Variant report

Variant	esv1008305
Chromosome Location	chr12:83080776-83081231
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:247)
CpG islands
(count:306)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:247 , 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	BACH1	chr12:83080541-83081200	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr12:83080069-83081162	GM12878	blood:	n/a	chr12:83080366-83080382 chr12:83080358-83080374
3	BRCA1	chr12:83080953-83081041	HepG2	liver:	n/a	n/a
4	CCNT2	chr12:83080794-83081014	K562	blood:	n/a	n/a
5	CHD1	chr12:83080969-83081069	H1-hESC	embryonic stem cell:	n/a	n/a
6	CHD2	chr12:83080115-83081257	GM12878	blood:	n/a	chr12:83080164-83080174 chr12:83081185-83081195
7	CHD2	chr12:83080997-83081122	H1-hESC	embryonic stem cell:	n/a	n/a
8	CREB1	chr12:83080282-83080791	A549	lung:	n/a	n/a
9	CTBP2	chr12:83080192-83081685	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr12:83080720-83080870	GM12864	blood:	n/a	n/a
11	CTCF	chr12:83080860-83081130	HMEC	breast:	n/a	n/a
12	CTCF	chr12:83080760-83080910	AG09309	skin:	n/a	n/a
13	CTCF	chr12:83080840-83080990	NHLF	lung:	n/a	n/a
14	CTCF	chr12:83080740-83080890	HPAF	blood vessel:	n/a	n/a
15	CTCF	chr12:83080820-83080970	GM12871	blood:	n/a	n/a
16	CTCF	chr12:83080900-83081050	GM12875	blood:	n/a	n/a
17	CTCF	chr12:83081060-83081210	GM12864	blood:	n/a	n/a
18	CTCF	chr12:83080740-83080890	MCF-7	breast:	n/a	n/a
19	CTCF	chr12:83080780-83080930	HEK293	kidney:	n/a	n/a
20	CTCF	chr12:83081040-83081190	GM12867	blood:	n/a	n/a
21	CTCF	chr12:83081020-83081170	AG09319	gingival:	n/a	n/a
22	CTCF	chr12:83081081-83081114	MCF-7	breast:	n/a	n/a
23	CTCF	chr12:83080980-83081130	GM06990	blood:	n/a	n/a
24	CTCF	chr12:83081076-83081159	MCF-7	breast:	n/a	n/a
25	CTCF	chr12:83080780-83080930	AoAF	blood vessel:	n/a	n/a
26	CTCF	chr12:83080920-83081070	GM12866	blood:	n/a	n/a
27	CTCF	chr12:83081020-83081170	GM12872	blood:	n/a	n/a
28	CTCF	chr12:83080800-83080950	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr12:83080980-83081130	GM12868	blood:	n/a	n/a
30	CTCF	chr12:83081054-83081071	MCF-7	breast:	n/a	n/a
31	CTCF	chr12:83081097-83081111	MCF-7	breast:	n/a	n/a
32	CTCF	chr12:83081140-83081290	GM12875	blood:	n/a	n/a
33	CTCF	chr12:83079100-83082637	A549	lung:	n/a	chr12:83079640-83079656 chr12:83081477-83081490 chr12:83079639-83079657 chr12:83079644-83079654 chr12:83081474-83081492 chr12:83079642-83079655
34	CTCF	chr12:83080700-83080850	AoAF	blood vessel:	n/a	n/a
35	CTCF	chr12:83080740-83080890	HEEpiC	esophagus:	n/a	n/a
36	CTCF	chr12:83080940-83081090	GM12874	blood:	n/a	n/a
37	CTCF	chr12:83080871-83080897	Fibrobl	skin:	n/a	n/a
38	CTCF	chr12:83081045-83081053	MCF-7	breast:	n/a	n/a
39	CTCF	chr12:83080960-83081110	GM12865	blood:	n/a	n/a
40	CTCF	chr12:83080820-83080970	SAEC	small airway:	n/a	n/a
41	CTCF	chr12:83080845-83080890	MCF-7	breast:	n/a	n/a
42	CTCF	chr12:83081042-83081155	GM12892	blood:	n/a	n/a
43	CTCF	chr12:83080860-83081010	BJ	skin:	n/a	n/a
44	CTCF	chr12:83080940-83081090	AG09319	gingival:	n/a	n/a
45	CTCF	chr12:83081100-83081145	Fibrobl	skin:	n/a	n/a
46	CTCF	chr12:83080214-83081090	GM12878	blood:	n/a	n/a
47	CTCF	chr12:83080980-83081130	NHDF-neo	bronchial:	n/a	n/a
48	CTCF	chr12:83081000-83081150	NHLF	lung:	n/a	n/a
49	CTCF	chr12:83080840-83080990	NHEK	skin:	n/a	n/a
50	CTCF	chr12:83081019-83081130	GM19238	blood:	n/a	n/a

