Variant report

Variant	esv3493151
Chromosome Location	chr12:121401525-121402069
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121401463..121403474-chr12:121406949..121408762,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71076693	chr12:121401648-121401649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113296670	chr12:121401693-121401694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111357179	chr12:121401703-121401704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569476966	chr12:121401710-121401711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs386766998	chr12:121401713-121401714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12321757	chr12:121401731-121401732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375056259	chr12:121401747-121401748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs386766999	chr12:121401753-121401754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373018537	chr12:121401767-121401768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs386767000	chr12:121401800-121401801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370479908	chr12:121401801-121401802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555293544	chr12:121401807-121401808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7966322	chr12:121401846-121401847	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs386767001	chr12:121401855-121401856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533947710	chr12:121401867-121401868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368685843	chr12:121401873-121401874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370890219	chr12:121401877-121401878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558130398	chr12:121401880-121401881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs578128525	chr12:121401881-121401882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs386767003	chr12:121401887-121401888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374527910	chr12:121401892-121401893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377572675	chr12:121401896-121401897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540445024	chr12:121401897-121401898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs367826880	chr12:121401898-121401899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554258224	chr12:121401913-121401914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574166931	chr12:121401927-121401928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111931605	chr12:121401955-121401956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200718498	chr12:121401964-121401965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201717615	chr12:121401966-121401967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543072586	chr12:121401968-121401969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7301100	chr12:121401973-121401974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562867987	chr12:121401986-121401987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531677629	chr12:121401995-121401996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7966576	chr12:121402058-121402059	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:75)

Disease	PMID	Source
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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121394600-121408200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:121395800-121408200	Weak transcription	Fetal Kidney	kidney
3	chr12:121397600-121406800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:121397800-121405400	Weak transcription	Pancreas	Pancrea
5	chr12:121399400-121401600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:121399600-121403200	Weak transcription	Thymus	Thymus
7	chr12:121400000-121402200	Weak transcription	Esophagus	oesophagus
8	chr12:121400000-121405400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:121400000-121406600	Weak transcription	Gastric	stomach
10	chr12:121400400-121404800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr12:121400600-121403200	Weak transcription	Stomach Mucosa	stomach
12	chr12:121400600-121403400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr12:121400600-121404800	Weak transcription	Fetal Intestine Large	intestine
14	chr12:121400600-121416000	Weak transcription	Small Intestine	intestine
15	chr12:121400800-121403600	Weak transcription	Colonic Mucosa	Colon
16	chr12:121400800-121406600	Weak transcription	A549	lung
17	chr12:121400800-121406600	Weak transcription	HepG2	liver
18	chr12:121401000-121402200	Weak transcription	Fetal Intestine Small	intestine
19	chr12:121401400-121401600	Enhancers	Liver	Liver
20	chr12:121401400-121401600	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr12:121401400-121403400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:121401600-121403600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr12:121401600-121406600	Weak transcription	Liver	Liver

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