Variant report

Variant	nsv560387
Chromosome Location	chr12:118219415-118239673
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:8)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:118206913..118208746-chr12:118217974..118220542,2	MCF-7	breast:
2	chr12:118154056..118156938-chr12:118233269..118235740,2	MCF-7	breast:
3	chr12:118233366..118234895-chr12:118237416..118240307,2	MCF-7	breast:
4	chr12:118233366..118234895-chr12:118237416..118240307,2	MCF-7	breast:
5	chr12:118224884..118227594-chr12:118235023..118236649,2	MCF-7	breast:
6	chr12:118231512..118233159-chr6:27099509..27102056,2	MCF-7	breast:
7	chr12:118224884..118227594-chr12:118235023..118236649,2	MCF-7	breast:
8	chr12:118218209..118219851-chr12:118255401..118257434,2	MCF-7	breast:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RFC5-3	chr12:118231849-118231988	NONHSAT031010
2	lnc-WSB2-5	chr12:118225523-118225568	l_737_NR_024246
3	lnc-WSB2-5	chr12:118223797-118224219	l_737_NR_024246
4	lnc-RFC5-3	chr12:118230609-118230896	NONHSAT031011
5	lnc-RFC5-3	chr12:118230609-118231640	NONHSAT031010
6	lnc-RFC5-3	chr12:118231011-118231427	NONHSAT031011
7	lnc-RFC5-3	chr12:118232138-118232581	NONHSAT031011
8	lnc-RFC5-3	chr12:118232054-118232581	NONHSAT031010

No data

Variant related genes	Relation type
ENSG00000196787	chromatin interactions
ENSG00000124635	chromatin interactions

Extended variants
information (count: 1004 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1004 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12824323	chr12:118219415-118219416	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs138360530	chr12:118219430-118219431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571554870	chr12:118219431-118219432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529215604	chr12:118219444-118219445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527630083	chr12:118219515-118219516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115767447	chr12:118219552-118219553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78276948	chr12:118219597-118219598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181422102	chr12:118219607-118219608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555851978	chr12:118219629-118219630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148821782	chr12:118219662-118219663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538059888	chr12:118219663-118219664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557970602	chr12:118219676-118219677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75132451	chr12:118219709-118219710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540554515	chr12:118219729-118219730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs57882948	chr12:118219730-118219731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs16951457	chr12:118219765-118219766	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs75869914	chr12:118219813-118219814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562608454	chr12:118219815-118219816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531472195	chr12:118219870-118219871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545218452	chr12:118219913-118219914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143470800	chr12:118219936-118219937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565103455	chr12:118219969-118219970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139326864	chr12:118219980-118219981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547729431	chr12:118220174-118220175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566724325	chr12:118220193-118220194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114157729	chr12:118220214-118220215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549167583	chr12:118220217-118220218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569325217	chr12:118220295-118220296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568218257	chr12:118220316-118220317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537996624	chr12:118220321-118220322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186003484	chr12:118220325-118220326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111746507	chr12:118220334-118220335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73215930	chr12:118220360-118220361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554472531	chr12:118220368-118220369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10431377	chr12:118220395-118220396	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs536256979	chr12:118220407-118220408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555930956	chr12:118220444-118220445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377100365	chr12:118220516-118220517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10431398	chr12:118220522-118220523	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs189065048	chr12:118220638-118220639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112606156	chr12:118220671-118220672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572290912	chr12:118220720-118220721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138478204	chr12:118220733-118220734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141870898	chr12:118220810-118220811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539518643	chr12:118220842-118220843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs180973218	chr12:118220854-118220855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539937636	chr12:118220903-118220904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186305033	chr12:118220946-118220947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549356069	chr12:118221003-118221004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116594256	chr12:118221096-118221097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	20406844	CNVD
Medulloblastoma	16783165	CNVD
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118210000-118230800	Weak transcription	Pancreas	Pancrea
2	chr12:118224400-118227600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:118225000-118226200	Enhancers	Placenta Amnion	Placenta Amnion
4	chr12:118225000-118226400	Enhancers	Dnd41	blood
5	chr12:118226000-118226200	Bivalent Enhancer	A549	lung
6	chr12:118226000-118228400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr12:118226000-118229800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr12:118226200-118229600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr12:118226800-118227400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr12:118226800-118228400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr12:118226800-118228800	Enhancers	H9 Cell Line	embryonic stem cell
12	chr12:118226800-118228800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr12:118226800-118228800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr12:118226800-118228800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:118226800-118229000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr12:118227000-118227200	Bivalent Enhancer	A549	lung
17	chr12:118227000-118228200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:118227000-118228400	Enhancers	H1 Cell Line	embryonic stem cell
19	chr12:118227000-118229600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:118227200-118227800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:118227400-118227600	Enhancers	Spleen	Spleen
22	chr12:118227400-118228400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr12:118227600-118228000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:118227600-118230800	Weak transcription	Spleen	Spleen
25	chr12:118227800-118228000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:118228000-118228400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:118228200-118228600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr12:118228400-118228600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:118228600-118228800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:118228600-118228800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr12:118228600-118228800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:118228600-118230600	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr12:118228800-118229200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:118228800-118229400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr12:118228800-118230800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:118229400-118229600	Enhancers	H9 Cell Line	embryonic stem cell
37	chr12:118229400-118230600	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr12:118229600-118230800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr12:118229600-118231200	Enhancers	Placenta Amnion	Placenta Amnion
40	chr12:118230600-118230800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr12:118230600-118231000	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr12:118230600-118231000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr12:118230600-118231200	Enhancers	Right Ventricle	heart
44	chr12:118230600-118231200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr12:118230600-118231800	ZNF genes & repeats	Fetal Lung	lung
46	chr12:118230600-118232000	ZNF genes & repeats	Fetal Brain Male	brain
47	chr12:118230600-118232600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:118230600-118232600	ZNF genes & repeats	Fetal Kidney	kidney
49	chr12:118230800-118231000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr12:118230800-118231000	Flanking Active TSS	Brain Anterior Caudate	brain

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