Variant report

Variant	nsv556945
Chromosome Location	chr12:1360880-1366314
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	EP300	chr12:1361751-1362501	SK-N-SH_RA	brain:	n/a	n/a
2	EP300	chr12:1361764-1362445	SK-N-SH_RA	brain:	n/a	n/a
3	EP300	chr12:1360535-1362598	SK-N-SH	brain:	n/a	chr12:1360535-1360549
4	GATA2	chr12:1362229-1362529	SH-SY5Y	brain:	n/a	n/a
5	GATA3	chr12:1361736-1362586	SK-N-SH	brain:	n/a	n/a
6	GATA3	chr12:1361529-1361713	SH-SY5Y	brain:	n/a	n/a
7	GATA3	chr12:1362212-1362512	SH-SY5Y	brain:	n/a	n/a
8	GATA3	chr12:1361651-1362701	SK-N-SH	brain:	n/a	n/a
9	JUND	chr12:1361853-1362505	SK-N-SH	brain:	n/a	n/a
10	MAFF	chr12:1365463-1365837	HepG2	liver:	n/a	chr12:1365637-1365655
11	MAFF	chr12:1365489-1365825	K562	blood:	n/a	chr12:1365637-1365655
12	MAFK	chr12:1365519-1365817	Hela-S3	cervix:	n/a	chr12:1365638-1365652 chr12:1365642-1365658 chr12:1365639-1365655 chr12:1365639-1365654 chr12:1365640-1365660
13	MAFK	chr12:1365467-1365822	IMR90	lung:	n/a	chr12:1365638-1365652 chr12:1365642-1365658 chr12:1365639-1365655 chr12:1365639-1365654 chr12:1365640-1365660
14	MAFK	chr12:1365487-1365824	K562	blood:	n/a	chr12:1365638-1365652 chr12:1365642-1365658 chr12:1365639-1365655 chr12:1365639-1365654 chr12:1365640-1365660
15	MAFK	chr12:1365465-1365838	HepG2	liver:	n/a	chr12:1365638-1365652 chr12:1365642-1365658 chr12:1365639-1365655 chr12:1365639-1365654 chr12:1365640-1365660
16	MAFK	chr12:1365480-1365834	H1-hESC	embryonic stem cell:	n/a	chr12:1365638-1365652 chr12:1365642-1365658 chr12:1365639-1365655 chr12:1365639-1365654 chr12:1365640-1365660
17	MAFK	chr12:1365479-1365830	HepG2	liver:	n/a	chr12:1365638-1365652 chr12:1365642-1365658 chr12:1365639-1365655 chr12:1365639-1365654 chr12:1365640-1365660
18	MXI1	chr12:1365976-1366048	GM12878	blood:	n/a	n/a
19	NFIC	chr12:1361860-1362435	SK-N-SH	brain:	n/a	n/a
20	PBX3	chr12:1361876-1362533	SK-N-SH	brain:	n/a	n/a
21	PBX3	chr12:1361773-1362460	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr12:1364512-1364559	ProgFib	skin:	n/a	n/a
23	POLR2A	chr12:1361780-1362489	H1-neurons	neurons:	n/a	n/a
24	POLR2A	chr12:1364140-1364340	ProgFib	skin:	n/a	n/a
25	POLR2A	chr12:1363740-1363803	A549	lung:	n/a	n/a
26	POLR2A	chr12:1366175-1366411	A549	lung:	n/a	n/a
27	POLR2A	chr12:1361998-1362338	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr12:1361867-1362488	H1-neurons	neurons:	n/a	n/a
29	POLR2A	chr12:1361763-1362431	SK-N-SH	brain:	n/a	n/a
30	RAD21	chr12:1361744-1362490	SK-N-SH_RA	brain:	n/a	n/a
31	RAD21	chr12:1361827-1362429	SK-N-SH_RA	brain:	n/a	n/a
32	REST	chr12:1362021-1362498	H1-neurons	neurons:	n/a	n/a
33	TCF12	chr12:1361646-1362512	SK-N-SH	brain:	n/a	n/a
34	TCF12	chr12:1361660-1362559	SK-N-SH	brain:	n/a	n/a
35	TEAD4	chr12:1361790-1362471	SK-N-SH	brain:	n/a	n/a
36	TEAD4	chr12:1361852-1362534	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:1360740..1362305-chr12:1366547..1369167,2	K562	blood:
2	chr12:1357106..1358885-chr12:1361378..1363992,2	MCF-7	breast:

