Variant report

Variant	esv3404104
Chromosome Location	chr12:123428049-123430847
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	EP300	chr12:123429125-123429497	T-47D	breast:	n/a	n/a
2	FOS	chr12:123429275-123429511	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr12:123429204-123429511	MCF10A-Er-Src	breast:	n/a	chr12:123429223-123429230
4	FOS	chr12:123429185-123429513	MCF10A-Er-Src	breast:	n/a	chr12:123429223-123429230
5	FOSL2	chr12:123429180-123429582	A549	lung:	n/a	chr12:123429223-123429230
6	GATA2	chr12:123427642-123428121	HUVEC	blood vessel:	n/a	n/a
7	GATA3	chr12:123429122-123429468	T-47D	breast:	n/a	n/a
8	MAX	chr12:123429279-123429450	Hela-S3	cervix:	n/a	n/a
9	MAX	chr12:123430827-123432384	HCT-116	colon:	n/a	chr12:123432072-123432087 chr12:123432076-123432085 chr12:123431553-123431562 chr12:123431280-123431290 chr12:123432074-123432084 chr12:123431513-123431523
10	MXI1	chr12:123430796-123432437	IMR90	lung:	n/a	chr12:123432073-123432082 chr12:123432075-123432084
11	MYC	chr12:123427962-123428077	HUVEC	blood vessel:	n/a	n/a
12	MYC	chr12:123429168-123429557	MCF10A-Er-Src	breast:	n/a	n/a
13	MYC	chr12:123429206-123429477	MCF10A-Er-Src	breast:	n/a	n/a
14	NR3C1	chr12:123429041-123429744	A549	lung:	n/a	chr12:123429290-123429316 chr12:123429578-123429596
15	NR3C1	chr12:123429249-123429495	ECC-1	luminal epithelium:	n/a	chr12:123429290-123429316
16	NR3C1	chr12:123429202-123429588	A549	lung:	n/a	chr12:123429290-123429316
17	NR3C1	chr12:123429080-123429562	A549	lung:	n/a	chr12:123429290-123429316
18	NR3C1	chr12:123429098-123429635	A549	lung:	n/a	chr12:123429290-123429316 chr12:123429578-123429596
19	NR3C1	chr12:123429212-123429539	A549	lung:	n/a	chr12:123429290-123429316
20	PBX3	chr12:123428990-123429599	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr12:123429153-123429447	HCT-116	colon:	n/a	n/a
22	POLR2A	chr12:123428935-123429651	PANC-1	pancreas:	n/a	n/a
23	POLR2A	chr12:123429277-123429478	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr12:123429831-123429854	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr12:123427530-123428259	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr12:123427597-123428085	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr12:123427612-123428179	HUVEC	blood vessel:	n/a	n/a
28	POLR2A	chr12:123429362-123429467	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr12:123427654-123428143	PFSK-1	brain:	n/a	n/a
30	POLR2A	chr12:123429125-123429542	HCT-116	colon:	n/a	n/a
31	POLR2A	chr12:123428864-123429703	PANC-1	pancreas:	n/a	n/a
32	SMARCC1	chr12:123430644-123432120	Hela-S3	cervix:	n/a	n/a
33	SMARCC2	chr12:123430806-123431701	Hela-S3	cervix:	n/a	n/a
34	STAT3	chr12:123429245-123429385	MCF10A-Er-Src	breast:	n/a	n/a
35	STAT3	chr12:123429184-123429510	MCF10A-Er-Src	breast:	n/a	n/a
36	TCF12	chr12:123428964-123429709	A549	lung:	n/a	n/a
37	TCF12	chr12:123428937-123429726	SK-N-SH	brain:	n/a	n/a
38	TCF12	chr12:123428978-123429789	SK-N-SH	brain:	n/a	n/a
39	TCF7L2	chr12:123429157-123429486	Hela-S3	cervix:	n/a	n/a
40	TCF7L2	chr12:123429162-123429449	PANC-1	pancreas:	n/a	n/a
41	ZNF143	chr12:123429375-123429457	GM12878	blood:	n/a	n/a
42	ZNF143	chr12:123429319-123429455	Hela-S3	cervix:	n/a	n/a
43	ZNF263	chr12:123429616-123430093	HEK293-T-REx	kidney:	n/a	chr12:123429814-123429823 chr12:123429822-123429843
44	ZNF263	chr12:123428806-123429047	HEK293-T-REx	kidney:	n/a	chr12:123428880-123428901 chr12:123428894-123428903

No.	Distal block	Cell Line	Cell type
1	chr12:123428831..123431560-chr12:123448558..123451555,2	K562	blood:
2	chr12:123426745..123429433-chr12:123432536..123436941,4	K562	blood:
3	chr12:123427499..123429140-chr12:123435163..123436941,2	K562	blood:
4	chr12:123428831..123432471-chr12:123448558..123452277,3	K562	blood:

Variant related genes	Relation type
ABCB9	TF binding region
ENSG00000150967	chromatin interactions

