Variant report

Variant	nsv520475
Chromosome Location	chr3:80166311-80269377
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	BRCA1	chr3:80212234-80212269	HepG2	liver:	n/a	n/a
2	CEBPB	chr3:80263734-80263847	A549	lung:	n/a	chr3:80263788-80263799
3	CEBPB	chr3:80250182-80250402	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr3:80207501-80207872	H1-hESC	embryonic stem cell:	n/a	chr3:80207676-80207689 chr3:80207676-80207687 chr3:80207678-80207687 chr3:80207678-80207687 chr3:80207678-80207687 chr3:80207673-80207690
5	CEBPB	chr3:80204318-80204553	A549	lung:	n/a	chr3:80204368-80204379
6	CEBPB	chr3:80217106-80217406	HepG2	liver:	n/a	n/a
7	CEBPB	chr3:80243693-80243916	K562	blood:	n/a	chr3:80243842-80243853
8	CEBPB	chr3:80207474-80207875	ECC-1	luminal epithelium:	n/a	chr3:80207676-80207689 chr3:80207676-80207687 chr3:80207678-80207687 chr3:80207678-80207687 chr3:80207678-80207687 chr3:80207673-80207690
9	CEBPB	chr3:80243672-80243983	IMR90	lung:	n/a	chr3:80243842-80243853
10	CEBPB	chr3:80207533-80207868	K562	blood:	n/a	chr3:80207676-80207689 chr3:80207676-80207687 chr3:80207678-80207687 chr3:80207678-80207687 chr3:80207678-80207687 chr3:80207673-80207690
11	CEBPB	chr3:80250148-80250467	A549	lung:	n/a	n/a
12	CEBPB	chr3:80243690-80243967	A549	lung:	n/a	chr3:80243842-80243853
13	CEBPB	chr3:80203052-80203353	HepG2	liver:	n/a	n/a
14	CEBPB	chr3:80207544-80207850	Hela-S3	cervix:	n/a	chr3:80207676-80207689 chr3:80207676-80207687 chr3:80207678-80207687 chr3:80207678-80207687 chr3:80207678-80207687 chr3:80207673-80207690
15	CEBPB	chr3:80202985-80203384	MCF-7	breast:	n/a	n/a
16	CEBPB	chr3:80204244-80204558	IMR90	lung:	n/a	chr3:80204368-80204379
17	CEBPB	chr3:80250159-80250442	IMR90	lung:	n/a	n/a
18	CEBPB	chr3:80262387-80262488	HepG2	liver:	n/a	chr3:80262396-80262408
19	CEBPB	chr3:80207504-80207892	ECC-1	luminal epithelium:	n/a	chr3:80207676-80207689 chr3:80207676-80207687 chr3:80207678-80207687 chr3:80207678-80207687 chr3:80207678-80207687 chr3:80207673-80207690
20	CEBPB	chr3:80207493-80207862	IMR90	lung:	n/a	chr3:80207676-80207689 chr3:80207676-80207687 chr3:80207678-80207687 chr3:80207678-80207687 chr3:80207678-80207687 chr3:80207673-80207690
21	CEBPB	chr3:80207507-80207862	A549	lung:	n/a	chr3:80207676-80207689 chr3:80207676-80207687 chr3:80207678-80207687 chr3:80207678-80207687 chr3:80207678-80207687 chr3:80207673-80207690
22	CEBPB	chr3:80207497-80207839	HepG2	liver:	n/a	chr3:80207676-80207689 chr3:80207676-80207687 chr3:80207678-80207687 chr3:80207678-80207687 chr3:80207678-80207687 chr3:80207673-80207690
23	CEBPB	chr3:80204224-80204554	HepG2	liver:	n/a	chr3:80204368-80204379
24	CEBPB	chr3:80239144-80239692	ECC-1	luminal epithelium:	n/a	n/a
25	CEBPB	chr3:80243766-80243971	Hela-S3	cervix:	n/a	chr3:80243842-80243853
26	CEBPB	chr3:80207455-80207956	MCF-7	breast:	n/a	chr3:80207676-80207689 chr3:80207676-80207687 chr3:80207678-80207687 chr3:80207678-80207687 chr3:80207678-80207687 chr3:80207673-80207690
27	CEBPB	chr3:80243685-80243986	HepG2	liver:	n/a	chr3:80243842-80243853
28	CEBPB	chr3:80239262-80239557	ECC-1	luminal epithelium:	n/a	n/a
29	CEBPB	chr3:80202947-80203395	MCF-7	breast:	n/a	n/a
30	CEBPB	chr3:80207528-80207819	MCF-7	breast:	n/a	chr3:80207676-80207689 chr3:80207676-80207687 chr3:80207678-80207687 chr3:80207678-80207687 chr3:80207678-80207687 chr3:80207673-80207690
31	CHD2	chr3:80264442-80264677	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr3:80203140-80203255	MCF-7	breast:	n/a	n/a
33	CTCF	chr3:80239360-80239510	HPAF	blood vessel:	n/a	n/a
34	CTCF	chr3:80184750-80184777	Lung_OC	lung:	n/a	n/a
35	CTCF	chr3:80203120-80203394	MCF-7	breast:	n/a	n/a
36	CTCF	chr3:80203160-80203310	HRE	kidney:	n/a	n/a
37	CTCF	chr3:80231980-80232130	BE2_C	brain:	n/a	n/a
38	CTCF	chr3:80259537-80259597	GM20000	blood:	n/a	n/a
39	CTCF	chr3:80201460-80201610	GM12878	blood:	n/a	n/a
40	CTCF	chr3:80203180-80203330	BE2_C	brain:	n/a	n/a
41	CTCF	chr3:80203111-80203289	MCF-7	breast:	n/a	n/a
42	CTCF	chr3:80203090-80203153	ProgFib	skin:	n/a	n/a
43	CTCF	chr3:80203106-80203350	MCF-7	breast:	n/a	n/a
44	CTCF	chr3:80203100-80203250	MCF-7	breast:	n/a	n/a
45	CTCF	chr3:80203120-80203333	MCF-7	breast:	n/a	n/a
46	CTCF	chr3:80203157-80203188	MCF-7	breast:	n/a	n/a
47	CTCF	chr3:80239240-80239390	HPAF	blood vessel:	n/a	n/a
48	CTCF	chr3:80241240-80241390	GM12873	blood:	n/a	n/a
49	CTCF	chr3:80203100-80203250	BE2_C	brain:	n/a	n/a
50	E2F4	chr3:80202601-80202892	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:80171980..80174475-chr3:80174990..80176609,2	MCF-7	breast:
2	chr3:80217733..80220457-chr3:80222720..80224346,2	MCF-7	breast:
3	chr3:80171980..80174475-chr3:80174990..80176609,2	MCF-7	breast:
4	chr3:80217733..80220457-chr3:80222720..80224346,2	MCF-7	breast:

