Variant report

Variant	nsv980024
Chromosome Location	chr3:146709143-146728833
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	chr3:146723668-146723949	IMR90	lung:	n/a	chr3:146723818-146723829
2	CEBPB	chr3:146723680-146723890	HepG2	liver:	n/a	chr3:146723818-146723829
3	CEBPB	chr3:146715450-146715793	HepG2	liver:	n/a	n/a
4	CTCF	chr3:146726178-146726268	ProgFib	skin:	n/a	n/a
5	CTCF	chr3:146713299-146713335	GM13977	blood:	n/a	n/a
6	CTCF	chr3:146724986-146725012	Medullo	brain:	n/a	n/a
7	CTCF	chr3:146718231-146718297	GM13976	blood:	n/a	n/a
8	FOXA1	chr3:146726619-146726865	T-47D	breast:	n/a	n/a
9	FOXA1	chr3:146725521-146725759	T-47D	breast:	n/a	n/a
10	FOXA1	chr3:146725431-146725735	T-47D	breast:	n/a	n/a
11	GATA3	chr3:146709339-146710183	SK-N-SH	brain:	n/a	chr3:146709708-146709729
12	GATA3	chr3:146725412-146725785	T-47D	breast:	n/a	n/a
13	GATA3	chr3:146709423-146710212	SK-N-SH	brain:	n/a	chr3:146709708-146709729
14	IRF1	chr3:146728805-146728950	K562	blood:	n/a	n/a
15	JUN	chr3:146718153-146718379	HepG2	liver:	n/a	chr3:146718261-146718274
16	JUND	chr3:146718160-146718415	HepG2	liver:	n/a	n/a
17	JUND	chr3:146725553-146725681	HepG2	liver:	n/a	n/a
18	MAFK	chr3:146715502-146715746	HepG2	liver:	n/a	n/a
19	MAFK	chr3:146718295-146718328	HepG2	liver:	n/a	n/a
20	MAFK	chr3:146719568-146719609	H1-hESC	embryonic stem cell:	n/a	n/a
21	MXI1	chr3:146710578-146710591	GM12878	blood:	n/a	n/a
22	MYC	chr3:146718007-146718024	K562	blood:	n/a	n/a
23	POLR2A	chr3:146716191-146716317	MCF-7	breast:	n/a	n/a
24	POLR2A	chr3:146709403-146709562	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr3:146708971-146709329	H1-neurons	neurons:	n/a	n/a
26	POLR2A	chr3:146715941-146716071	MCF10A-Er-Src	breast:	n/a	n/a
27	TCF12	chr3:146717840-146718420	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:146724156..146724656-chr7:158811116..158812074,2	MCF-7	breast:
2	chr3:146715446..146717460-chr3:146722255..146724620,2	K562	blood:
3	chr3:146714192..146714735-chr3:146728166..146728967,2	MCF-7	breast:
4	chr3:146715446..146717460-chr3:146722255..146724620,2	K562	blood:

Variant related genes	Relation type
RNU6-505P	TF binding region
ENSG00000207156	chromatin interactions

Extended variants
information (count: 165 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:165 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540456101	chr3:146715458-146715459	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs137894191	chr3:146715460-146715461	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs532340815	chr3:146715492-146715493	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs148100108	chr3:146715654-146715655	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs200441751	chr3:146715664-146715665	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs564405559	chr3:146715666-146715667	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs568152245	chr3:146715695-146715696	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs183620686	chr3:146715736-146715737	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs549646676	chr3:146715742-146715743	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs569204464	chr3:146715764-146715765	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs149459418	chr3:146715980-146715981	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs571108061	chr3:146715995-146715996	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs539771039	chr3:146715996-146715997	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs558521052	chr3:146715997-146715998	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs575270534	chr3:146715998-146715999	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs555529248	chr3:146716010-146716011	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs544230852	chr3:146716029-146716030	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs377364429	chr3:146716203-146716204	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs560118985	chr3:146716204-146716205	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs532436005	chr3:146716218-146716219	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs545822982	chr3:146716267-146716268	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs562807750	chr3:146716277-146716278	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs546971083	chr3:146716305-146716306	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs566784150	chr3:146716306-146716307	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs370435736	chr3:146717878-146717879	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs142850254	chr3:146717885-146717886	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs552115380	chr3:146717888-146717889	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs527266852	chr3:146717916-146717917	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs75072043	chr3:146717959-146717960	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs570440821	chr3:146717963-146717964	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs563628928	chr3:146718010-146718011	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs539550403	chr3:146718086-146718087	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs369915937	chr3:146718107-146718108	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs112720301	chr3:146718112-146718113	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs375267507	chr3:146718128-146718129	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs190184305	chr3:146718155-146718156	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs139219241	chr3:146718156-146718157	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs139671251	chr3:146718170-146718171	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs149772776	chr3:146718238-146718239	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs572320373	chr3:146718266-146718267	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs181337155	chr3:146718274-146718275	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs144826288	chr3:146718296-146718297	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs578030202	chr3:146718316-146718317	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs542884273	chr3:146718334-146718335	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs543973010	chr3:146718344-146718345	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs563779202	chr3:146718349-146718350	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs545565537	chr3:146718371-146718372	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs529459206	chr3:146718420-146718421	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs2134275	chr3:146725217-146725218	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs534276285	chr3:146725266-146725267	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146725200-146726000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr3:146725200-146727800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:146725600-146727800	Enhancers	NHDF-Ad	bronchial
4	chr3:146726000-146726400	Enhancers	Gastric	stomach
5	chr3:146726000-146726800	Enhancers	Pancreas	Pancrea
6	chr3:146726000-146727000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:146726000-146727200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:146726000-146727400	Enhancers	HSMM	muscle
9	chr3:146726000-146727600	Enhancers	Osteobl	bone
10	chr3:146726200-146727200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:146726800-146727600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:146727200-146727400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr3:146727200-146727600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr3:146727200-146727600	Enhancers	Placenta Amnion	Placenta Amnion
15	chr3:146727800-146730400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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