Variant report

Variant	esv3427688
Chromosome Location	chr12:1027841-1030689
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	CTCF	chr12:1027868-1027923	GM13976	blood:	n/a	n/a
2	POLR2A	chr12:1027897-1027971	MCF-7	breast:	n/a	n/a
3	POLR2A	chr12:1029982-1029991	MCF-7	breast:	n/a	n/a
4	POLR2A	chr12:1027739-1028112	GM12892	blood:	n/a	n/a
5	POLR2A	chr12:1027847-1028052	MCF-7	breast:	n/a	n/a
6	POLR2A	chr12:1030226-1030295	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr12:1027887-1027888	MCF-7	breast:	n/a	n/a
8	POLR2A	chr12:1028229-1028435	K562	blood:	n/a	n/a
9	POLR2A	chr12:1027700-1028017	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr12:1029996-1030043	MCF-7	breast:	n/a	n/a
11	POLR2A	chr12:1027675-1028107	GM12878	blood:	n/a	n/a
12	POLR2A	chr12:1030601-1030898	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:1026662..1028225-chr12:1041093..1043045,2	K562	blood:
2	chr12:1022033..1023631-chr12:1025919..1029696,3	K562	blood:

Variant related genes	Relation type
RAD52	TF binding region
ENSG00000002016	chromatin interactions

Extended variants
information (count: 117 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574682055	chr12:1027894-1027895	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs541422001	chr12:1027899-1027900	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs11064590	chr12:1028011-1028012	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs376848782	chr12:1028012-1028013	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs182714292	chr12:1028060-1028061	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs572741912	chr12:1028086-1028087	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs565466155	chr12:1028143-1028144	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs7295192	chr12:1028186-1028187	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs573848257	chr12:1028193-1028194	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs191318910	chr12:1028243-1028244	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs557474031	chr12:1028285-1028286	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs77033343	chr12:1028307-1028308	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs12827646	chr12:1028315-1028316	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs548260565	chr12:1028366-1028367	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs12814474	chr12:1028367-1028368	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs537132980	chr12:1028410-1028411	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs558667597	chr12:1028424-1028425	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs368485676	chr12:1028433-1028434	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs534473658	chr12:1028457-1028458	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs577074000	chr12:1028468-1028469	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs574612926	chr12:1028508-1028509	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs7295574	chr12:1028526-1028527	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs556977216	chr12:1028532-1028533	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs575349582	chr12:1028545-1028546	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs545909349	chr12:1028554-1028555	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs140474396	chr12:1028566-1028567	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs529700894	chr12:1028570-1028571	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs528201989	chr12:1028581-1028582	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs548348397	chr12:1028601-1028602	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs541230281	chr12:1028611-1028612	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs184927432	chr12:1028679-1028680	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs527349869	chr12:1028682-1028683	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs530306512	chr12:1028689-1028690	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs548897918	chr12:1028714-1028715	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs187736823	chr12:1028716-1028717	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs530861378	chr12:1028732-1028733	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs552157491	chr12:1028744-1028745	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs570572526	chr12:1028745-1028746	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs373637816	chr12:1028750-1028751	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs192324762	chr12:1028751-1028752	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs367654635	chr12:1028762-1028763	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs544696088	chr12:1028781-1028782	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs150405055	chr12:1028789-1028790	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs111359153	chr12:1028796-1028797	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs12423292	chr12:1028824-1028825	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs71449114	chr12:1028831-1028832	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs575610513	chr12:1028833-1028834	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs185281980	chr12:1028834-1028835	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs189711952	chr12:1028841-1028842	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs181426791	chr12:1028842-1028843	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	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
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD
Autism	22495311	CNVD
Pancreatic cancer	17952125	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:235 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:964400-1042200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:965800-1028400	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr12:986200-1042200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:986800-1028400	Strong transcription	Placenta	Placenta
5	chr12:987000-1028400	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:987000-1028800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:987000-1041200	Strong transcription	Fetal Intestine Large	intestine
8	chr12:988600-1029400	Strong transcription	Fetal Muscle Trunk	muscle
9	chr12:989200-1042200	Strong transcription	Fetal Muscle Leg	muscle
10	chr12:989400-1028400	Strong transcription	Skeletal Muscle Female	skeletal muscle
11	chr12:1001800-1028200	Strong transcription	HepG2	liver
12	chr12:1003600-1028000	Strong transcription	Duodenum Smooth Muscle	Duodenum
13	chr12:1003600-1028200	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr12:1003600-1028400	Strong transcription	NHDF-Ad	bronchial
15	chr12:1004400-1041200	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr12:1004800-1037400	Strong transcription	Fetal Lung	lung
17	chr12:1005000-1028000	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr12:1005200-1028800	Strong transcription	Rectal Smooth Muscle	rectum
19	chr12:1006600-1028200	Strong transcription	HSMMtube	muscle
20	chr12:1007000-1028400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:1008000-1028000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:1008200-1028800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr12:1014600-1028200	Strong transcription	Primary T cells from cord blood	blood
24	chr12:1015200-1028000	Strong transcription	Brain Cingulate Gyrus	brain
25	chr12:1015200-1028200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:1015200-1028400	Strong transcription	GM12878-XiMat	blood
27	chr12:1015200-1029200	Strong transcription	Brain Anterior Caudate	brain
28	chr12:1015200-1038800	Weak transcription	Fetal Brain Male	brain
29	chr12:1015400-1028400	Strong transcription	Duodenum Mucosa	Duodenum
30	chr12:1015600-1030800	Strong transcription	Primary B cells from peripheral blood	blood
31	chr12:1015800-1028600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr12:1019200-1028200	Strong transcription	A549	lung
33	chr12:1020800-1054600	Strong transcription	Fetal Intestine Small	intestine
34	chr12:1021200-1028200	Strong transcription	Skeletal Muscle Male	skeletal muscle
35	chr12:1021600-1033800	Weak transcription	Fetal Heart	heart
36	chr12:1021800-1028600	Strong transcription	Lung	lung
37	chr12:1022000-1028400	Strong transcription	Right Ventricle	heart
38	chr12:1023200-1038800	Weak transcription	Psoas Muscle	Psoas
39	chr12:1023600-1028800	Strong transcription	HSMM	muscle
40	chr12:1023800-1028400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:1023800-1029200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr12:1023800-1029400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr12:1023800-1041000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:1024000-1028400	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr12:1024000-1028800	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr12:1024400-1033800	Weak transcription	NH-A	brain
47	chr12:1024600-1029200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:1024600-1030200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:1024600-1031800	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr12:1024600-1055800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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