85429048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554999268	chr12:85429094-85429095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533458010	chr12:85429109-85429110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76165724	chr12:85429124-85429125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543762430	chr12:85429175-85429176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570428553	chr12:85429181-85429182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577096969	chr12:85429199-85429200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
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
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
Breast cancer	17899364	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD

Chromatin state (count:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:85424400-85429600	Weak transcription	Hela-S3	cervix
2	chr12:85425400-85429600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:85427400-85429600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:85429400-85430600	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr12:85429600-85429800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:85429600-85429800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:85429600-85429800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:85429600-85429800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:85429600-85429800	Flanking Active TSS	Fetal Brain Male	brain
10	chr12:85429600-85429800	Enhancers	Rectal Smooth Muscle	rectum
11	chr12:85429600-85430000	Active TSS	Right Atrium	heart
12	chr12:85429600-85430000	Enhancers	Stomach Mucosa	stomach
13	chr12:85429600-85430600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr12:85429600-85430600	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr12:85429600-85430600	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr12:85429600-85430600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:85429600-85430600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:85429600-85430600	Active TSS	Brain Anterior Caudate	brain
19	chr12:85429600-85430600	Active TSS	Fetal Brain Female	brain
20	chr12:85429600-85430600	Active TSS	Fetal Kidney	kidney
21	chr12:85429600-85430600	Active TSS	Hela-S3	cervix
22	chr12:85429600-85430600	Active TSS	NH-A	brain
23	chr12:85429600-85430600	Active TSS	NHDF-Ad	bronchial
24	chr12:85429600-85430800	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr12:85429600-85430800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:85429600-85430800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:85429600-85430800	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr12:85429600-85430800	Active TSS	Brain Angular Gyrus	brain
29	chr12:85429600-85430800	Active TSS	Brain Cingulate Gyrus	brain
30	chr12:85429600-85430800	Active TSS	Brain Hippocampus Middle	brain
31	chr12:85429600-85430800	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr12:85429600-85430800	Active TSS	Brain Substantia Nigra	brain
33	chr12:85429600-85430800	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr12:85429600-85430800	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr12:85429600-85430800	Active TSS	Stomach Smooth Muscle	stomach
36	chr12:85429600-85430800	Active TSS	A549	lung
37	chr12:85429600-85430800	Active TSS	HMEC	breast
38	chr12:85429600-85431000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:85429600-85431000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr12:85429600-85431000	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr12:85429800-85430000	Enhancers	Primary B cells from peripheral blood	blood
42	chr12:85429800-85430000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr12:85429800-85430000	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
44	chr12:85429800-85430000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
45	chr12:85429800-85430000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:85429800-85430000	Active TSS	Fetal Muscle Trunk	muscle
47	chr12:85429800-85430000	Enhancers	Placenta	Placenta
48	chr12:85429800-85430000	Active TSS	Fetal Stomach	stomach
49	chr12:85429800-85430000	Active TSS	Rectal Mucosa Donor 31	rectum
50	chr12:85429800-85430000	Active TSS	Skeletal Muscle Female	skeletal muscle

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