Variant report

Variant	nsv967014
Chromosome Location	chr3:48160651-48164284
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	CTCF	chr3:48161200-48161350	AG09319	gingival:	n/a	n/a
2	CTCF	chr3:48161200-48161350	AG10803	skin:	n/a	n/a
3	CTCF	chr3:48161140-48161290	NHDF-neo	bronchial:	n/a	n/a
4	CTCF	chr3:48161140-48161290	HFF	foreskin:	n/a	n/a
5	CTCF	chr3:48161200-48161350	HMF	breast:	n/a	n/a
6	CTCF	chr3:48161160-48161310	HPF	lung:	n/a	n/a
7	CTCF	chr3:48161200-48161350	NHLF	lung:	n/a	n/a
8	CTCF	chr3:48161200-48161350	BJ	skin:	n/a	n/a
9	CTCF	chr3:48161160-48161310	AoAF	blood vessel:	n/a	n/a
10	CTCF	chr3:48161160-48161310	BJ	skin:	n/a	n/a
11	CTCF	chr3:48161220-48161370	HPF	lung:	n/a	n/a
12	CTCF	chr3:48161190-48161334	IMR90	lung:	n/a	n/a
13	CTCF	chr3:48161193-48161297	Kidney_OC	kidney:	n/a	n/a
14	CTCF	chr3:48161120-48161270	HCPEpiC	choroid plexus:	n/a	n/a
15	CTCF	chr3:48161160-48161310	AG09319	gingival:	n/a	n/a
16	CTCF	chr3:48161160-48161310	AG04449	skin:	n/a	n/a
17	CTCF	chr3:48161160-48161310	HPAF	blood vessel:	n/a	n/a
18	CTCF	chr3:48161180-48161330	HAc	cerebellar:	n/a	n/a
19	CTCF	chr3:48161120-48161270	NHDF-neo	bronchial:	n/a	n/a
20	CTCF	chr3:48161220-48161370	HCPEpiC	choroid plexus:	n/a	n/a
21	CTCF	chr3:48161232-48161290	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr3:48161180-48161330	HCFaa	heart:	n/a	n/a
23	CTCF	chr3:48161220-48161370	AoAF	blood vessel:	n/a	n/a
24	CTCF	chr3:48161200-48161350	HPAF	blood vessel:	n/a	n/a
25	IRF1	chr3:48161008-48161275	K562	blood:	n/a	chr3:48161172-48161186 chr3:48161171-48161185 chr3:48161171-48161184 chr3:48161172-48161182 chr3:48161170-48161190 chr3:48161171-48161184
26	SPI1	chr3:48162624-48162825	K562	blood:	n/a	chr3:48162733-48162746 chr3:48162737-48162744 chr3:48162733-48162746
27	SPI1	chr3:48162592-48162933	HL-60	blood:	n/a	chr3:48162733-48162746 chr3:48162737-48162744 chr3:48162733-48162746
28	STAT3	chr3:48163709-48163909	MCF10A-Er-Src	breast:	n/a	n/a
29	TBL1XR1	chr3:48161843-48161959	K562	blood:	n/a	n/a
30	ZBTB33	chr3:48163403-48163645	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:48149127..48150662-chr3:48159102..48160771,2	K562	blood:

