Variant report

Variant	esv3507410
Chromosome Location	chr12:121614996-121617380
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121613752..121616874-chr12:121617390..121620030,3	K562	blood:
2	chr12:121612772..121615002-chr12:121621675..121623747,2	K562	blood:
3	chr12:121612601..121615211-chr12:121633232..121635825,2	MCF-7	breast:

Extended variants
information (count: 103 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201345514	chr12:121615011-121615012	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs199649147	chr12:121615015-121615016	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200995307	chr12:121615040-121615041	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556740374	chr12:121615043-121615044	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568658842	chr12:121615052-121615053	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368885357	chr12:121615065-121615066	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201650139	chr12:121615068-121615069	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373584182	chr12:121615078-121615079	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190080059	chr12:121615079-121615080	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200625816	chr12:121615102-121615103	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1718119	chr12:121615103-121615104	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs200138583	chr12:121615126-121615127	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2230911	chr12:121615131-121615132	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs201921967	chr12:121615143-121615144	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201698974	chr12:121615151-121615152	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200088396	chr12:121615152-121615153	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs61743820	chr12:121615161-121615162	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201385229	chr12:121615168-121615169	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377278666	chr12:121615183-121615184	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558251112	chr12:121615192-121615193	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201966161	chr12:121615223-121615224	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200303632	chr12:121615227-121615228	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148113984	chr12:121615248-121615249	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1653598	chr12:121615283-121615284	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs200485794	chr12:121615289-121615290	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181289382	chr12:121615304-121615305	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574247079	chr12:121615359-121615360	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185599508	chr12:121615363-121615364	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560363038	chr12:121615364-121615365	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11065468	chr12:121615369-121615370	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs373438932	chr12:121615397-121615398	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140201550	chr12:121615490-121615491	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372718691	chr12:121615491-121615492	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548793061	chr12:121615535-121615536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188341582	chr12:121615558-121615559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531776849	chr12:121615592-121615593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12366304	chr12:121615629-121615630	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs79623919	chr12:121615641-121615642	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142839103	chr12:121615687-121615688	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545813648	chr12:121615693-121615694	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs180801197	chr12:121615733-121615734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7137047	chr12:121615786-121615787	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs186524565	chr12:121615891-121615892	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146068664	chr12:121615919-121615920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558470208	chr12:121615955-121615956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373373255	chr12:121615988-121615989	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79278143	chr12:121615996-121615997	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562339995	chr12:121616009-121616010	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142255345	chr12:121616024-121616025	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369184523	chr12:121616044-121616045	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121571800-121623200	Weak transcription	Colonic Mucosa	Colon
2	chr12:121583000-121634600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr12:121583800-121623600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr12:121583800-121634400	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr12:121584600-121626600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:121586200-121623600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr12:121594200-121627600	Weak transcription	Right Ventricle	heart
8	chr12:121596200-121622200	Weak transcription	Esophagus	oesophagus
9	chr12:121596200-121625600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:121596200-121629000	Weak transcription	Left Ventricle	heart
11	chr12:121596400-121634200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:121597800-121625600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr12:121599000-121617200	Weak transcription	Fetal Stomach	stomach
14	chr12:121602400-121634600	Weak transcription	Fetal Thymus	thymus
15	chr12:121603800-121623600	Weak transcription	Fetal Intestine Small	intestine
16	chr12:121604000-121615800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr12:121604200-121619800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:121604400-121622200	Weak transcription	Lung	lung
19	chr12:121605000-121623400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr12:121605400-121615000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr12:121610800-121628800	Weak transcription	Right Atrium	heart
22	chr12:121612200-121617200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:121612400-121615400	Strong transcription	Primary T cells from cord blood	blood
24	chr12:121612400-121615400	Genic enhancers	Brain Inferior Temporal Lobe	brain
25	chr12:121612600-121615400	Genic enhancers	Primary monocytes fromperipheralblood	blood
26	chr12:121612600-121617200	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr12:121612600-121630200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:121613000-121615000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:121613200-121615400	Strong transcription	Brain Substantia Nigra	brain
30	chr12:121613200-121615400	Enhancers	K562	blood
31	chr12:121613400-121619000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:121613600-121615000	Weak transcription	Primary B cells from peripheral blood	blood
33	chr12:121613600-121615600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr12:121613600-121617000	Strong transcription	Stomach Smooth Muscle	stomach
35	chr12:121613800-121615400	Strong transcription	Brain Anterior Caudate	brain
36	chr12:121613800-121622000	Weak transcription	Fetal Brain Male	brain
37	chr12:121614000-121615000	Weak transcription	Brain Hippocampus Middle	brain
38	chr12:121614000-121615200	Genic enhancers	Monocytes-CD14+_RO01746	blood
39	chr12:121614000-121619000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:121614000-121623000	Weak transcription	Primary B cells from cord blood	blood
41	chr12:121614000-121634600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:121614200-121618000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr12:121614200-121620600	Strong transcription	Brain Cingulate Gyrus	brain
44	chr12:121614200-121622200	Weak transcription	Pancreas	Pancrea
45	chr12:121614200-121624000	Weak transcription	Colon Smooth Muscle	Colon
46	chr12:121614200-121628800	Weak transcription	Adipose Nuclei	Adipose
47	chr12:121614400-121619800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr12:121614400-121620600	Strong transcription	Liver	Liver
49	chr12:121614600-121615400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr12:121614600-121615400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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