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:83081046-83081096	HCF	heart:	n/a
2	chr12:83081046-83081096	HCF	heart:	n/a
3	chr12:83081046-83081096	U87	brain:	n/a
4	chr12:83081048-83081098	SK-N-MC	brain:	n/a
5	chr12:83080834-83080884	HNPCEpiC	eye:	n/a
6	chr12:83080838-83080888	HEK293	kidney:	embryo
7	chr12:83081048-83081098	NHBE	bronchial:	n/a
8	chr12:83081048-83081098	K562	blood:	n/a
9	chr12:83080838-83080888	HEEpiC	esophagus:	n/a
10	chr12:83080830-83080880	NT2-D1	testis:	n/a
11	chr12:83081046-83081096	HEK293	kidney:	embryo
12	chr12:83080830-83080880	Hepatocyte	liver:	n/a
13	chr12:83080838-83080888	PANC-1	pancreas:	n/a
14	chr12:83080834-83080884	HUVEC	blood vessel:	n/a
15	chr12:83080834-83080884	A549	lung:	n/a
16	chr12:83080834-83080884	Hela-S3	cervix:	n/a
17	chr12:83081046-83081096	HNPCEpiC	eye:	n/a
18	chr12:83080830-83080880	HIPEpiC	eye:	n/a
19	chr12:83080830-83080880	AG09309	skin:	n/a
20	chr12:83081046-83081096	HUVEC	blood vessel:	n/a
21	chr12:83081046-83081096	HCT-116	colon:	n/a
22	chr12:83080838-83080888	LNCaP	prostate:	n/a
23	chr12:83080834-83080884	Caco-2	colon:	n/a
24	chr12:83081048-83081098	LNCaP	prostate:	n/a
25	chr12:83081046-83081096	Hepatocyte	liver:	n/a
26	chr12:83080834-83080884	BE2_C	brain:	n/a
27	chr12:83080838-83080888	AG04450	lung:	fetal
28	chr12:83080834-83080884	NHBE	bronchial:	n/a
29	chr12:83081046-83081096	HCM	heart:	n/a
30	chr12:83080838-83080888	Jurkat	blood:	n/a
31	chr12:83081048-83081098	Jurkat	blood:	n/a
32	chr12:83081048-83081098	HepG2	liver:	n/a
33	chr12:83080834-83080884	HPAEpiC	pulmonary alveolar:	n/a
34	chr12:83080830-83080880	GM12891	blood:	n/a
35	chr12:83081046-83081096	HRE	kidney:	n/a
36	chr12:83081048-83081098	HCPEpiC	choroid plexus:	n/a
37	chr12:83080838-83080888	H1-hESC	embryonic stem cell:	embryo
38	chr12:83081046-83081096	BE2_C	brain:	n/a
39	chr12:83080834-83080884	T-47D	breast:	n/a
40	chr12:83081048-83081098	IMR90	lung:	fetal
41	chr12:83080830-83080880	IMR90	lung:	fetal
42	chr12:83080830-83080880	HCM	heart:	n/a
43	chr12:83080834-83080884	SKMC	muscle:	n/a
44	chr12:83081046-83081096	NH-A	brain:	n/a
45	chr12:83081046-83081096	K562	blood:	n/a
46	chr12:83080830-83080880	RPTEC	kidney:	n/a
47	chr12:83081046-83081096	SK-N-SH_RA	brain:	n/a
48	chr12:83081048-83081098	SKMC	muscle:	n/a
49	chr12:83081048-83081098	SK-N-SH_RA	brain:	n/a
50	chr12:83080830-83080880	PFSK-1	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr12:83080246..83081011-chr12:112123306..112123880,2	NB4	blood:
2	chr12:83079676..83081707-chr12:83150851..83153057,2	MCF-7	breast:
3	chr12:83079877..83081535-chr12:120728404..120731286,2	MCF-7	breast:
4	chr12:83078982..83081661-chr3:63848631..63850534,2	MCF-7	breast:

