Variant report

Variant	esv3387088
Chromosome Location	chr12:9083419-9085279
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr12:9083648-9083848	K562	blood:	n/a	n/a
2	CCNT2	chr12:9083622-9083867	K562	blood:	n/a	chr12:9083718-9083738
3	EP300	chr12:9083581-9083855	K562	blood:	n/a	n/a
4	GATA2	chr12:9083545-9083834	K562	blood:	n/a	chr12:9083744-9083751 chr12:9083721-9083738
5	IRF1	chr12:9083653-9083864	K562	blood:	n/a	n/a
6	JUND	chr12:9083713-9083800	K562	blood:	n/a	n/a
7	MYC	chr12:9085251-9085352	H1-hESC	embryonic stem cell:	n/a	n/a
8	MYC	chr12:9085178-9085439	MCF-7	breast:	n/a	n/a
9	MYC	chr12:9085203-9085247	MCF-7	breast:	n/a	n/a
10	MYC	chr12:9085175-9085412	MCF-7	breast:	n/a	n/a
11	MYC	chr12:9085253-9085257	GM12878	blood:	n/a	n/a
12	MYC	chr12:9085277-9085412	GM12878	blood:	n/a	n/a
13	NR2F2	chr12:9083417-9083901	K562	blood:	n/a	n/a
14	NR2F2	chr12:9083487-9083884	K562	blood:	n/a	n/a
15	POLR2A	chr12:9085170-9085779	MCF-7	breast:	n/a	n/a
16	POLR2A	chr12:9084048-9084113	HepG2	liver:	n/a	n/a
17	POLR2A	chr12:9084073-9084171	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr12:9085265-9085422	A549	lung:	n/a	n/a
19	POLR2A	chr12:9085121-9086003	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr12:9085192-9085889	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr12:9083185-9083535	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr12:9085193-9085475	MCF-7	breast:	n/a	n/a
23	POLR2A	chr12:9082312-9085096	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr12:9085102-9088072	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr12:9083975-9084037	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr12:9082665-9083610	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr12:9083350-9083421	MCF-7	breast:	n/a	n/a
28	POLR2A	chr12:9084308-9084333	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr12:9084849-9086025	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr12:9083864-9084389	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr12:9084476-9084755	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr12:9082894-9083522	H1-hESC	embryonic stem cell:	n/a	n/a
33	RCOR1	chr12:9083585-9083896	K562	blood:	n/a	n/a
34	TAL1	chr12:9083511-9083898	K562	blood:	n/a	chr12:9083720-9083738
35	TBL1XR1	chr12:9083658-9083878	K562	blood:	n/a	n/a
36	TEAD4	chr12:9083517-9083848	K562	blood:	n/a	n/a
37	TEAD4	chr12:9083519-9083921	K562	blood:	n/a	n/a
38	ZMIZ1	chr12:9083680-9083813	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:9081265..9083698-chr12:9100850..9103403,2	MCF-7	breast:
2	chr12:9085152..9087931-chr12:9094994..9098809,4	K562	blood:
3	chr12:9083802..9086315-chr12:9099049..9101665,2	MCF-7	breast:
4	chr12:9067058..9069439-chr12:9084458..9085959,2	MCF-7	breast:
5	chr12:9085152..9087425-chr12:9095080..9098809,3	K562	blood:

No data

Variant related genes	Relation type
PHC1	TF binding region
ENSG00000111752	chromatin interactions
ENSG00000003056	chromatin interactions
ENSG00000139187	chromatin interactions