Variant related genes	Relation type
HNRNPA3P8	TF binding region
OSBPL9P1	TF binding region

Extended variants
information (count: 1031 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1031 , 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	rs578235486	chr3:80166427-80166428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs35631267	chr3:80166431-80166432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34795451	chr3:80166478-80166479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540824580	chr3:80166571-80166572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560636807	chr3:80166606-80166607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529326395	chr3:80166611-80166612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549370585	chr3:80166612-80166613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562711625	chr3:80166675-80166676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531707907	chr3:80166707-80166708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191409928	chr3:80166767-80166768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558884357	chr3:80175200-80175201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572330087	chr3:80175215-80175216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540557213	chr3:80175245-80175246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181230196	chr3:80175251-80175252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573932476	chr3:80175284-80175285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143180348	chr3:80175294-80175295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542949240	chr3:80175322-80175323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77944867	chr3:80175335-80175336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138783253	chr3:80175337-80175338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560023399	chr3:80175350-80175351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs72631252	chr3:80175363-80175364	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs545586765	chr3:80175371-80175372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527276235	chr3:80175384-80175385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573252370	chr3:80175394-80175395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548109275	chr3:80175402-80175403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567574589	chr3:80175425-80175426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565503611	chr3:80175490-80175491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536458797	chr3:80175510-80175511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185358413	chr3:80175511-80175512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569838481	chr3:80175539-80175540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539848712	chr3:80175594-80175595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs17017592	chr3:80206200-80206201	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs149326991	chr3:80206234-80206235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs57542048	chr3:80206269-80206270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569426845	chr3:80206329-80206330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538015776	chr3:80206333-80206334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574010021	chr3:80206405-80206406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536508475	chr3:80206417-80206418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556719681	chr3:80206444-80206445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576556225	chr3:80206468-80206469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555148332	chr3:80206502-80206503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545524096	chr3:80206519-80206520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565217041	chr3:80206545-80206546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572498531	chr3:80206609-80206610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs144216900	chr3:80206619-80206620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561230089	chr3:80206631-80206632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567789044	chr3:80206638-80206639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529210227	chr3:80206639-80206640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs148723703	chr3:80206641-80206642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112187118	chr3:80206669-80206670	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:80166400-80166800	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr3:80175200-80175600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:80206200-80207000	Enhancers	Adipose Nuclei	Adipose
4	chr3:80206200-80207000	Enhancers	Fetal Brain Female	brain
5	chr3:80206400-80208200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr3:80207000-80207800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:80207800-80209000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:80209000-80210000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:80210800-80211200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr3:80221000-80221800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:80221400-80222400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr3:80225800-80226200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr3:80226400-80226800	Enhancers	Fetal Stomach	stomach
14	chr3:80238400-80238600	Enhancers	HUVEC	blood vessel
15	chr3:80238400-80239000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr3:80238600-80239400	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr3:80238600-80240000	Flanking Active TSS	HUVEC	blood vessel
18	chr3:80238800-80239000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:80238800-80239200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:80238800-80239600	Active TSS	Ovary	ovary
21	chr3:80238800-80239800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:80238800-80239800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr3:80239000-80239200	Enhancers	NH-A	brain
24	chr3:80239000-80239400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr3:80239000-80239400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:80239000-80239600	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr3:80239000-80239800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr3:80239000-80239800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr3:80239000-80239800	Enhancers	Hela-S3	cervix
30	chr3:80239200-80239600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr3:80239200-80239600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr3:80239200-80239600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr3:80239200-80239600	Enhancers	Fetal Lung	lung
34	chr3:80239200-80239800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr3:80239200-80239800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr3:80239200-80239800	Flanking Active TSS	NH-A	brain
37	chr3:80239200-80240000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr3:80239400-80239800	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr3:80239600-80239800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr3:80239800-80240000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr3:80239800-80241800	Weak transcription	NH-A	brain
42	chr3:80240000-80243200	Enhancers	HUVEC	blood vessel
43	chr3:80241800-80242600	Enhancers	NH-A	brain
44	chr3:80256800-80257400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr3:80256800-80257600	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr3:80256800-80257800	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr3:80257200-80257600	Enhancers	H1 Cell Line	embryonic stem cell
48	chr3:80257200-80257600	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr3:80257200-80257600	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr3:80257200-80257800	Enhancers	HUES64 Cell Line	embryonic stem cell

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