Variant related genes	Relation type
ENSG00000236768	TF binding region

Extended variants
information (count: 123 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545298842	chr3:48160661-48160662	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs560718971	chr3:48160748-48160749	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs572641025	chr3:48160758-48160759	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs543165164	chr3:48160769-48160770	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs186735506	chr3:48160790-48160791	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs531746299	chr3:48160792-48160793	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs543835394	chr3:48160845-48160846	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs377223347	chr3:48160872-48160873	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs189543434	chr3:48160957-48160958	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs575769901	chr3:48160967-48160968	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs138515627	chr3:48161063-48161064	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs370000410	chr3:48161074-48161075	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs566682251	chr3:48161082-48161083	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs527439833	chr3:48161130-48161131	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs183281780	chr3:48161140-48161141	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs548681371	chr3:48161175-48161176	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs567016248	chr3:48161192-48161193	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs537492498	chr3:48161194-48161195	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs373009058	chr3:48161204-48161205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs143996295	chr3:48161320-48161321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187919189	chr3:48161323-48161324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559918324	chr3:48161397-48161398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192481342	chr3:48161398-48161399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201077134	chr3:48161407-48161408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572678915	chr3:48161480-48161481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs202136717	chr3:48161493-48161494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147291598	chr3:48161534-48161535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561396377	chr3:48161683-48161684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs6442103	chr3:48161696-48161697	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs543486471	chr3:48161717-48161718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573902758	chr3:48161735-48161736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185401898	chr3:48161763-48161764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565297463	chr3:48161819-48161820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs79320148	chr3:48161820-48161821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138883881	chr3:48161857-48161858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149278601	chr3:48161871-48161872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188317993	chr3:48162029-48162030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548766430	chr3:48162059-48162060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567047634	chr3:48162108-48162109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557522184	chr3:48162116-48162117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374304158	chr3:48162117-48162118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531288276	chr3:48162163-48162164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144493539	chr3:48162165-48162166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148413194	chr3:48162223-48162224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533663692	chr3:48162250-48162251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372203023	chr3:48162252-48162253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528542121	chr3:48162253-48162254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs372710220	chr3:48162263-48162264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536875848	chr3:48162296-48162297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555185789	chr3:48162322-48162323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medullary thyroid carcinoma	18765511	CNVD
abnormal development	18461090	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48141400-48166800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:48149200-48162400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:48154800-48166400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr3:48158000-48166400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr3:48158000-48166600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr3:48159800-48162000	Enhancers	Ovary	ovary
7	chr3:48160000-48160800	Enhancers	Left Ventricle	heart
8	chr3:48160000-48161400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr3:48160200-48161400	Enhancers	Fetal Muscle Leg	muscle
10	chr3:48160200-48161800	Weak transcription	Spleen	Spleen
11	chr3:48160200-48163600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:48160200-48166400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr3:48160200-48166800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr3:48160400-48160800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:48160400-48161000	Enhancers	Adipose Nuclei	Adipose
16	chr3:48160400-48161800	Enhancers	HepG2	liver
17	chr3:48160600-48160800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:48160600-48160800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:48160600-48161000	Enhancers	Right Atrium	heart
20	chr3:48160600-48161200	Enhancers	Fetal Muscle Trunk	muscle
21	chr3:48160600-48161200	Enhancers	NHDF-Ad	bronchial
22	chr3:48160600-48161200	Enhancers	NHLF	lung
23	chr3:48160600-48161400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:48160600-48161400	Enhancers	Placenta	Placenta
25	chr3:48160600-48161400	Enhancers	Fetal Stomach	stomach
26	chr3:48160800-48161000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:48160800-48161000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:48160800-48161000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:48160800-48161000	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr3:48160800-48161600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr3:48161000-48161200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr3:48161000-48161200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr3:48161000-48161200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr3:48161000-48161200	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr3:48161000-48161400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr3:48161000-48161400	Enhancers	Hela-S3	cervix
37	chr3:48161000-48166800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr3:48161200-48161400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr3:48161200-48161400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr3:48161200-48161400	Enhancers	Adipose Nuclei	Adipose
41	chr3:48161200-48161600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr3:48161200-48165400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr3:48161200-48166000	Weak transcription	NHLF	lung
44	chr3:48161200-48171200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr3:48161400-48162000	Weak transcription	NHDF-Ad	bronchial
46	chr3:48161400-48162200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr3:48161400-48162200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr3:48161400-48164000	Weak transcription	Placenta	Placenta
49	chr3:48161400-48165200	Weak transcription	Hela-S3	cervix
50	chr3:48161400-48166200	Weak transcription	Adipose Nuclei	Adipose

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