Extended variants
information (count: 50 )
Associated
traits (count: 76 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2377669	chr12:9083422-9083423	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs2377670	chr12:9083423-9083424	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs149952935	chr12:9083429-9083430	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs375570809	chr12:9083462-9083463	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs181118510	chr12:9083482-9083483	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs376680364	chr12:9083511-9083512	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs140871281	chr12:9083528-9083529	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs150153698	chr12:9083683-9083684	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs186459064	chr12:9083768-9083769	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs138584527	chr12:9083779-9083780	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs562147382	chr12:9083844-9083845	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs35269481	chr12:9083875-9083876	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs35403485	chr12:9083912-9083913	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs190894513	chr12:9083939-9083940	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs182704223	chr12:9083978-9083979	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs572329976	chr12:9084008-9084009	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs78267099	chr12:9084017-9084018	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs188961832	chr12:9084025-9084026	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs75385744	chr12:9084154-9084155	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs149380212	chr12:9084159-9084160	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs191065275	chr12:9084176-9084177	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs71447542	chr12:9084189-9084190	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs372870645	chr12:9084233-9084234	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs375772193	chr12:9084318-9084319	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs138235396	chr12:9084326-9084327	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs1805776	chr12:9084375-9084376	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs182847106	chr12:9084384-9084385	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs1805775	chr12:9084534-9084535	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
29	rs562257151	chr12:9084544-9084545	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs559818837	chr12:9084613-9084614	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs1805737	chr12:9084670-9084671	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs887782	chr12:9084678-9084679	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs142727478	chr12:9084684-9084685	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs187224340	chr12:9084706-9084707	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs71694107	chr12:9084788-9084789	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs57340788	chr12:9084789-9084790	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs192120368	chr12:9084848-9084849	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs375191793	chr12:9084860-9084861	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs183889510	chr12:9084868-9084869	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs146054705	chr12:9084909-9084910	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs1805736	chr12:9084931-9084932	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs373685286	chr12:9085040-9085041	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs887783	chr12:9085099-9085100	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs374307552	chr12:9085140-9085141	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs199670873	chr12:9085146-9085147	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs373680736	chr12:9085147-9085148	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs375827686	chr12:9085188-9085189	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs148803996	chr12:9085205-9085206	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs201644380	chr12:9085218-9085219	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs142137504	chr12:9085266-9085267	Strong transcription Weak transcription	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:168 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9068200-9084000	Weak transcription	Esophagus	oesophagus
2	chr12:9068200-9086400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:9068200-9088800	Weak transcription	Gastric	stomach
4	chr12:9068200-9091400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:9068200-9094200	Weak transcription	Colonic Mucosa	Colon
6	chr12:9068200-9094200	Weak transcription	Lung	lung
7	chr12:9068200-9094200	Weak transcription	Psoas Muscle	Psoas
8	chr12:9068200-9094200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:9068200-9094200	Weak transcription	Small Intestine	intestine
10	chr12:9068200-9100000	Weak transcription	Stomach Mucosa	stomach
11	chr12:9068800-9084400	Weak transcription	Osteobl	bone
12	chr12:9068800-9086400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr12:9069000-9086400	Weak transcription	HepG2	liver
14	chr12:9069000-9094200	Weak transcription	NHLF	lung
15	chr12:9069400-9094000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr12:9069400-9094200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr12:9069600-9084400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr12:9069600-9092000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:9069800-9083600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr12:9069800-9083800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr12:9070400-9092000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:9070400-9092000	Strong transcription	Fetal Muscle Trunk	muscle
23	chr12:9070600-9092000	Strong transcription	Stomach Smooth Muscle	stomach
24	chr12:9070600-9092600	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:9070600-9092600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
26	chr12:9071000-9087800	Strong transcription	Fetal Brain Female	brain
27	chr12:9071000-9092000	Strong transcription	Fetal Muscle Leg	muscle
28	chr12:9071200-9088000	Strong transcription	Primary T cells from cord blood	blood
29	chr12:9071400-9084400	Strong transcription	Brain Germinal Matrix	brain
30	chr12:9071400-9099400	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr12:9071600-9092000	Strong transcription	H9 Cell Line	embryonic stem cell
32	chr12:9071600-9092000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr12:9071600-9100000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr12:9072400-9092000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr12:9072400-9094200	Weak transcription	NHEK	skin
36	chr12:9072800-9091000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:9072800-9094200	Weak transcription	HSMM	muscle
38	chr12:9073800-9099800	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr12:9074200-9093800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr12:9074400-9094000	Weak transcription	HUVEC	blood vessel
41	chr12:9074600-9094000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr12:9075400-9086400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:9075400-9086400	Weak transcription	Pancreas	Pancrea
44	chr12:9075400-9092000	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr12:9075600-9086000	Weak transcription	NH-A	brain
46	chr12:9075600-9086400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr12:9075600-9087800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr12:9075800-9083600	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr12:9075800-9084200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:9075800-9086000	Weak transcription	Liver	Liver

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