Variant report

Variant	nsv1006527
Chromosome Location	chr3:84388635-84550197
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	chr3:84493061-84493358	HepG2	liver:	n/a	chr3:84493298-84493309 chr3:84493187-84493198
2	CEBPB	chr3:84401416-84401835	A549	lung:	n/a	chr3:84401594-84401605
3	CEBPB	chr3:84420372-84420654	HepG2	liver:	n/a	chr3:84420503-84420514
4	CEBPB	chr3:84424300-84424593	A549	lung:	n/a	chr3:84424511-84424522 chr3:84424475-84424486
5	CEBPB	chr3:84424315-84424664	HepG2	liver:	n/a	chr3:84424511-84424522 chr3:84424475-84424486
6	CEBPB	chr3:84424332-84424656	K562	blood:	n/a	chr3:84424511-84424522 chr3:84424475-84424486
7	CEBPB	chr3:84441546-84441860	A549	lung:	n/a	chr3:84441699-84441710 chr3:84441701-84441710 chr3:84441701-84441710
8	CEBPB	chr3:84401449-84401838	HepG2	liver:	n/a	chr3:84401594-84401605
9	CEBPB	chr3:84518301-84518506	HepG2	liver:	n/a	chr3:84518398-84518409
10	CEBPB	chr3:84435855-84436087	IMR90	lung:	n/a	chr3:84435985-84435998
11	CEBPB	chr3:84401430-84401670	H1-hESC	embryonic stem cell:	n/a	chr3:84401594-84401605
12	CEBPB	chr3:84441548-84441877	HepG2	liver:	n/a	chr3:84441699-84441710 chr3:84441701-84441710 chr3:84441701-84441710
13	CEBPB	chr3:84401444-84401867	IMR90	lung:	n/a	chr3:84401594-84401605
14	CEBPB	chr3:84424343-84424540	H1-hESC	embryonic stem cell:	n/a	chr3:84424511-84424522 chr3:84424475-84424486
15	CEBPB	chr3:84441522-84441865	IMR90	lung:	n/a	chr3:84441699-84441710 chr3:84441701-84441710 chr3:84441701-84441710
16	CEBPB	chr3:84401433-84401795	K562	blood:	n/a	chr3:84401594-84401605
17	CEBPB	chr3:84424307-84424650	IMR90	lung:	n/a	chr3:84424511-84424522 chr3:84424475-84424486
18	CTCF	chr3:84463186-84463216	Lung_OC	lung:	n/a	n/a
19	CTCF	chr3:84505267-84505398	Lung_OC	lung:	n/a	n/a
20	CTCF	chr3:84516160-84516235	GM13976	blood:	n/a	n/a
21	CTCF	chr3:84488183-84488278	MCF-7	breast:	n/a	n/a
22	CTCF	chr3:84524158-84524269	Kidney_OC	kidney:	n/a	n/a
23	CTCF	chr3:84402556-84402578	GM20000	blood:	n/a	n/a
24	CTCF	chr3:84520190-84520261	GM20000	blood:	n/a	n/a
25	CTCF	chr3:84504674-84504694	GM10248	blood:	n/a	n/a
26	CTCF	chr3:84440215-84440260	GM20000	blood:	n/a	n/a
27	CTCF	chr3:84402580-84402595	GM20000	blood:	n/a	n/a
28	CTCF	chr3:84478920-84479070	Caco-2	colon:	n/a	n/a
29	CTCF	chr3:84395548-84395602	LNCaP	prostate:	n/a	n/a
30	CTCF	chr3:84411375-84411392	Kidney_OC	kidney:	n/a	n/a
31	CTCF	chr3:84493014-84493094	ProgFib	skin:	n/a	n/a
32	CTCF	chr3:84488229-84488278	MCF-7	breast:	n/a	n/a
33	CTCF	chr3:84427840-84427990	GM12867	blood:	n/a	n/a
34	CTCF	chr3:84526493-84526531	LNCaP	prostate:	n/a	n/a
35	CTCF	chr3:84542998-84543132	GM13976	blood:	n/a	n/a
36	CTCF	chr3:84488243-84488298	MCF-7	breast:	n/a	n/a
37	CTCF	chr3:84452395-84452472	GM10266	blood:	n/a	n/a
38	CTCF	chr3:84440123-84440219	Fibrobl	skin:	n/a	n/a
39	E2F4	chr3:84475096-84475296	MCF10A-Er-Src	breast:	n/a	n/a
40	E2F4	chr3:84549232-84549432	MCF10A-Er-Src	breast:	n/a	chr3:84549397-84549406
41	E2F4	chr3:84482248-84482329	MCF10A-Er-Src	breast:	n/a	n/a
42	E2F4	chr3:84486822-84487020	MCF10A-Er-Src	breast:	n/a	n/a
43	E2F4	chr3:84545335-84545513	MCF10A-Er-Src	breast:	n/a	n/a
44	E2F4	chr3:84433462-84433662	MCF10A-Er-Src	breast:	n/a	n/a
45	E2F4	chr3:84488711-84488988	MCF10A-Er-Src	breast:	n/a	n/a
46	EGR1	chr3:84488093-84488237	GM12878	blood:	n/a	n/a
47	EP300	chr3:84420815-84420893	GM12878	blood:	n/a	n/a
48	FAM48A	chr3:84526591-84526650	GM12878	blood:	n/a	n/a
49	FOS	chr3:84488703-84489047	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr3:84488700-84489045	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:84494646..84496609-chr3:84500255..84502714,2	K562	blood:
2	chr3:84417663..84419504-chr3:84428051..84430045,2	K562	blood:
3	chr3:84435082..84438227-chr3:84442146..84444726,3	MCF-7	breast:
4	chr3:84435082..84438227-chr3:84442146..84444726,3	MCF-7	breast:
5	chr3:84417663..84419504-chr3:84428051..84430045,2	K562	blood:
6	chr3:84494646..84496609-chr3:84500255..84502714,2	K562	blood:

