Variant report

Variant	esv991250
Chromosome Location	chr12:74904557-74913702
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:74886784..74889473-chr12:74901933..74904935,3	MCF-7	breast:
2	chr12:74908557..74911203-chr12:74911419..74914670,3	MCF-7	breast:
3	chr12:74908557..74911203-chr12:74911419..74914670,3	MCF-7	breast:
4	chr12:74902868..74904501-chr12:74905941..74907973,2	K562	blood:
5	chr12:74901834..74903505-chr12:74911073..74913080,2	MCF-7	breast:
6	chr12:74905829..74910611-chr12:74911058..74915659,4	K562	blood:
7	chr12:74904398..74905899-chr12:74909563..74911082,2	MCF-7	breast:
8	chr12:74905829..74910611-chr12:74911058..74915659,4	K562	blood:
9	chr12:74901878..74904719-chr12:74924650..74926216,2	K562	blood:
10	chr12:74913004..74915768-chr12:74921096..74922965,2	K562	blood:
11	chr12:74883702..74885504-chr12:74913172..74915992,2	K562	blood:
12	chr12:74912802..74915394-chr12:74916118..74917962,2	K562	blood:
13	chr12:74904398..74905899-chr12:74909563..74911082,2	MCF-7	breast:
14	chr12:74907509..74911440-chr12:74920218..74923279,3	K562	blood:
15	chr12:74905173..74906711-chr12:74917835..74920721,2	K562	blood:

No data

Extended variants
information (count: 212 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:212 , 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	rs373432114	chr12:74904587-74904588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs17113564	chr12:74904625-74904626	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs546104929	chr12:74904626-74904627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149499829	chr12:74904739-74904740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569037946	chr12:74904876-74904877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144158272	chr12:74904882-74904883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148682967	chr12:74904885-74904886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561744371	chr12:74904886-74904887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs17113566	chr12:74904912-74904913	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs7958325	chr12:74904931-74904932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571875492	chr12:74905019-74905020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146192744	chr12:74905076-74905077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533191200	chr12:74905119-74905120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540351789	chr12:74905161-74905162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186075442	chr12:74905166-74905167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531480588	chr12:74905170-74905171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374071550	chr12:74905181-74905182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189551439	chr12:74905182-74905183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532741169	chr12:74905193-74905194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549515687	chr12:74905227-74905228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566157987	chr12:74905303-74905304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139081209	chr12:74905308-74905309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553938052	chr12:74905344-74905345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576897709	chr12:74905355-74905356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4630358	chr12:74905362-74905363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144067543	chr12:74905420-74905421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539485743	chr12:74905466-74905467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7958966	chr12:74905471-74905472	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs60209435	chr12:74905478-74905479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111565687	chr12:74905503-74905504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10506695	chr12:74905550-74905551	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs571935119	chr12:74905551-74905552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541108114	chr12:74905584-74905585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181826463	chr12:74905586-74905587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77926719	chr12:74905602-74905603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532043772	chr12:74905603-74905604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549720309	chr12:74905658-74905659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186466824	chr12:74905668-74905669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529557583	chr12:74905705-74905706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549434598	chr12:74905767-74905768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566241800	chr12:74905783-74905784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs367655267	chr12:74905860-74905861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535274048	chr12:74905877-74905878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190455190	chr12:74905949-74905950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570514236	chr12:74905998-74905999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10785127	chr12:74905999-74906000	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs2613888	chr12:74906049-74906050	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs547495773	chr12:74906085-74906086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567233957	chr12:74906091-74906092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575968435	chr12:74906156-74906157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Wilms tumour	21544195	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
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
Neurodevelopmental disorder	22521361	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
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	17133270	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	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
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74903400-74904600	Enhancers	A549	lung
2	chr12:74903600-74908000	Weak transcription	K562	blood
3	chr12:74908000-74908200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:74908000-74908200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:74908000-74908200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:74908000-74908200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
7	chr12:74908000-74908400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:74908000-74908400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:74908000-74908400	Flanking Active TSS	K562	blood
10	chr12:74908200-74908400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr12:74908200-74909000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:74908400-74908600	Enhancers	K562	blood
13	chr12:74908400-74909000	Enhancers	Stomach Mucosa	stomach
14	chr12:74909000-74909400	Weak transcription	Stomach Mucosa	stomach
15	chr12:74909400-74910200	Enhancers	Stomach Mucosa	stomach
16	chr12:74909600-74910000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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