Extended variants
information (count: 116 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531643058	chr12:123428056-123428057	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs546273567	chr12:123428057-123428058	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs75518539	chr12:123428116-123428117	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs148053056	chr12:123428124-123428125	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs558378351	chr12:123428183-123428184	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs541814447	chr12:123428184-123428185	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs549570854	chr12:123428185-123428186	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs567370666	chr12:123428206-123428207	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs550860854	chr12:123428264-123428265	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs569441045	chr12:123428305-123428306	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs536495362	chr12:123428383-123428384	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs180685588	chr12:123428384-123428385	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs566860790	chr12:123428391-123428392	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs534222242	chr12:123428401-123428402	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs559075102	chr12:123428425-123428426	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs142290400	chr12:123428469-123428470	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs538354451	chr12:123428471-123428472	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs146217856	chr12:123428489-123428490	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs112181033	chr12:123428508-123428509	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs536418051	chr12:123428560-123428561	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs560890375	chr12:123428577-123428578	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs368030889	chr12:123428632-123428633	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs191046614	chr12:123428696-123428697	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs539814553	chr12:123428720-123428721	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs181351538	chr12:123428723-123428724	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs370884790	chr12:123428728-123428729	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs550650167	chr12:123428743-123428744	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs562935903	chr12:123428756-123428757	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs373639421	chr12:123428781-123428782	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs371771164	chr12:123428893-123428894	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs547150049	chr12:123428910-123428911	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs548886849	chr12:123428918-123428919	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs185804423	chr12:123428919-123428920	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs143711167	chr12:123428942-123428943	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs148129698	chr12:123428947-123428948	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs144010660	chr12:123428979-123428980	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs368844540	chr12:123428982-123428983	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs147318444	chr12:123428991-123428992	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs372809686	chr12:123429019-123429020	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs139379072	chr12:123429028-123429029	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs373401996	chr12:123429092-123429093	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs377382289	chr12:123429108-123429109	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs200385530	chr12:123429112-123429113	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs375743469	chr12:123429116-123429117	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs34589132	chr12:123429117-123429118	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs534522199	chr12:123429119-123429120	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs143045885	chr12:123429138-123429139	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs367638276	chr12:123429141-123429142	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs570834589	chr12:123429149-123429150	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs367849441	chr12:123429162-123429163	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	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
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
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
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
head and neck squamous cell carcinoma	24351288	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123402600-123429200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:123402800-123429200	Weak transcription	Gastric	stomach
3	chr12:123402800-123430800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr12:123403000-123428800	Weak transcription	Lung	lung
5	chr12:123403000-123444200	Weak transcription	Aorta	Aorta
6	chr12:123405200-123428600	Weak transcription	NHEK	skin
7	chr12:123411800-123428800	Weak transcription	Fetal Brain Male	brain
8	chr12:123412800-123431800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr12:123412800-123449200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:123413400-123449600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr12:123413600-123431400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:123413600-123450000	Weak transcription	Primary T cells from cord blood	blood
13	chr12:123414000-123432400	Weak transcription	Fetal Kidney	kidney
14	chr12:123415600-123429000	Weak transcription	Pancreas	Pancrea
15	chr12:123415800-123431600	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr12:123417400-123441800	Weak transcription	Ovary	ovary
17	chr12:123417600-123446200	Weak transcription	Fetal Lung	lung
18	chr12:123422000-123429200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:123422600-123428800	Weak transcription	Osteobl	bone
20	chr12:123424200-123431000	Weak transcription	Fetal Intestine Large	intestine
21	chr12:123425200-123430000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:123425400-123428200	Weak transcription	Placenta	Placenta
23	chr12:123425600-123428200	Weak transcription	Brain Germinal Matrix	brain
24	chr12:123425600-123428200	Enhancers	Duodenum Mucosa	Duodenum
25	chr12:123425600-123429000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:123425600-123432400	Enhancers	Muscle Satellite Cultured Cells	--
27	chr12:123425600-123432600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:123425800-123428800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr12:123425800-123428800	Weak transcription	Esophagus	oesophagus
30	chr12:123425800-123429200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr12:123425800-123431200	Enhancers	Hela-S3	cervix
32	chr12:123426200-123428200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:123426200-123429000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:123426400-123429000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:123426600-123432200	Enhancers	Right Atrium	heart
36	chr12:123426800-123428400	Enhancers	HSMM	muscle
37	chr12:123426800-123428800	Enhancers	HMEC	breast
38	chr12:123426800-123429000	Weak transcription	Left Ventricle	heart
39	chr12:123427200-123428800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr12:123427200-123429000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr12:123427200-123429200	Strong transcription	Fetal Brain Female	brain
42	chr12:123427200-123429200	Enhancers	Fetal Muscle Trunk	muscle
43	chr12:123427200-123432400	Enhancers	Fetal Muscle Leg	muscle
44	chr12:123427200-123432600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:123427200-123432600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:123427200-123432600	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr12:123427200-123433200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:123427200-123433200	Enhancers	Stomach Mucosa	stomach
49	chr12:123427400-123428200	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr12:123427400-123428200	Enhancers	Monocytes-CD14+_RO01746	blood

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