Variant related genes	Relation type
ENSG00000266652	TF binding region

Extended variants
information (count: 799 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:799 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567402208	chr3:84391609-84391610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534696230	chr3:84391646-84391647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553250971	chr3:84391647-84391648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139790870	chr3:84391686-84391687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545295099	chr3:84391723-84391724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4856504	chr3:84391737-84391738	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs575615653	chr3:84391742-84391743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76260144	chr3:84391789-84391790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560933397	chr3:84391791-84391792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569687848	chr3:84396427-84396428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537134462	chr3:84396462-84396463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115626181	chr3:84396509-84396510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs367757324	chr3:84396528-84396529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182925220	chr3:84396529-84396530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149458032	chr3:84396553-84396554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552962280	chr3:84396573-84396574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75877846	chr3:84396579-84396580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568475075	chr3:84396581-84396582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374695807	chr3:84396600-84396601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186195297	chr3:84396611-84396612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190959542	chr3:84396618-84396619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563687751	chr3:84396634-84396635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183537623	chr3:84396664-84396665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369389022	chr3:84396670-84396671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561153761	chr3:84396671-84396672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567794958	chr3:84396787-84396788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536884639	chr3:84396788-84396789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186779714	chr3:84396798-84396799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372071567	chr3:84396879-84396880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532825004	chr3:84396880-84396881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553280944	chr3:84396889-84396890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144138349	chr3:84396910-84396911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569668432	chr3:84396951-84396952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs76037724	chr3:84396997-84396998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373695389	chr3:84397049-84397050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376645281	chr3:84397051-84397052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545327978	chr3:84397057-84397058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs397766720	chr3:84397061-84397062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201198115	chr3:84397062-84397063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs199733709	chr3:84397063-84397064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559000521	chr3:84397072-84397073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140650123	chr3:84397096-84397097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567488672	chr3:84397151-84397152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534839274	chr3:84397183-84397184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553114496	chr3:84397184-84397185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs79565051	chr3:84397188-84397189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374497837	chr3:84397214-84397215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs142795579	chr3:84397235-84397236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557080061	chr3:84397236-84397237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575195458	chr3:84397259-84397260	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
Acute myeloid leukemia	20729466	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
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
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
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Schizophrenia	23813976	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:84391600-84391800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:84396400-84397000	Enhancers	H1 Cell Line	embryonic stem cell
3	chr3:84396800-84397200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr3:84396800-84397200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr3:84397000-84397800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr3:84436400-84437400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr3:84436600-84437000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:84484000-84485000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr3:84484400-84485000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:84484400-84485200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:84484600-84485000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:84484600-84485000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr3:84484800-84485200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr3:84485000-84488800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:84485000-84493000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:84485200-84488600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:84488600-84493000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:84488800-84493600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr3:84489400-84489800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:84489800-84490800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:84490800-84491000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:84491600-84492600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr3:84492800-84494000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr3:84493000-84493200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:84493600-84494600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr3:84494800-84495000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr3:84510800-84511200	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr3:84525800-84526400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:84536400-84537200	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr3:84537200-84538400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr3:84538400-84538600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr3:84538400-84538800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr3:84538400-84538800	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr3:84538600-84538800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr3:84538800-84539000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr3:84541400-84541800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr3:84547600-84547800	Enhancers	HSMM	muscle
38	chr3:84547600-84548000	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr3:84547800-84548200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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