Variant related genes	Relation type
ERC1	TF binding region

Extended variants
information (count: 222 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:222 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17800876	chr12:1360880-1360881	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs539393569	chr12:1360881-1360882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560078133	chr12:1360895-1360896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191059982	chr12:1360943-1360944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182249294	chr12:1360972-1360973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs56063259	chr12:1361035-1361036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs56190727	chr12:1361038-1361039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549059377	chr12:1361052-1361053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185008021	chr12:1361070-1361071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs55830004	chr12:1361071-1361072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139076010	chr12:1361185-1361186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569470517	chr12:1361188-1361189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540088644	chr12:1361240-1361241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs75085014	chr12:1361252-1361253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190991409	chr12:1361263-1361264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534337120	chr12:1361333-1361334	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs61912028	chr12:1361349-1361350	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs574140317	chr12:1361370-1361371	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs147022533	chr12:1361382-1361383	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs138197173	chr12:1361434-1361435	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs577894852	chr12:1361469-1361470	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs545266639	chr12:1361481-1361482	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs559942056	chr12:1361538-1361539	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs372138154	chr12:1361576-1361577	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs183223461	chr12:1361601-1361602	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs188536322	chr12:1361639-1361640	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs73595918	chr12:1361678-1361679	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs73027442	chr12:1361686-1361687	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs12317478	chr12:1361698-1361699	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs141766646	chr12:1361700-1361701	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs567437496	chr12:1361723-1361724	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs533481581	chr12:1361724-1361725	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs552048870	chr12:1361794-1361795	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs113215000	chr12:1361805-1361806	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs534192785	chr12:1361813-1361814	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs549371035	chr12:1361830-1361831	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs567778216	chr12:1361839-1361840	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs538326425	chr12:1361840-1361841	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs556113304	chr12:1361858-1361859	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs74059715	chr12:1361859-1361860	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs558536050	chr12:1361900-1361901	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs138571543	chr12:1361912-1361913	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs554045716	chr12:1361915-1361916	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs571965623	chr12:1361935-1361936	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs542234538	chr12:1361975-1361976	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs560511453	chr12:1361986-1361987	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs575763569	chr12:1362003-1362004	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs576677212	chr12:1362015-1362016	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs543479872	chr12:1362031-1362032	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs193162742	chr12:1362067-1362068	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
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
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1316800-1366200	Weak transcription	Primary B cells from cord blood	blood
2	chr12:1327200-1391200	Weak transcription	Aorta	Aorta
3	chr12:1329200-1366200	Weak transcription	Lung	lung
4	chr12:1330200-1390600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:1330200-1391400	Weak transcription	Fetal Muscle Leg	muscle
6	chr12:1330400-1372200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:1330400-1373200	Weak transcription	Hela-S3	cervix
8	chr12:1334200-1425000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:1341400-1373000	Weak transcription	Fetal Intestine Small	intestine
10	chr12:1341800-1420000	Weak transcription	Esophagus	oesophagus
11	chr12:1343600-1372000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:1343600-1372000	Weak transcription	Fetal Heart	heart
13	chr12:1343600-1378000	Weak transcription	Gastric	stomach
14	chr12:1343600-1381400	Weak transcription	Right Ventricle	heart
15	chr12:1343600-1390600	Weak transcription	NHLF	lung
16	chr12:1343600-1398800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr12:1343800-1377800	Weak transcription	A549	lung
18	chr12:1343800-1390800	Weak transcription	HSMMtube	muscle
19	chr12:1344800-1375000	Weak transcription	Fetal Thymus	thymus
20	chr12:1345000-1382800	Weak transcription	Spleen	Spleen
21	chr12:1346000-1372000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr12:1346200-1372000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:1346400-1375800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr12:1346800-1366000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:1346800-1372200	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr12:1347000-1365600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr12:1347000-1366000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr12:1347000-1366000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr12:1347000-1366200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr12:1347000-1372200	Weak transcription	Left Ventricle	heart
31	chr12:1347000-1375600	Weak transcription	Brain Germinal Matrix	brain
32	chr12:1347000-1392000	Weak transcription	Psoas Muscle	Psoas
33	chr12:1347200-1366000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:1347200-1366000	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr12:1347200-1371200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr12:1347200-1371800	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr12:1347200-1371800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr12:1347200-1374000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr12:1347200-1374600	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr12:1347600-1366000	Weak transcription	Liver	Liver
41	chr12:1348000-1370200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:1348000-1372000	Weak transcription	Primary B cells from peripheral blood	blood
43	chr12:1348400-1389600	Weak transcription	NHDF-Ad	bronchial
44	chr12:1348600-1372800	Weak transcription	Fetal Intestine Large	intestine
45	chr12:1348800-1366000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:1348800-1366000	Weak transcription	Ovary	ovary
47	chr12:1348800-1372000	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr12:1348800-1372000	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr12:1348800-1373000	Weak transcription	Fetal Stomach	stomach
50	chr12:1349000-1365800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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