Variant report

Variant	esv32988
Chromosome Location	chr3:157200833-157209334
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	BCL3	chr3:157205946-157206258	GM12878	blood:	n/a	n/a
2	BCL3	chr3:157205972-157206219	GM12878	blood:	n/a	n/a
3	CEBPB	chr3:157205143-157205508	IMR90	lung:	n/a	n/a
4	CEBPB	chr3:157205223-157205435	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr3:157204139-157204220	GM20000	blood:	n/a	n/a
6	CTCF	chr3:157208760-157208910	HRPEpiC	eye:	n/a	n/a
7	EP300	chr3:157208488-157208649	K562	blood:	n/a	n/a
8	EP300	chr3:157205168-157205409	Hela-S3	cervix:	n/a	n/a
9	FOXA1	chr3:157208369-157208580	T-47D	breast:	n/a	n/a
10	MAFK	chr3:157208673-157208812	HepG2	liver:	n/a	n/a
11	NFYB	chr3:157206076-157206298	GM12878	blood:	n/a	chr3:157206169-157206184 chr3:157206194-157206209
12	NFYB	chr3:157206077-157206290	Hela-S3	cervix:	n/a	chr3:157206169-157206184 chr3:157206194-157206209
13	NFYB	chr3:157206018-157206353	K562	blood:	n/a	chr3:157206169-157206184 chr3:157206194-157206209
14	PBX3	chr3:157205901-157206317	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr3:157208232-157208385	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr3:157208532-157208668	MCF10A-Er-Src	breast:	n/a	n/a
17	REST	chr3:157205200-157205486	HL-60	blood:	n/a	n/a
18	STAT3	chr3:157208177-157208471	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:157206354..157208602-chr3:157216445..157218072,2	MCF-7	breast:

Variant related genes	Relation type
VEPH1	TF binding region
ENSG00000197415	chromatin interactions

Extended variants
information (count: 296 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:296 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185255877	chr3:157200850-157200851	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374548856	chr3:157200890-157200891	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372888596	chr3:157200912-157200913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs367798700	chr3:157200913-157200914	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs60205276	chr3:157200943-157200944	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532169167	chr3:157200959-157200960	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs117456903	chr3:157201050-157201051	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558821051	chr3:157201058-157201059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190182920	chr3:157201079-157201080	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559446742	chr3:157201145-157201146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75958190	chr3:157201155-157201156	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529754864	chr3:157201178-157201179	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547940750	chr3:157201186-157201187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115549908	chr3:157201211-157201212	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530686390	chr3:157201269-157201270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112481954	chr3:157201286-157201287	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550125358	chr3:157201317-157201318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571533881	chr3:157201370-157201371	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539061161	chr3:157201376-157201377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181966503	chr3:157201523-157201524	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566115448	chr3:157201532-157201533	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541350241	chr3:157201535-157201536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186200529	chr3:157201540-157201541	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555175442	chr3:157201546-157201547	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576739753	chr3:157201557-157201558	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142755263	chr3:157201592-157201593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs55725251	chr3:157201667-157201668	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs576760945	chr3:157201709-157201710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62280982	chr3:157201761-157201762	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs531935400	chr3:157201771-157201772	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559095734	chr3:157201812-157201813	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529761606	chr3:157201817-157201818	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191498722	chr3:157201819-157201820	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563119487	chr3:157201826-157201827	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530650560	chr3:157201840-157201841	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139477710	chr3:157201916-157201917	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145624952	chr3:157202063-157202064	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572148773	chr3:157202077-157202078	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528376777	chr3:157202146-157202147	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536901100	chr3:157202229-157202230	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114720434	chr3:157202309-157202310	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565964721	chr3:157202342-157202343	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114044808	chr3:157202375-157202376	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553297698	chr3:157202378-157202379	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548735473	chr3:157202409-157202410	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs570254227	chr3:157202455-157202456	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs537690277	chr3:157202475-157202476	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs376302388	chr3:157202530-157202531	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs558888774	chr3:157202567-157202568	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs147321272	chr3:157202591-157202592	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
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
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17142309	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:157185600-157211400	Weak transcription	HSMM	muscle
2	chr3:157187600-157210600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr3:157188000-157203000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr3:157194000-157212000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:157194400-157210200	Weak transcription	NH-A	brain
6	chr3:157194600-157217000	Weak transcription	Pancreas	Pancrea
7	chr3:157194800-157212000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:157198800-157204400	Weak transcription	HUVEC	blood vessel
9	chr3:157198800-157210400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:157199000-157211600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:157200000-157201800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:157200600-157202400	Strong transcription	Osteobl	bone
13	chr3:157200600-157203600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:157200800-157201200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:157201200-157206800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr3:157201800-157204600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:157202400-157204000	Weak transcription	Osteobl	bone
18	chr3:157203000-157203200	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr3:157203000-157204200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:157203200-157204200	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr3:157203600-157204400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:157204000-157204800	Enhancers	Osteobl	bone
23	chr3:157204200-157205400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr3:157204200-157206800	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr3:157204400-157204800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr3:157204400-157205400	Enhancers	Muscle Satellite Cultured Cells	--
27	chr3:157204400-157206000	Enhancers	HUVEC	blood vessel
28	chr3:157204600-157205000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:157204800-157205000	Enhancers	NHLF	lung
30	chr3:157204800-157205200	Flanking Active TSS	Osteobl	bone
31	chr3:157204800-157207400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:157205000-157205400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr3:157205000-157206000	Weak transcription	NHLF	lung
34	chr3:157205200-157206200	Enhancers	Osteobl	bone
35	chr3:157205400-157206200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:157205400-157206200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:157205400-157206200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr3:157206000-157206600	Enhancers	NHLF	lung
39	chr3:157206000-157206800	Enhancers	NHDF-Ad	bronchial
40	chr3:157206000-157207000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr3:157206000-157207200	Genic enhancers	HUVEC	blood vessel
42	chr3:157206200-157208600	Weak transcription	Osteobl	bone
43	chr3:157206200-157209400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:157206200-157211200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr3:157206200-157211200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr3:157206600-157211800	Weak transcription	NHLF	lung
47	chr3:157206800-157207200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr3:157206800-157211200	Weak transcription	NHDF-Ad	bronchial
49	chr3:157207000-157207200	Enhancers	Fetal Kidney	kidney
50	chr3:157207000-157211400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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