Variant report

Variant	esv20811
Chromosome Location	chr12:34271536-34277138
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:34275135..34276661-chr12:34371105..34372093,8	K562	blood:
2	chr12:34275679..34276702-chr12:34339057..34340086,5	MCF-7	breast:
3	chr12:34275660..34276572-chr12:34778082..34778680,2	MCF-7	breast:
4	chr12:34276079..34276686-chr12:34371078..34371813,4	MCF-7	breast:
5	chr12:34275751..34276656-chr12:34370666..34371823,3	MCF-7	breast:
6	chr12:34275776..34276287-chr12:34445928..34446780,2	MCF-7	breast:
7	chr12:34275803..34276751-chr12:34446099..34446740,3	K562	blood:
8	chr12:34275785..34276629-chr12:34339119..34339912,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255652	chromatin interactions

Extended variants
information (count: 227 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:227 , 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	rs11053129	chr12:34271549-34271550	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs527726663	chr12:34271550-34271551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78121066	chr12:34271579-34271580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs193209246	chr12:34272238-34272239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542915957	chr12:34272245-34272246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565722278	chr12:34272272-34272273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7304179	chr12:34272299-34272300	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs572530797	chr12:34272303-34272304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184745740	chr12:34272304-34272305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551591402	chr12:34272308-34272309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200809451	chr12:34272317-34272318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571400530	chr12:34272388-34272389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576682875	chr12:34272397-34272398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527357303	chr12:34272448-34272449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188027024	chr12:34272485-34272486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572136642	chr12:34272502-34272503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs74075723	chr12:34272528-34272529	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs550536807	chr12:34272574-34272575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376995637	chr12:34272638-34272639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562779134	chr12:34272640-34272641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535826580	chr12:34272665-34272666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556862756	chr12:34272687-34272688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115170698	chr12:34272733-34272734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539258144	chr12:34272811-34272812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs61278335	chr12:34272827-34272828	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs373058377	chr12:34272833-34272834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141286774	chr12:34272850-34272851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs58335923	chr12:34272859-34272860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs574777820	chr12:34272871-34272872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543446101	chr12:34272891-34272892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150349788	chr12:34272912-34272913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531491058	chr12:34272918-34272919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146802035	chr12:34272995-34272996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548691690	chr12:34272996-34272997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138761684	chr12:34272999-34273000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147137464	chr12:34273004-34273005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139774578	chr12:34273006-34273007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146745709	chr12:34273008-34273009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148044488	chr12:34273009-34273010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114992142	chr12:34273024-34273025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138104106	chr12:34273035-34273036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146324553	chr12:34273038-34273039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145093946	chr12:34273039-34273040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs180932972	chr12:34273067-34273068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201278122	chr12:34273081-34273082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79332164	chr12:34273091-34273092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77283827	chr12:34273096-34273097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79899142	chr12:34273137-34273138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547520401	chr12:34273155-34273156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116040457	chr12:34273160-34273161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chordoma	18071362	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34271200-34271600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr12:34272200-34272800	Enhancers	Adipose Nuclei	Adipose
3	chr12:34272800-34275200	Weak transcription	Adipose Nuclei	Adipose
4	chr12:34274200-34274600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr12:34274200-34275200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr12:34275000-34275800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:34275200-34275800	Enhancers	Adipose Nuclei	Adipose
8	chr12:34275200-34275800	Enhancers	Placenta	Placenta
9	chr12:34275800-34276200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr12:34275800-34278600	Weak transcription	Adipose Nuclei	Adipose
11	chr12:34275800-34278600	Weak transcription	Placenta	Placenta
12	chr12:34276600-34276800	Enhancers	Lung	lung
13	chr12:34276600-34276800	Enhancers	K562	blood
14	chr12:34276800-34277600	Weak transcription	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links