Variant report

Variant	nsv946437
Chromosome Location	chr1:158164685-158166531
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:158165746-158165749	MCF-7	breast:	n/a	n/a
2	CTCF	chr1:158165761-158165779	MCF-7	breast:	n/a	n/a
3	MAFF	chr1:158164513-158164693	HepG2	liver:	n/a	chr1:158164578-158164596
4	MAFK	chr1:158164496-158164721	IMR90	lung:	n/a	chr1:158164644-158164655 chr1:158164644-158164655 chr1:158164579-158164594 chr1:158164643-158164654 chr1:158164643-158164659
5	MAFK	chr1:158164452-158164724	HepG2	liver:	n/a	chr1:158164644-158164655 chr1:158164644-158164655 chr1:158164579-158164594 chr1:158164643-158164654 chr1:158164643-158164659
6	MYC	chr1:158165626-158165739	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr1:158166438-158166555	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr1:158165575-158165717	MCF-7	breast:	n/a	n/a
9	POLR2A	chr1:158165729-158165736	MCF-7	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CD1B-5	chr1:158165423-158165921	NONHSAT006974

Variant related genes	Relation type
ENSG00000229914	TF binding region

Extended variants
information (count: 85 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143653025	chr1:158164685-158164686	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1627504	chr1:158164697-158164698	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs572896115	chr1:158164755-158164756	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374610975	chr1:158164787-158164788	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1628340	chr1:158164788-158164789	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs577045516	chr1:158164799-158164800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1628370	chr1:158164800-158164801	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs562343128	chr1:158164801-158164802	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188730181	chr1:158164831-158164832	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200952802	chr1:158164841-158164842	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs193285842	chr1:158164872-158164873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs61820260	chr1:158164919-158164920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561179716	chr1:158164934-158164935	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528607995	chr1:158164941-158164942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546642971	chr1:158164952-158164953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565307721	chr1:158164962-158164963	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548977594	chr1:158164973-158164974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1630031	chr1:158164992-158164993	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs1630058	chr1:158165004-158165005	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs569579509	chr1:158165039-158165040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536793444	chr1:158165096-158165097	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185647514	chr1:158165139-158165140	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566407348	chr1:158165152-158165153	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533919396	chr1:158165163-158165164	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557809413	chr1:158165178-158165179	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562742558	chr1:158165179-158165180	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558248937	chr1:158165189-158165190	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs36071349	chr1:158165190-158165191	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs202139509	chr1:158165191-158165192	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200445314	chr1:158165192-158165193	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576821937	chr1:158165199-158165200	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528057268	chr1:158165336-158165337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1690775	chr1:158165341-158165342	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs66697811	chr1:158165357-158165358	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199663672	chr1:158165366-158165367	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75037519	chr1:158165367-158165368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201729004	chr1:158165415-158165416	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553949210	chr1:158165425-158165426	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs547797184	chr1:158165486-158165487	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs540767610	chr1:158165531-158165532	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs565124874	chr1:158165569-158165570	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs1633127	chr1:158165578-158165579	Weak transcription Enhancers Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs544620130	chr1:158165591-158165592	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs1633128	chr1:158165601-158165602	Weak transcription Enhancers Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs372712221	chr1:158165624-158165625	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs188159771	chr1:158165639-158165640	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs382436	chr1:158165661-158165662	Weak transcription Enhancers Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs559782123	chr1:158165669-158165670	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs369931485	chr1:158165683-158165684	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs567080543	chr1:158165688-158165689	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158159800-158165400	Weak transcription	Thymus	Thymus
2	chr1:158161600-158165800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:158161600-158167000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:158161600-158167200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:158163600-158165200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr1:158163800-158166600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:158163800-158166800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:158164000-158166600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:158164000-158172800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:158164400-158167200	Strong transcription	Dnd41	blood
11	chr1:158165400-158165600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr1:158165400-158166000	Enhancers	Pancreas	Pancrea
13	chr1:158165400-158166000	Strong transcription	Thymus	Thymus
14	chr1:158165600-158167200	Weak transcription	Fetal Thymus	thymus
15	chr1:158165800-158166000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:158166000-158168600	Weak transcription	Thymus	Thymus
17	chr1:158166000-158169800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:158166400-158166600	Enhancers	Duodenum Mucosa	Duodenum

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