Variant report

Variant	esv3431364
Chromosome Location	chr12:21083734-21148726
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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:21103010..21104123-chr12:21218514..21219449,3	MCF-7	breast:
2	chr12:21102918..21103853-chr12:21322562..21323307,3	MCF-7	breast:
3	chr12:21099420..21100309-chr12:21218592..21219170,2	MCF-7	breast:
4	chr12:21099378..21100255-chr12:21322524..21323110,2	MCF-7	breast:
5	chr12:21099355..21100332-chr12:21322634..21323175,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLCO1A2-5	chr12:21083248-21084757	NONHSAT027238

No data

Extended variants
information (count: 1694 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1694 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369855922	chr12:21083742-21083743	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs559217817	chr12:21083763-21083764	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs145002547	chr12:21083802-21083803	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs34528898	chr12:21083836-21083837	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs544725383	chr12:21083837-21083838	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs149104283	chr12:21083862-21083863	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs568342912	chr12:21083864-21083865	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs534144986	chr12:21083879-21083880	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs148281521	chr12:21083901-21083902	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs186218821	chr12:21083909-21083910	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs556564468	chr12:21083918-21083919	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs576348080	chr12:21083966-21083967	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs142740816	chr12:21083971-21083972	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs554884595	chr12:21083974-21083975	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs574758079	chr12:21083976-21083977	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs540451928	chr12:21084007-21084008	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs77553491	chr12:21084029-21084030	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs145025062	chr12:21084050-21084051	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs191537488	chr12:21084099-21084100	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs11045604	chr12:21084138-21084139	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs181588748	chr12:21084179-21084180	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs34423169	chr12:21084222-21084223	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs547754582	chr12:21084229-21084230	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs138860709	chr12:21084268-21084269	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs11045605	chr12:21084286-21084287	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs113651776	chr12:21084409-21084410	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs186164466	chr12:21084421-21084422	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs529939309	chr12:21084426-21084427	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs570951785	chr12:21084445-21084446	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs191063459	chr12:21084458-21084459	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs79137285	chr12:21084465-21084466	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs374754176	chr12:21084502-21084503	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs539960342	chr12:21084544-21084545	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs549989410	chr12:21084598-21084599	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs556914376	chr12:21084623-21084624	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs182095586	chr12:21084637-21084638	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs187842829	chr12:21084644-21084645	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs368578111	chr12:21084689-21084690	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs60640489	chr12:21084699-21084700	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs546756424	chr12:21084710-21084711	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs372848295	chr12:21084712-21084713	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs566090062	chr12:21084744-21084745	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs117910148	chr12:21084762-21084763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568375613	chr12:21084796-21084797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534035740	chr12:21084807-21084808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553981466	chr12:21084808-21084809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73075214	chr12:21084817-21084818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150871146	chr12:21084880-21084881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556006612	chr12:21084894-21084895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575695817	chr12:21084921-21084922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
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
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
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21364760	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	21346763	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21081000-21103400	Weak transcription	Liver	Liver
2	chr12:21084800-21085200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:21098200-21098600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:21103400-21103600	ZNF genes & repeats	Liver	Liver
5	chr12:21107800-21108600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:21114400-21115200	ZNF genes & repeats	Liver	Liver
7	chr12:21115200-21115800	Weak transcription	Liver	Liver
8	chr12:21115800-21116600	Enhancers	Liver	Liver
9	chr12:21116600-21116800	Flanking Active TSS	Liver	Liver
10	chr12:21116800-21117000	Enhancers	Liver	Liver
11	chr12:21117000-21117200	Flanking Active TSS	Liver	Liver
12	chr12:21117200-21118600	Enhancers	Liver	Liver
13	chr12:21118600-21119000	Weak transcription	Liver	Liver
14	chr12:21119000-21123000	Enhancers	Liver	Liver
15	chr12:21125200-21125600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:21138000-21139200	Enhancers	Dnd41	blood
17	chr12:21138200-21145200	Weak transcription	Liver	Liver
18	chr12:21142800-21143000	ZNF genes & repeats	Gastric	stomach
19	chr12:21145200-21146400	ZNF genes & repeats	Liver	Liver
20	chr12:21146400-21154400	Weak transcription	Liver	Liver

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