Variant report

Variant	nsv947485
Chromosome Location	chr1:47223941-47236107
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:4)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:47224713..47226876-chr1:47228199..47229906,2	MCF-7	breast:
2	chr1:47222300..47224102-chr1:47226082..47229045,3	K562	blood:
3	chr1:47224713..47226876-chr1:47228199..47229906,2	MCF-7	breast:
4	chr1:47233649..47235764-chr1:47237515..47240472,2	MCF-7	breast:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATPAF1-AS1-2	chr1:47233197-47233300	XLOC_000173
2	lnc-ATPAF1-AS1-2	chr1:47223947-47224047	XLOC_000173
3	lnc-ATPAF1-AS1-2	chr1:47231357-47231515	XLOC_000173
4	lnc-ATPAF1-AS1-2	chr1:47230650-47230773	XLOC_000173
5	lnc-ATPAF1-AS1-2	chr1:47233197-47233316	NONHSAT003038
6	lnc-ATPAF1-AS1-2	chr1:47231357-47231515	NONHSAT003037
7	lnc-ATPAF1-AS1-2	chr1:47230650-47230773	NONHSAT003038
8	lnc-ATPAF1-AS1-2	chr1:47233197-47233316	NONHSAT003037
9	lnc-ATPAF1-AS1-2	chr1:47230650-47230773	NONHSAT003037
10	lnc-ATPAF1-AS1-2	chr1:47231357-47231515	NONHSAT003038

No data

Variant related genes	Relation type
ENSG00000142973	chromatin interactions
EPB41L1	miRNA target sites
EP300	miRNA target sites

Extended variants
information (count: 437 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:437 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554995343	chr1:47223953-47223954	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
2	rs573308436	chr1:47223975-47223976	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
3	rs540549506	chr1:47223983-47223984	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
4	rs539138970	chr1:47223985-47223986	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
5	rs181334918	chr1:47223989-47223990	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
6	rs544744162	chr1:47224016-47224017	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
7	rs139086958	chr1:47224020-47224021	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
8	rs530510761	chr1:47224030-47224031	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
9	rs185941760	chr1:47224059-47224060	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs560523416	chr1:47224060-47224061	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs558735597	chr1:47224069-47224070	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs149893430	chr1:47224075-47224076	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs546297235	chr1:47224082-47224083	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs190641928	chr1:47224223-47224224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144959812	chr1:47224224-47224225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182082883	chr1:47224242-47224243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569114916	chr1:47224250-47224251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs694956	chr1:47224262-47224263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563925426	chr1:47224278-47224279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116371802	chr1:47224305-47224306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534155920	chr1:47224330-47224331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142137296	chr1:47224332-47224333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187631446	chr1:47224392-47224393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190707841	chr1:47224449-47224450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112899679	chr1:47224521-47224522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112467017	chr1:47224574-47224575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115765139	chr1:47224583-47224584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549187250	chr1:47224593-47224594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574717533	chr1:47224597-47224598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35847612	chr1:47224650-47224651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186728118	chr1:47224735-47224736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs11581554	chr1:47225008-47225009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574764240	chr1:47225011-47225012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2165316	chr1:47225028-47225029	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs560314384	chr1:47225035-47225036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540182929	chr1:47225052-47225053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189968794	chr1:47225079-47225080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs4660959	chr1:47225094-47225095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532427835	chr1:47225108-47225109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182552974	chr1:47225122-47225123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2165315	chr1:47225194-47225195	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs368449198	chr1:47225197-47225198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545883925	chr1:47225200-47225201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573411474	chr1:47225203-47225204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368822554	chr1:47225219-47225220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs7516814	chr1:47225335-47225336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs72681924	chr1:47225421-47225422	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs187360363	chr1:47225426-47225427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376251644	chr1:47225430-47225431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369749990	chr1:47225433-47225434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Muscle-eye-brain disease	21572526	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Neuroblastoma	21899760	CNVD
Uveal melanoma	20484589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Glioblastoma	20031968	CNVD
Leukemia	18688285	CNVD
Rett syndrome	21593744	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47215200-47226000	Weak transcription	Lung	lung
2	chr1:47219400-47224600	Enhancers	Placenta	Placenta
3	chr1:47219400-47225600	Enhancers	Fetal Intestine Small	intestine
4	chr1:47219400-47231600	Enhancers	Fetal Intestine Large	intestine
5	chr1:47219800-47224600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:47221000-47225000	Weak transcription	HUVEC	blood vessel
7	chr1:47221400-47224400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr1:47222000-47224400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr1:47222000-47225000	Weak transcription	Small Intestine	intestine
10	chr1:47222200-47224000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:47222200-47224000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr1:47222600-47224000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr1:47222600-47224000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr1:47222800-47224000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:47222800-47224000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr1:47222800-47224400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr1:47223000-47224000	Enhancers	H9 Cell Line	embryonic stem cell
18	chr1:47223000-47224000	Enhancers	Pancreas	Pancrea
19	chr1:47223000-47224000	Flanking Active TSS	HMEC	breast
20	chr1:47223000-47224000	Enhancers	NH-A	brain
21	chr1:47223000-47224200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr1:47223000-47224400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:47223000-47224400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:47223000-47224400	Enhancers	Fetal Kidney	kidney
25	chr1:47223000-47224400	Enhancers	Placenta Amnion	Placenta Amnion
26	chr1:47223200-47224000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:47223200-47224400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr1:47223200-47224400	Enhancers	Gastric	stomach
29	chr1:47223400-47224000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:47223400-47224200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:47223400-47224400	Enhancers	Stomach Mucosa	stomach
32	chr1:47223600-47224000	Enhancers	Esophagus	oesophagus
33	chr1:47223600-47224200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:47223600-47224400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:47223600-47224400	Enhancers	Fetal Lung	lung
36	chr1:47223600-47224400	Enhancers	NHEK	skin
37	chr1:47223800-47224400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:47223800-47224400	Enhancers	Duodenum Mucosa	Duodenum
39	chr1:47224000-47224800	Enhancers	HMEC	breast
40	chr1:47224000-47226200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:47224400-47225000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr1:47224400-47225000	Weak transcription	Stomach Mucosa	stomach
43	chr1:47224400-47227000	Weak transcription	Fetal Lung	lung
44	chr1:47224600-47225000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:47224600-47225000	Weak transcription	Placenta	Placenta
46	chr1:47225000-47225200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:47225000-47225200	Enhancers	Placenta	Placenta
48	chr1:47225000-47225200	Enhancers	Small Intestine	intestine
49	chr1:47225000-47225200	Enhancers	Stomach Mucosa	stomach
50	chr1:47225000-47225400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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