Variant report

Variant	esv3362202
Chromosome Location	chr12:29512585-29514583
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	CEBPB	chr12:29514064-29514233	K562	blood:	n/a	n/a
2	CTCF	chr12:29513999-29514017	GM20000	blood:	n/a	n/a
3	CTCF	chr12:29513986-29513991	GM20000	blood:	n/a	n/a
4	POLR2A	chr12:29512918-29513050	GM12878	blood:	n/a	n/a
5	POLR2A	chr12:29513146-29513233	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:29489097..29490633-chr12:29512483..29514735,2	K562	blood:
2	chr12:29514507..29517098-chr12:29519955..29522793,2	K562	blood:
3	chr12:29504698..29507288-chr12:29512167..29514486,2	MCF-7	breast:
4	chr12:29301582..29303959-chr12:29510766..29513729,2	K562	blood:

Variant related genes	Relation type
ERGIC2	TF binding region
ENSG00000064763	chromatin interactions
ENSG00000257258	chromatin interactions

Extended variants
information (count: 70 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536409398	chr12:29512591-29512592	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs111301066	chr12:29512597-29512598	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs111875361	chr12:29512679-29512680	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs576055447	chr12:29512681-29512682	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs373904213	chr12:29512692-29512693	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs143000975	chr12:29512707-29512708	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs180712834	chr12:29512767-29512768	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs577236744	chr12:29512910-29512911	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs151114782	chr12:29512914-29512915	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs140186953	chr12:29512925-29512926	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs11610197	chr12:29512940-29512941	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs574691731	chr12:29512964-29512965	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs113878433	chr12:29512997-29512998	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs541612166	chr12:29513033-29513034	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs371090952	chr12:29513048-29513049	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs550795140	chr12:29513089-29513090	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs567245514	chr12:29513167-29513168	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs537402408	chr12:29513179-29513180	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs531697781	chr12:29513213-29513214	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs183685394	chr12:29513232-29513233	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs190437587	chr12:29513233-29513234	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs571747469	chr12:29513278-29513279	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs532339742	chr12:29513287-29513288	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs547696049	chr12:29513313-29513314	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs565987795	chr12:29513335-29513336	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs559124859	chr12:29513352-29513353	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs530279685	chr12:29513353-29513354	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs4931174	chr12:29513478-29513479	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs577674338	chr12:29513558-29513559	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs569763667	chr12:29513570-29513571	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs182154863	chr12:29513577-29513578	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs536723456	chr12:29513578-29513579	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs201281666	chr12:29513585-29513586	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs375807371	chr12:29513649-29513650	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs76383097	chr12:29513701-29513702	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs34526565	chr12:29513793-29513794	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs186962702	chr12:29513836-29513837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553306096	chr12:29513855-29513856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548225556	chr12:29513894-29513895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111796433	chr12:29513895-29513896	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574780647	chr12:29513920-29513921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191710836	chr12:29513932-29513933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11050209	chr12:29513949-29513950	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs544721019	chr12:29513955-29513956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543569920	chr12:29513996-29513997	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371226368	chr12:29514051-29514052	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146713851	chr12:29514066-29514067	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs532376370	chr12:29514088-29514089	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs11050210	chr12:29514111-29514112	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs181211470	chr12:29514114-29514115	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29427200-29527400	Weak transcription	Small Intestine	intestine
2	chr12:29462600-29533000	Weak transcription	Aorta	Aorta
3	chr12:29470800-29532800	Weak transcription	Right Ventricle	heart
4	chr12:29473800-29522600	Weak transcription	NHEK	skin
5	chr12:29476200-29512800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:29476200-29533400	Weak transcription	Pancreas	Pancrea
7	chr12:29476400-29532600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:29476400-29533200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:29477000-29517800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:29483400-29518000	Weak transcription	Brain Hippocampus Middle	brain
11	chr12:29484200-29532000	Weak transcription	Fetal Brain Male	brain
12	chr12:29485600-29533400	Weak transcription	Gastric	stomach
13	chr12:29486800-29528600	Weak transcription	Psoas Muscle	Psoas
14	chr12:29487000-29533000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:29488800-29532000	Weak transcription	NHLF	lung
16	chr12:29489600-29525600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:29490000-29533400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:29490000-29533400	Weak transcription	Esophagus	oesophagus
19	chr12:29490400-29524600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:29492400-29518000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:29492800-29519000	Weak transcription	HepG2	liver
22	chr12:29493600-29532600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr12:29494400-29517800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr12:29494400-29532400	Weak transcription	Brain Substantia Nigra	brain
25	chr12:29494600-29532800	Weak transcription	Colonic Mucosa	Colon
26	chr12:29496400-29518000	Weak transcription	Brain Anterior Caudate	brain
27	chr12:29496400-29518000	Weak transcription	Thymus	Thymus
28	chr12:29496400-29532200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr12:29496600-29517800	Weak transcription	NH-A	brain
30	chr12:29496800-29519000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr12:29497400-29532400	Weak transcription	Fetal Heart	heart
32	chr12:29497600-29518200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr12:29498000-29515800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr12:29499000-29532400	Weak transcription	Fetal Brain Female	brain
35	chr12:29499200-29518200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:29499200-29526600	Weak transcription	Stomach Mucosa	stomach
37	chr12:29500200-29533400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr12:29500600-29517800	Weak transcription	Fetal Muscle Leg	muscle
39	chr12:29500600-29518000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:29501000-29518000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr12:29502000-29518000	Weak transcription	A549	lung
42	chr12:29502200-29518200	Weak transcription	Hela-S3	cervix
43	chr12:29502800-29517800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr12:29503000-29513000	Strong transcription	Primary B cells from cord blood	blood
45	chr12:29503200-29518200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr12:29503400-29532200	Weak transcription	HSMMtube	muscle
47	chr12:29504200-29523000	Weak transcription	Colon Smooth Muscle	Colon
48	chr12:29504200-29525800	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr12:29505000-29516200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:29505000-29532400	Weak transcription	Brain Angular Gyrus	brain

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