Variant report

Variant	nsv973042
Chromosome Location	chr12:31201935-31204331
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM60A-1	chr12:31203850-31204329	ENSG00000245614

Variant related genes	Relation type
ANKRD29	miRNA target sites

Extended variants
information (count: 83 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376126798	chr12:31202012-31202013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540761667	chr12:31202023-31202024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148645898	chr12:31202103-31202104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11051220	chr12:31202146-31202147	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
5	rs113237786	chr12:31202155-31202156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562507699	chr12:31202165-31202166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533279408	chr12:31202181-31202182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140158906	chr12:31202183-31202184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190754483	chr12:31202217-31202218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143902285	chr12:31202218-31202219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77745296	chr12:31202255-31202256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527481991	chr12:31202263-31202264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199513237	chr12:31202294-31202295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79709411	chr12:31202310-31202311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79336891	chr12:31202337-31202338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183651222	chr12:31202341-31202342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553641820	chr12:31202352-31202353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537908636	chr12:31202386-31202387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572030158	chr12:31202396-31202397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536374024	chr12:31202431-31202432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188132806	chr12:31202438-31202439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199751926	chr12:31202485-31202486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368647622	chr12:31202532-31202533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12303225	chr12:31202563-31202564	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs191252971	chr12:31202589-31202590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540163280	chr12:31202649-31202650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12303277	chr12:31202651-31202652	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs71453801	chr12:31202665-31202666	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs114215502	chr12:31202668-31202669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71453802	chr12:31202680-31202681	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs573811933	chr12:31202681-31202682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71455603	chr12:31202708-31202709	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs576775802	chr12:31202719-31202720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577940009	chr12:31202771-31202772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368573355	chr12:31202780-31202781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138447190	chr12:31202788-31202789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111474291	chr12:31202838-31202839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113203034	chr12:31202903-31202904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527533621	chr12:31202907-31202908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371607393	chr12:31202919-31202920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549217424	chr12:31202960-31202961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559070279	chr12:31202982-31202983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376241007	chr12:31203011-31203012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201591294	chr12:31203078-31203079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4031374	chr12:31203169-31203170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531465816	chr12:31203215-31203216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs3950578	chr12:31203269-31203270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs3950579	chr12:31203270-31203271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182573999	chr12:31203300-31203301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186560768	chr12:31203301-31203302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
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
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	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
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Ovarian cancer	21720365	CNVD
Sertoli-cell only syndrome	20877625	CNVD
Breast cancer	22522925	CNVD
Autism	21865298	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Williams Syndrome	20824207	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31189800-31225400	Weak transcription	Fetal Stomach	stomach
2	chr12:31195000-31206200	Weak transcription	Left Ventricle	heart
3	chr12:31202200-31219400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:31202800-31205000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:31203000-31203400	Enhancers	Placenta Amnion	Placenta Amnion
6	chr12:31203200-31207600	Enhancers	Fetal Thymus	thymus
7	chr12:31203400-31204000	Enhancers	NH-A	brain
8	chr12:31203800-31204000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:31203800-31205600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:31204000-31205400	Weak transcription	NH-A	brain
11	chr12:31204200-31205000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:31204200-31206800	Enhancers	Thymus	Thymus

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