Variant report

Variant	esv3388347
Chromosome Location	chr12:9068632-9069073
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	CHD1	chr12:9067416-9069628	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr12:9068540-9068690	HPAF	blood vessel:	n/a	n/a
3	POLR2A	chr12:9068287-9068932	H1-hESC	embryonic stem cell:	n/a	n/a
4	SIN3A	chr12:9064234-9069882	H1-hESC	embryonic stem cell:	n/a	chr12:9066956-9066965 chr12:9068258-9068267
5	STAT3	chr12:9068881-9069398	MCF10A-Er-Src	breast:	n/a	n/a
6	TAF7	chr12:9067311-9069050	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:9067058..9069439-chr12:9084458..9085959,2	MCF-7	breast:
2	chr12:9066826..9070397-chr12:9099293..9102558,3	K562	blood:

Variant related genes	Relation type
PHC1	TF binding region
ENSG00000111752	chromatin interactions
ENSG00000003056	chromatin interactions

Extended variants
information (count: 12 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558853115	chr12:9068676-9068677	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs139215543	chr12:9068747-9068748	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs575893100	chr12:9068764-9068765	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs543572694	chr12:9068780-9068781	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs386760145	chr12:9068813-9068814	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs138191877	chr12:9068814-9068815	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs542210570	chr12:9068816-9068817	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs74060227	chr12:9068820-9068821	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs11431930	chr12:9068822-9068823	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs35008510	chr12:9068849-9068850	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs149536067	chr12:9068878-9068879	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs189556852	chr12:9068923-9068924	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD

Chromatin state (count:165 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9063800-9069600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr12:9064600-9070200	Active TSS	H1 Cell Line	embryonic stem cell
3	chr12:9064800-9069400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:9064800-9069600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr12:9065200-9070200	Active TSS	H9 Cell Line	embryonic stem cell
6	chr12:9065200-9070200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:9065600-9069400	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr12:9065600-9069800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:9066000-9068800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:9066000-9069000	Active TSS	Right Atrium	heart
11	chr12:9066000-9069600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:9066200-9069400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:9066200-9069400	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr12:9066200-9069600	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr12:9066400-9069000	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr12:9066600-9069400	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr12:9066800-9068800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:9067600-9068800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr12:9067600-9069000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:9067600-9069000	Flanking Active TSS	Dnd41	blood
21	chr12:9067800-9068800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr12:9067800-9068800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr12:9067800-9068800	Flanking Active TSS	Brain Angular Gyrus	brain
24	chr12:9067800-9068800	Flanking Active TSS	Brain Cingulate Gyrus	brain
25	chr12:9068000-9068800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr12:9068000-9068800	Flanking Active TSS	Fetal Heart	heart
27	chr12:9068000-9068800	Flanking Active TSS	Fetal Lung	lung
28	chr12:9068000-9069000	Flanking Active TSS	Fetal Brain Female	brain
29	chr12:9068200-9068800	Enhancers	Colon Smooth Muscle	Colon
30	chr12:9068200-9068800	Enhancers	Duodenum Mucosa	Duodenum
31	chr12:9068200-9068800	Active TSS	Fetal Kidney	kidney
32	chr12:9068200-9068800	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr12:9068200-9068800	Enhancers	HUVEC	blood vessel
34	chr12:9068200-9068800	Enhancers	NHDF-Ad	bronchial
35	chr12:9068200-9068800	Enhancers	Osteobl	bone
36	chr12:9068200-9069000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:9068200-9069000	Enhancers	Fetal Brain Male	brain
38	chr12:9068200-9069000	Enhancers	HepG2	liver
39	chr12:9068200-9069200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr12:9068200-9069400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:9068200-9069400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr12:9068200-9069800	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr12:9068200-9069800	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr12:9068200-9069800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr12:9068200-9070000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr12:9068200-9070000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:9068200-9070400	Weak transcription	Fetal Muscle Trunk	muscle
48	chr12:9068200-9070400	Enhancers	K562	blood
49	chr12:9068200-9070800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
50	chr12:9068200-9071000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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