Variant report

Variant	esv3345033
Chromosome Location	chr12:86458294-86514745
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	chr12:86511451..86513760-chr12:86516670..86519004,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MGAT4C-1	chr12:86461869-86462285	NONHSAT029763

Extended variants
information (count: 770 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:770 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560201069	chr12:86462035-86462036	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs111495091	chr12:86462037-86462038	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs527824250	chr12:86462055-86462056	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs369087181	chr12:86462133-86462134	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs149680943	chr12:86462151-86462152	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs531953241	chr12:86462160-86462161	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs10779231	chr12:86462237-86462238	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs181385685	chr12:86462238-86462239	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs549831662	chr12:86462252-86462253	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs571421953	chr12:86462262-86462263	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs376623546	chr12:86462275-86462276	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs369885224	chr12:86470629-86470630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs71452131	chr12:86470656-86470657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574121165	chr12:86470683-86470684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530549589	chr12:86470750-86470751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189276076	chr12:86470754-86470755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142438645	chr12:86470766-86470767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532666867	chr12:86470784-86470785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548075590	chr12:86470793-86470794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12299416	chr12:86470936-86470937	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs536845484	chr12:86471004-86471005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116764636	chr12:86471049-86471050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144693805	chr12:86471107-86471108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79914373	chr12:86471110-86471111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11117182	chr12:86471115-86471116	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs539882845	chr12:86471134-86471135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558962246	chr12:86471139-86471140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78627753	chr12:86471184-86471185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34334600	chr12:86471211-86471212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533119678	chr12:86471212-86471213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61931141	chr12:86471213-86471214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534573684	chr12:86471236-86471237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545302025	chr12:86471263-86471264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73380058	chr12:86471270-86471271	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs117430536	chr12:86471282-86471283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541604603	chr12:86471323-86471324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147934972	chr12:86471362-86471363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6539947	chr12:86471424-86471425	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs141736275	chr12:86471451-86471452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563883221	chr12:86471476-86471477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528100721	chr12:86471535-86471536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539891006	chr12:86471536-86471537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559993328	chr12:86471537-86471538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143835694	chr12:86471576-86471577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs180760775	chr12:86471581-86471582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369346424	chr12:86471584-86471585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150797295	chr12:86471639-86471640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371073389	chr12:86471656-86471657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530976967	chr12:86471710-86471711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375740211	chr12:86471747-86471748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Malignant peripheral nerve sheath tumor	18522746	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86470600-86473800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr12:86473800-86474000	Enhancers	Brain Germinal Matrix	brain
3	chr12:86473800-86474200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr12:86473800-86476400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:86473800-86476400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:86473800-86477000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:86474200-86474400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:86474200-86474600	Enhancers	Fetal Brain Male	brain
9	chr12:86474200-86474600	Enhancers	Fetal Heart	heart
10	chr12:86474200-86475400	Weak transcription	Brain Germinal Matrix	brain
11	chr12:86474400-86476400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr12:86474600-86475000	Weak transcription	Fetal Heart	heart
13	chr12:86474600-86475600	Weak transcription	Fetal Brain Male	brain
14	chr12:86474600-86475800	Enhancers	Brain Anterior Caudate	brain
15	chr12:86474800-86476000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:86474800-86476000	Enhancers	Brain Hippocampus Middle	brain
17	chr12:86474800-86476000	Enhancers	Brain Substantia Nigra	brain
18	chr12:86475000-86476200	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr12:86475000-86476200	Enhancers	Fetal Heart	heart
20	chr12:86475000-86476400	Enhancers	Brain Cingulate Gyrus	brain
21	chr12:86475400-86476200	Enhancers	Fetal Brain Female	brain
22	chr12:86475400-86476400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:86475400-86476600	Enhancers	Brain Germinal Matrix	brain
24	chr12:86475600-86476200	Enhancers	Fetal Brain Male	brain
25	chr12:86476200-86477200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr12:86476600-86477400	Weak transcription	Brain Germinal Matrix	brain
27	chr12:86477200-86477600	Enhancers	Fetal Lung	lung
28	chr12:86477400-86477600	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr12:86477400-86477800	Enhancers	Brain Germinal Matrix	brain
30	chr12:86484400-86486000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:86485000-86486000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:86485200-86485800	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr12:86485200-86486000	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr12:86486000-86487800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr12:86487800-86488000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr12:86488000-86488400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr12:86488400-86488600	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr12:86488400-86489400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr12:86488600-86489400	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr12:86488600-86489800	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr12:86489400-86490400	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr12:86489400-86490400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr12:86489800-86491400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr12:86490400-86491000	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr12:86490400-86491400	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr12:86490400-86491600	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr12:86490600-86491200	Enhancers	Fetal Lung	lung
48	chr12:86491400-86491600	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr12:86493200-86493600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:86493600-86495600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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