Variant report

Variant	esv14000
Chromosome Location	chr12:123719423-123719876
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr12:123719585-123719664	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr12:123719578-123719734	K562	blood:	n/a	n/a
3	POLR2A	chr12:123719874-123719890	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr12:123719756-123719871	K562	blood:	n/a	n/a
5	POLR2A	chr12:123719752-123719755	K562	blood:	n/a	n/a
6	POLR2A	chr12:123719678-123719849	HepG2	liver:	n/a	n/a
7	POLR2A	chr12:123719543-123720549	HepG2	liver:	n/a	n/a
8	POLR2A	chr12:123719467-123720110	SK-N-MC	brain:	n/a	n/a
9	POLR2A	chr12:123719736-123719746	K562	blood:	n/a	n/a
10	POLR2A	chr12:123719666-123719942	HCT-116	colon:	n/a	n/a
11	POLR2A	chr12:123719472-123719650	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr12:123719831-123719832	HepG2	liver:	n/a	n/a
13	POLR2A	chr12:123719789-123719799	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr12:123719401-123719576	MCF10A-Er-Src	breast:	n/a	n/a
15	STAT3	chr12:123719585-123719718	MCF10A-Er-Src	breast:	n/a	n/a
16	ZC3H11A	chr12:123719501-123719515	K562	blood:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123718175..123719849-chr12:123755538..123757797,2	MCF-7	breast:
2	chr12:123716353..123719935-chr12:123753594..123757800,6	K562	blood:
3	chr12:123458147..123462549-chr12:123715608..123720287,8	MCF-7	breast:
4	chr12:123459054..123462367-chr12:123715409..123720380,5	K562	blood:
5	chr12:123717082..123719698-chr12:123751267..123753093,2	K562	blood:
6	chr12:123715079..123721002-chr12:123721919..123730378,16	K562	blood:
7	chr12:123632948..123634613-chr12:123717747..123719847,2	K562	blood:
8	chr12:123494754..123497414-chr12:123717630..123719730,2	K562	blood:
9	chr12:123714199..123721299-chr12:123733822..123739052,7	MCF-7	breast:
10	chr12:123558968..123563276-chr12:123716606..123719909,6	MCF-7	breast:
11	chr12:123715622..123719446-chr12:123735072..123738647,4	K562	blood:
12	chr12:123470053..123472975-chr12:123718822..123721771,2	K562	blood:
13	chr12:123449332..123452871-chr12:123717386..123719515,4	K562	blood:
14	chr12:123716636..123719469-chr12:124192807..124195608,2	K562	blood:
15	chr12:123344301..123346489-chr12:123716077..123720315,3	K562	blood:
16	chr12:123717014..123719935-chr12:123753310..123757333,7	K562	blood:
17	chr12:123465824..123467766-chr12:123717384..123719608,2	MCF-7	breast:
18	chr12:123463210..123468211-chr12:123716151..123721062,7	MCF-7	breast:
19	chr12:123452751..123454277-chr12:123718785..123720840,2	MCF-7	breast:

No data

Variant related genes	Relation type
MPHOSPH9	TF binding region
ENSG00000111328	chromatin interactions
ENSG00000130921	chromatin interactions
ENSG00000111325	chromatin interactions
ENSG00000130787	chromatin interactions
ENSG00000255839	chromatin interactions
ENSG00000090975	chromatin interactions
ENSG00000182196	chromatin interactions
ENSG00000150967	chromatin interactions
ENSG00000256028	chromatin interactions
ENSG00000051825	chromatin interactions
ENSG00000265526	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560734326	chr12:123719424-123719425	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
2	rs189602354	chr12:123719429-123719430	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
3	rs7304782	chr12:123719444-123719445	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs141143950	chr12:123719448-123719449	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
5	rs531969865	chr12:123719481-123719482	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs550584361	chr12:123719488-123719489	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs7139321	chr12:123719528-123719529	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs536327767	chr12:123719544-123719545	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs4759409	chr12:123719585-123719586	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs78368479	chr12:123719591-123719592	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs534531173	chr12:123719596-123719597	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs536546665	chr12:123719658-123719659	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs558940822	chr12:123719675-123719676	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
14	rs367771017	chr12:123719735-123719736	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
15	rs546532315	chr12:123719747-123719748	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
16	rs192690159	chr12:123719761-123719762	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
17	rs146950036	chr12:123719780-123719781	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
18	rs184887364	chr12:123719781-123719782	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
19	rs61953361	chr12:123719836-123719837	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
20	rs560769003	chr12:123719837-123719838	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:196 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123716200-123719800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:123718000-123719600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr12:123718400-123719600	Flanking Active TSS	Primary T cells from cord blood	blood
4	chr12:123718400-123719800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr12:123718400-123719800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:123718400-123720000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:123718600-123719600	Flanking Active TSS	Dnd41	blood
8	chr12:123718600-123719800	Flanking Active TSS	HMEC	breast
9	chr12:123718800-123719800	Weak transcription	Lung	lung
10	chr12:123718800-123719800	Enhancers	Spleen	Spleen
11	chr12:123718800-123720000	Enhancers	Small Intestine	intestine
12	chr12:123718800-123720200	Enhancers	Pancreas	Pancrea
13	chr12:123718800-123721000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:123718800-123722200	Weak transcription	Stomach Mucosa	stomach
15	chr12:123718800-123728400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:123718800-123728400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr12:123718800-123733000	Weak transcription	Esophagus	oesophagus
18	chr12:123718800-123733800	Weak transcription	Aorta	Aorta
19	chr12:123718800-123739600	Weak transcription	Fetal Kidney	kidney
20	chr12:123719000-123719600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:123719000-123719600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:123719000-123719600	Weak transcription	Brain Anterior Caudate	brain
23	chr12:123719000-123719600	Weak transcription	Gastric	stomach
24	chr12:123719000-123719600	Enhancers	Rectal Smooth Muscle	rectum
25	chr12:123719000-123719600	Enhancers	Osteobl	bone
26	chr12:123719000-123719800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:123719000-123719800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr12:123719000-123719800	Enhancers	Brain Substantia Nigra	brain
29	chr12:123719000-123719800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr12:123719000-123719800	Enhancers	Fetal Intestine Large	intestine
31	chr12:123719000-123719800	Enhancers	Fetal Intestine Small	intestine
32	chr12:123719000-123719800	Enhancers	Fetal Lung	lung
33	chr12:123719000-123719800	Weak transcription	Fetal Stomach	stomach
34	chr12:123719000-123719800	Weak transcription	Psoas Muscle	Psoas
35	chr12:123719000-123720000	Enhancers	Muscle Satellite Cultured Cells	--
36	chr12:123719000-123720000	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr12:123719000-123720000	Enhancers	Adipose Nuclei	Adipose
38	chr12:123719000-123720000	Enhancers	Brain Cingulate Gyrus	brain
39	chr12:123719000-123720000	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr12:123719000-123720000	Enhancers	Colon Smooth Muscle	Colon
41	chr12:123719000-123720000	Enhancers	Duodenum Mucosa	Duodenum
42	chr12:123719000-123720000	Enhancers	Fetal Heart	heart
43	chr12:123719000-123720000	Enhancers	HUVEC	blood vessel
44	chr12:123719000-123720200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr12:123719000-123720600	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr12:123719000-123720800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:123719000-123721200	Enhancers	Liver	Liver
48	chr12:123719000-123722200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr12:123719000-123722200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr12:123719000-123722200	Enhancers	Primary B cells from cord blood	blood

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