Variant report

Variant	esv275003
Chromosome Location	chr12:86880778-86890003
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	chr12:86873477..86875774-chr12:86880255..86882982,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MGAT4C-1	chr12:86889028-86889092	NONHSAT029762

Extended variants
information (count: 185 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:185 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17014026	chr12:86880778-86880779	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531295392	chr12:86880821-86880822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369577820	chr12:86880842-86880843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148055777	chr12:86880883-86880884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs193167297	chr12:86880934-86880935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559693751	chr12:86880961-86880962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529970723	chr12:86880970-86880971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183313344	chr12:86880980-86880981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188266514	chr12:86880990-86880991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530679614	chr12:86881029-86881030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552313378	chr12:86881078-86881079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570601546	chr12:86881133-86881134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528192815	chr12:86881154-86881155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192567176	chr12:86881233-86881234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568033729	chr12:86881241-86881242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112676416	chr12:86881248-86881249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78377937	chr12:86881283-86881284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555215621	chr12:86881321-86881322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560468412	chr12:86881322-86881323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570156968	chr12:86881329-86881330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537204708	chr12:86881371-86881372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558715396	chr12:86881373-86881374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1955399	chr12:86881383-86881384	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs541103799	chr12:86881396-86881397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553109586	chr12:86881461-86881462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183960614	chr12:86881505-86881506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371289359	chr12:86881534-86881535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541764587	chr12:86881569-86881570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150499524	chr12:86881626-86881627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563561352	chr12:86881628-86881629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369943510	chr12:86881631-86881632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188350008	chr12:86881641-86881642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371316306	chr12:86881728-86881729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191204433	chr12:86881749-86881750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577067167	chr12:86881776-86881777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184823264	chr12:86881785-86881786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7961251	chr12:86881828-86881829	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs546639152	chr12:86881847-86881848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190250483	chr12:86881906-86881907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550133565	chr12:86881915-86881916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528834180	chr12:86881932-86881933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73191482	chr12:86881944-86881945	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs570364897	chr12:86882023-86882024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565964311	chr12:86882027-86882028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375231080	chr12:86882029-86882030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11611586	chr12:86882068-86882069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111370543	chr12:86882074-86882075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552380053	chr12:86882083-86882084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182071911	chr12:86882103-86882104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1922743	chr12:86882118-86882119	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:63)

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
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
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
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86878600-86882800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:86882800-86883600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:86888600-86890000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr12:86888800-86889400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr12:86889000-86889400	Enhancers	Brain Germinal Matrix	brain
6	chr12:86889200-86890000	Enhancers	H9 Cell Line	embryonic stem cell
7	chr12:86889200-86890000	Enhancers	HUES6 Cell Line	embryonic stem cell

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