No data

Variant related genes	Relation type
TMTC2	TF binding region
TMTC2	CpG island
ENSG00000089234	chromatin interactions
ENSG00000163634	chromatin interactions
ENSG00000163635	chromatin interactions
ENSG00000179104	chromatin interactions
ENSG00000111271	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000200795	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74481432	chr12:83080806-83080807	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs553352847	chr12:83080812-83080813	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs575082625	chr12:83080834-83080835	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs542165569	chr12:83080899-83080900	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs563532032	chr12:83080987-83080988	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs371771054	chr12:83081007-83081008	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs545871278	chr12:83081067-83081068	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs55780747	chr12:83081074-83081075	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs189056012	chr12:83081096-83081097	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs528441441	chr12:83081131-83081132	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs546983362	chr12:83081137-83081138	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs12422405	chr12:83081182-83081183	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs530012820	chr12:83081184-83081185	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Neurodevelopmental disorder	22521361	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
Breast cancer	21785460	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
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83079400-83081000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:83079400-83081400	Active TSS	Primary T cells from cord blood	blood
3	chr12:83079400-83081800	Active TSS	Hela-S3	cervix
4	chr12:83079400-83082200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:83079400-83082400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:83079400-83084200	Active TSS	Fetal Intestine Large	intestine
7	chr12:83079600-83080800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:83079600-83081400	Active TSS	Duodenum Mucosa	Duodenum
9	chr12:83079600-83081400	Active TSS	Osteobl	bone
10	chr12:83079600-83081600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:83079600-83081600	Active TSS	Fetal Intestine Small	intestine
12	chr12:83079600-83081800	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr12:83079600-83081800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:83079600-83081800	Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr12:83079600-83081800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
16	chr12:83079600-83081800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:83079600-83081800	Active TSS	Fetal Brain Female	brain
18	chr12:83079600-83082000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr12:83079600-83082000	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr12:83079600-83082000	Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr12:83079600-83082000	Active TSS	A549	lung
22	chr12:83079600-83082200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:83079600-83082200	Active TSS	H9 Cell Line	embryonic stem cell
24	chr12:83079600-83082200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:83079600-83082200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:83079600-83082200	Active TSS	Muscle Satellite Cultured Cells	--
27	chr12:83079600-83082200	Active TSS	Esophagus	oesophagus
28	chr12:83079600-83082200	Active TSS	Pancreas	Pancrea
29	chr12:83079600-83082200	Active TSS	Stomach Mucosa	stomach
30	chr12:83079600-83082200	Active TSS	HSMM	muscle
31	chr12:83079600-83082400	Active TSS	H1 Cell Line	embryonic stem cell
32	chr12:83079600-83082400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:83079600-83082400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr12:83079600-83082400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:83079600-83082400	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr12:83079600-83082400	Active TSS	Right Ventricle	heart
37	chr12:83079600-83082600	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr12:83079600-83082600	Active TSS	Left Ventricle	heart
39	chr12:83079600-83082800	Active TSS	Colonic Mucosa	Colon
40	chr12:83079600-83082800	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr12:83079600-83082800	Active TSS	Right Atrium	heart
42	chr12:83079600-83082800	Active TSS	NHDF-Ad	bronchial
43	chr12:83079600-83083200	Active TSS	Psoas Muscle	Psoas
44	chr12:83079600-83083600	Active TSS	Stomach Smooth Muscle	stomach
45	chr12:83079600-83083800	Active TSS	Brain Substantia Nigra	brain
46	chr12:83079600-83083800	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr12:83079600-83083800	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr12:83079600-83084000	Active TSS	Brain Angular Gyrus	brain
49	chr12:83079600-83084000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr12:83079600-83084000	Active TSS	Colon Smooth Muscle	Colon

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