Variant report

Variant	esv3492815
Chromosome Location	chr12:34271034-34280685
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:34277684..34280343-chr12:34367543..34370316,2	K562	blood:
2	chr12:34279057..34280887-chr12:34440053..34441876,2	K562	blood:
3	chr12:34275776..34276287-chr12:34445928..34446780,2	MCF-7	breast:
4	chr12:34275679..34276702-chr12:34339057..34340086,5	MCF-7	breast:
5	chr12:34277684..34281105-chr12:34367413..34370316,3	K562	blood:
6	chr12:34275135..34276661-chr12:34371105..34372093,8	K562	blood:
7	chr12:34275751..34276656-chr12:34370666..34371823,3	MCF-7	breast:
8	chr12:34275785..34276629-chr12:34339119..34339912,4	MCF-7	breast:
9	chr12:34275660..34276572-chr12:34778082..34778680,2	MCF-7	breast:
10	chr12:34275803..34276751-chr12:34446099..34446740,3	K562	blood:
11	chr12:34276079..34276686-chr12:34371078..34371813,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255652	chromatin interactions

Extended variants
information (count: 402 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:402 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201506344	chr12:34271225-34271226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs199506336	chr12:34271227-34271228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568889916	chr12:34271228-34271229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537966310	chr12:34271240-34271241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116820731	chr12:34271254-34271255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577720060	chr12:34271294-34271295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200303770	chr12:34271302-34271303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs55849004	chr12:34271304-34271305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533720014	chr12:34271306-34271307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs199858797	chr12:34271307-34271308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs398044322	chr12:34271309-34271310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554552776	chr12:34271315-34271316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141187097	chr12:34271328-34271329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73094256	chr12:34271394-34271395	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs563075754	chr12:34271463-34271464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11524019	chr12:34271473-34271474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568725552	chr12:34271491-34271492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372405660	chr12:34271515-34271516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576527493	chr12:34271520-34271521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368837259	chr12:34271529-34271530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201194539	chr12:34271534-34271535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11053129	chr12:34271549-34271550	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs527726663	chr12:34271550-34271551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs78121066	chr12:34271579-34271580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs193209246	chr12:34272238-34272239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542915957	chr12:34272245-34272246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565722278	chr12:34272272-34272273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs7304179	chr12:34272299-34272300	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs572530797	chr12:34272303-34272304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184745740	chr12:34272304-34272305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551591402	chr12:34272308-34272309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200809451	chr12:34272317-34272318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571400530	chr12:34272388-34272389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576682875	chr12:34272397-34272398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs527357303	chr12:34272448-34272449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188027024	chr12:34272485-34272486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572136642	chr12:34272502-34272503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74075723	chr12:34272528-34272529	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs550536807	chr12:34272574-34272575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376995637	chr12:34272638-34272639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562779134	chr12:34272640-34272641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535826580	chr12:34272665-34272666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556862756	chr12:34272687-34272688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115170698	chr12:34272733-34272734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539258144	chr12:34272811-34272812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61278335	chr12:34272827-34272828	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs373058377	chr12:34272833-34272834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141286774	chr12:34272850-34272851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs58335923	chr12:34272859-34272860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs574777820	chr12:34272871-34272872	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:135 , 50 per page) page: 1 2 3

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
15	chr12:34277400-34278600	Enhancers	Liver	Liver
16	chr12:34277600-34277800	Enhancers	K562	blood
17	chr12:34277800-34278600	Weak transcription	K562	blood
18	chr12:34278400-34278600	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr12:34278600-34278800	Enhancers	Primary T cells fromperipheralblood	blood
20	chr12:34278600-34278800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr12:34278600-34278800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr12:34278600-34278800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr12:34278600-34278800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:34278600-34278800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:34278600-34278800	Enhancers	Adipose Nuclei	Adipose
26	chr12:34278600-34278800	Enhancers	Ovary	ovary
27	chr12:34278600-34278800	Flanking Active TSS	HepG2	liver
28	chr12:34278600-34279000	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr12:34278600-34279000	Enhancers	Primary B cells from peripheral blood	blood
30	chr12:34278600-34279000	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr12:34278600-34279000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr12:34278600-34279000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr12:34278600-34279000	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr12:34278600-34279000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr12:34278600-34279000	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr12:34278600-34279000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr12:34278600-34279000	Flanking Active TSS	Liver	Liver
38	chr12:34278600-34279000	Enhancers	Placenta	Placenta
39	chr12:34278600-34279000	Enhancers	K562	blood
40	chr12:34278600-34279200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr12:34278600-34279200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:34278600-34279200	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr12:34278600-34279400	Active TSS	Right Atrium	heart
44	chr12:34278600-34279800	Enhancers	Lung	lung
45	chr12:34278800-34279000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr12:34278800-34279000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr12:34278800-34279000	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr12:34278800-34279000	Flanking Active TSS	Left Ventricle	heart
49	chr12:34278800-34279000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
50	chr12:34278800-34279000	Enhancers	Dnd41	blood

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