Variant report

Variant	nsv946507
Chromosome Location	chr1:173109131-173118311
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	CEBPB	chr1:173115198-173115453	A549	lung:	n/a	chr1:173115366-173115377
2	CEBPB	chr1:173115220-173115420	Hela-S3	cervix:	n/a	chr1:173115366-173115377
3	CEBPB	chr1:173115248-173115535	IMR90	lung:	n/a	chr1:173115366-173115377
4	CEBPB	chr1:173115212-173115446	HepG2	liver:	n/a	chr1:173115366-173115377
5	CEBPB	chr1:173108942-173109291	IMR90	lung:	n/a	chr1:173109111-173109120 chr1:173109109-173109120 chr1:173109111-173109122
6	CEBPB	chr1:173115282-173115405	K562	blood:	n/a	chr1:173115366-173115377
7	CEBPB	chr1:173108970-173109259	A549	lung:	n/a	chr1:173109111-173109120 chr1:173109109-173109120 chr1:173109111-173109122
8	CEBPB	chr1:173109014-173109181	Hela-S3	cervix:	n/a	chr1:173109111-173109120 chr1:173109109-173109120 chr1:173109111-173109122
9	CEBPB	chr1:173108974-173109276	HepG2	liver:	n/a	chr1:173109111-173109120 chr1:173109109-173109120 chr1:173109111-173109122
10	CTCF	chr1:173117780-173117930	GM12873	blood:	n/a	n/a
11	CTCF	chr1:173117640-173117790	GM12875	blood:	n/a	n/a
12	CTCF	chr1:173117760-173117910	HCFaa	heart:	n/a	n/a
13	CTCF	chr1:173117680-173117830	GM12868	blood:	n/a	n/a
14	CTCF	chr1:173117740-173117890	GM12872	blood:	n/a	n/a
15	CTCF	chr1:173117660-173117810	GM12864	blood:	n/a	n/a
16	CTCF	chr1:173117580-173117730	Hela-S3	cervix:	n/a	n/a
17	JUND	chr1:173113458-173113763	HepG2	liver:	n/a	chr1:173113585-173113596
18	POLR2A	chr1:173109926-173110104	GM12878	blood:	n/a	n/a
19	POLR2A	chr1:173116665-173116701	Gliobla	brain:	n/a	n/a
20	POLR2A	chr1:173111373-173111402	Gliobla	brain:	n/a	n/a
21	POLR2A	chr1:173116720-173116855	Gliobla	brain:	n/a	n/a
22	SETDB1	chr1:173114896-173115439	U2OS	brain:	n/a	n/a
23	STAT3	chr1:173117121-173117136	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:173113570..173114547-chrX:68131560..68132142,2	MCF-7	breast:
2	chr1:173109665..173112302-chr1:173115372..173117464,3	K562	blood:
3	chr1:173118211..173120558-chr1:173991632..173994112,2	K562	blood:

Variant related genes	Relation type
GOT2P2	TF binding region
ENSG00000224977	chromatin interactions
ENSG00000230849	chromatin interactions

Extended variants
information (count: 337 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:337 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79435673	chr1:173109169-173109170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533468274	chr1:173109212-173109213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1234309	chr1:173109224-173109225	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs12354046	chr1:173109239-173109240	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs187460876	chr1:173109248-173109249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548891071	chr1:173109254-173109255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192718815	chr1:173109273-173109274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185423459	chr1:173109284-173109285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549842666	chr1:173109370-173109371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571215408	chr1:173109381-173109382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142206554	chr1:173109393-173109394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371765998	chr1:173109394-173109395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543160081	chr1:173109462-173109463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547390445	chr1:173109464-173109465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189265620	chr1:173109467-173109468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs151200433	chr1:173109473-173109474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556137031	chr1:173109480-173109481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1234308	chr1:173109507-173109508	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs538009706	chr1:173109533-173109534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556725530	chr1:173109564-173109565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs578008191	chr1:173109576-173109577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545119852	chr1:173109582-173109583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560092770	chr1:173109586-173109587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572138766	chr1:173109603-173109604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140257726	chr1:173109639-173109640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544519263	chr1:173109669-173109670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181977256	chr1:173109740-173109741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549678014	chr1:173109775-173109776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10912543	chr1:173109778-173109779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184326224	chr1:173109814-173109815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547549344	chr1:173109847-173109848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554932605	chr1:173109925-173109926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574470631	chr1:173109955-173109956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189105377	chr1:173109956-173109957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536301003	chr1:173109968-173109969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10912544	chr1:173110032-173110033	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs145137698	chr1:173110063-173110064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147588110	chr1:173110073-173110074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs34698489	chr1:173110090-173110091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572035219	chr1:173110181-173110182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142003320	chr1:173110246-173110247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs578145372	chr1:173110313-173110314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560288709	chr1:173110317-173110318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186579203	chr1:173110347-173110348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553886352	chr1:173110360-173110361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375879345	chr1:173110410-173110411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs150727409	chr1:173110415-173110416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572102448	chr1:173110469-173110470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542565263	chr1:173110472-173110473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561352658	chr1:173110495-173110496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	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
Glioblastoma multiforme	21080181	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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	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
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173104400-173119200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:173107200-173110200	Weak transcription	HSMMtube	muscle
3	chr1:173109000-173110800	Enhancers	Dnd41	blood
4	chr1:173109600-173110000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:173110200-173110400	Enhancers	HSMMtube	muscle
6	chr1:173113800-173116600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:173114000-173114400	Weak transcription	HSMMtube	muscle
8	chr1:173115200-173116000	Weak transcription	HSMMtube	muscle
9	chr1:173116000-173118400	Strong transcription	HSMMtube	muscle
10	chr1:173116200-173120400	Weak transcription	Right Ventricle	heart
11	chr1:173116400-173118000	ZNF genes & repeats	HSMM	muscle
12	chr1:173117000-173117600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:173117400-173117800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:173117400-173118000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:173117600-173118000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:173117600-173119400	Enhancers	Placenta Amnion	Placenta Amnion
17	chr1:173117600-173119800	Enhancers	Placenta	Placenta
18	chr1:173117600-173122000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:173117800-173120000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:173118000-173118600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:173118000-173119200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:173118000-173119200	Weak transcription	HSMM	muscle
23	chr1:173118200-173122800	Weak transcription	Primary hematopoietic stem cells	blood

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