Variant report

Variant	esv33918
Chromosome Location	chr12:432666-436455
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	FOS	chr12:432852-432872	MCF10A-Er-Src	breast:	n/a	n/a
2	GATA3	chr12:434137-434463	SH-SY5Y	brain:	n/a	chr12:434298-434305 chr12:434298-434307 chr12:434291-434312 chr12:434298-434305 chr12:434297-434307 chr12:434298-434305
3	GATA3	chr12:435170-435531	SH-SY5Y	brain:	n/a	n/a
4	MAFF	chr12:436125-436228	HepG2	liver:	n/a	n/a
5	MAFK	chr12:436071-436245	HepG2	liver:	n/a	n/a
6	MAZ	chr12:432537-432709	HepG2	liver:	n/a	n/a
7	POLR2A	chr12:434281-434291	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr12:436220-436260	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr12:434999-435158	HepG2	liver:	n/a	n/a
10	POLR2A	chr12:433525-433550	K562	blood:	n/a	n/a
11	SPI1	chr12:435267-435554	GM12891	blood:	n/a	n/a
12	SPI1	chr12:435324-435584	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:423846..425522-chr12:432470..434859,2	K562	blood:

Variant related genes	Relation type
KDM5A	TF binding region

Extended variants
information (count: 160 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:160 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3213751	chr12:432666-432667	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs138885698	chr12:432671-432672	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs577036290	chr12:432690-432691	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs541094131	chr12:432710-432711	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571976207	chr12:432749-432750	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370737420	chr12:432750-432751	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs74055635	chr12:432759-432760	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs2229349	chr12:432933-432934	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs370583152	chr12:432942-432943	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563587989	chr12:432956-432957	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374201991	chr12:432978-432979	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545569915	chr12:432991-432992	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376778610	chr12:433030-433031	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191844934	chr12:433058-433059	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532481931	chr12:433066-433067	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547442537	chr12:433090-433091	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565989162	chr12:433127-433128	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs3815558	chr12:433151-433152	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs113040996	chr12:433175-433176	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548637021	chr12:433210-433211	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77044727	chr12:433224-433225	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149385476	chr12:433249-433250	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182769403	chr12:433251-433252	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373103150	chr12:433280-433281	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376149706	chr12:433281-433282	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376616206	chr12:433316-433317	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575978176	chr12:433327-433328	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187097210	chr12:433339-433340	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191579402	chr12:433348-433349	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561820466	chr12:433364-433365	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs57441869	chr12:433440-433441	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs144726232	chr12:433443-433444	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114020171	chr12:433528-433529	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs535413002	chr12:433556-433557	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73041832	chr12:433587-433588	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs78653577	chr12:433595-433596	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139879424	chr12:433597-433598	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116725867	chr12:433630-433631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143782888	chr12:433666-433667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147224191	chr12:433682-433683	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528016509	chr12:433710-433711	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559783829	chr12:433717-433718	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530069258	chr12:433772-433773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6489408	chr12:433810-433811	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs563499812	chr12:433836-433837	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564363688	chr12:433854-433855	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs61907026	chr12:433900-433901	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs201665707	chr12:433963-433964	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552856486	chr12:433995-433996	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561029793	chr12:434047-434048	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	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
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Autism	22495309	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Glioblastoma multiforme	22291905	CNVD

Chromatin state (count:225 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:389400-455200	Strong transcription	Primary B cells from peripheral blood	blood
2	chr12:394000-474400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:400800-440800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:409400-439000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:409800-451600	Strong transcription	Fetal Thymus	thymus
6	chr12:411400-433600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:411600-438600	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr12:411600-448000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:411600-450800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:411600-453800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:412000-433400	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:412000-435800	Strong transcription	Duodenum Smooth Muscle	Duodenum
13	chr12:412000-438200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr12:412000-438400	Strong transcription	Fetal Muscle Leg	muscle
15	chr12:412000-438600	Strong transcription	Duodenum Mucosa	Duodenum
16	chr12:412000-448000	Strong transcription	Primary hematopoietic stem cells	blood
17	chr12:412000-448200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:412000-448400	Strong transcription	Adipose Nuclei	Adipose
19	chr12:412000-453200	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr12:412200-434000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:412200-438200	Strong transcription	Thymus	Thymus
22	chr12:412200-438600	Strong transcription	Fetal Muscle Trunk	muscle
23	chr12:412200-438600	Strong transcription	A549	lung
24	chr12:412200-445400	Strong transcription	Primary B cells from cord blood	blood
25	chr12:412200-452000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr12:412200-452800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:412200-453000	Strong transcription	Fetal Intestine Large	intestine
28	chr12:412200-453200	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr12:412200-453400	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr12:412400-435400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:412400-438200	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr12:412400-446600	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr12:412400-454800	Strong transcription	Primary T cells from cord blood	blood
34	chr12:412600-432800	Strong transcription	Fetal Brain Female	brain
35	chr12:412600-439200	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr12:412600-451200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:412800-448800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr12:412800-452600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:412800-453200	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr12:413000-451200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:413000-452800	Strong transcription	Dnd41	blood
42	chr12:413400-434800	Strong transcription	GM12878-XiMat	blood
43	chr12:413600-433600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
44	chr12:413800-433000	Strong transcription	NH-A	brain
45	chr12:413800-433400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:413800-435400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
47	chr12:413800-448800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr12:413800-452800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr12:414000-433400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr12:414000-435800	Strong transcription	Rectal Smooth Muscle	rectum

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