Variant report

Variant	nsv834741
Chromosome Location	chr3:77850810-77989684
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	chr3:77983524-77983610	HepG2	liver:	n/a	chr3:77983590-77983601 chr3:77983592-77983603 chr3:77983590-77983603 chr3:77983592-77983603 chr3:77983590-77983603 chr3:77983590-77983603
2	CEBPB	chr3:77967360-77967465	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr3:77950492-77950745	HepG2	liver:	n/a	chr3:77950663-77950674 chr3:77950623-77950634
4	CEBPB	chr3:77924011-77924215	A549	lung:	n/a	n/a
5	CEBPB	chr3:77962712-77963049	HepG2	liver:	n/a	n/a
6	CEBPB	chr3:77950514-77950820	A549	lung:	n/a	chr3:77950663-77950674 chr3:77950623-77950634
7	CEBPB	chr3:77936514-77936705	HepG2	liver:	n/a	chr3:77936644-77936655
8	CEBPB	chr3:77910195-77910414	HepG2	liver:	n/a	chr3:77910285-77910296
9	CEBPB	chr3:77874416-77874835	Hela-S3	cervix:	n/a	n/a
10	CHD1	chr3:77874392-77874422	GM12878	blood:	n/a	n/a
11	CHD2	chr3:77874408-77874777	Hela-S3	cervix:	n/a	n/a
12	CREB1	chr3:77864637-77864989	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr3:77864720-77864870	GM12866	blood:	n/a	chr3:77864823-77864841 chr3:77864818-77864839
14	CTCF	chr3:77864800-77864950	HCPEpiC	choroid plexus:	n/a	chr3:77864823-77864841 chr3:77864818-77864839
15	CTCF	chr3:77864720-77864870	WERI-Rb-1	eye:	n/a	chr3:77864823-77864841 chr3:77864818-77864839
16	CTCF	chr3:77864680-77864830	NB4	blood:	n/a	n/a
17	CTCF	chr3:77864720-77864870	NHLF	lung:	n/a	chr3:77864823-77864841 chr3:77864818-77864839
18	CTCF	chr3:77977280-77977430	HMEC	breast:	n/a	n/a
19	CTCF	chr3:77874240-77874390	AG09309	skin:	n/a	n/a
20	CTCF	chr3:77864700-77864850	GM12867	blood:	n/a	chr3:77864823-77864841 chr3:77864818-77864839
21	CTCF	chr3:77864780-77864930	MCF-7	breast:	n/a	chr3:77864823-77864841 chr3:77864818-77864839
22	CTCF	chr3:77864713-77864960	MCF-7	breast:	n/a	chr3:77864823-77864841 chr3:77864818-77864839
23	CTCF	chr3:77864740-77864890	GM12878	blood:	n/a	chr3:77864823-77864841 chr3:77864818-77864839
24	CTCF	chr3:77864800-77864950	Caco-2	colon:	n/a	chr3:77864823-77864841 chr3:77864818-77864839
25	CTCF	chr3:77864620-77864770	AG04450	lung:	n/a	n/a
26	CTCF	chr3:77864840-77864990	HFF-Myc	foreskin:	n/a	n/a
27	CTCF	chr3:77864572-77865015	H1-hESC	embryonic stem cell:	n/a	chr3:77864823-77864841 chr3:77864818-77864839
28	CTCF	chr3:77864740-77864890	AG10803	skin:	n/a	chr3:77864823-77864841 chr3:77864818-77864839
29	CTCF	chr3:77864758-77864911	GM13977	blood:	n/a	chr3:77864823-77864841 chr3:77864818-77864839
30	CTCF	chr3:77864740-77864890	HA-sp	spinal cord:	n/a	chr3:77864823-77864841 chr3:77864818-77864839
31	CTCF	chr3:77864750-77864921	HepG2	liver:	n/a	chr3:77864823-77864841 chr3:77864818-77864839
32	CTCF	chr3:77970840-77970990	HRPEpiC	eye:	n/a	n/a
33	CTCF	chr3:77864840-77864990	HCM	heart:	n/a	n/a
34	CTCF	chr3:77864740-77864890	WERI-Rb-1	eye:	n/a	chr3:77864823-77864841 chr3:77864818-77864839
35	CTCF	chr3:77864553-77865027	MCF-7	breast:	n/a	chr3:77864823-77864841 chr3:77864818-77864839
36	CTCF	chr3:77864620-77864770	HAc	cerebellar:	n/a	n/a
37	CTCF	chr3:77864720-77864870	HMF	breast:	n/a	chr3:77864823-77864841 chr3:77864818-77864839
38	CTCF	chr3:77864840-77864990	HAc	cerebellar:	n/a	n/a
39	CTCF	chr3:77864735-77864891	H1-hESC	embryonic stem cell:	n/a	chr3:77864823-77864841 chr3:77864818-77864839
40	CTCF	chr3:77874240-77874390	HMEC	breast:	n/a	n/a
41	CTCF	chr3:77864760-77864910	Caco-2	colon:	n/a	chr3:77864823-77864841 chr3:77864818-77864839
42	CTCF	chr3:77864740-77864890	SK-N-SH_RA	brain:	n/a	chr3:77864823-77864841 chr3:77864818-77864839
43	CTCF	chr3:77864780-77864930	RPTEC	kidney:	n/a	chr3:77864823-77864841 chr3:77864818-77864839
44	CTCF	chr3:77887942-77887965	GM12891	blood:	n/a	n/a
45	CTCF	chr3:77864720-77864870	GM12869	blood:	n/a	chr3:77864823-77864841 chr3:77864818-77864839
46	CTCF	chr3:77987400-77987550	WI-38	lung:	n/a	n/a
47	CTCF	chr3:77864840-77864990	RPTEC	kidney:	n/a	n/a
48	CTCF	chr3:77864780-77864930	HPF	lung:	n/a	chr3:77864823-77864841 chr3:77864818-77864839
49	CTCF	chr3:77864800-77864950	GM12871	blood:	n/a	chr3:77864823-77864841 chr3:77864818-77864839
50	CTCF	chr3:77864840-77864990	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:77969749..77971465-chr3:77973661..77975250,2	MCF-7	breast:
2	chr3:77397316..77398033-chr3:77864577..77865232,2	MCF-7	breast:
3	chr3:77690317..77691982-chr3:77969350..77971249,2	MCF-7	breast:
4	chr3:77872762..77874698-chr3:77899434..77901272,2	MCF-7	breast:
5	chr3:77864350..77865332-chr3:78253776..78254517,3	MCF-7	breast:
6	chr3:77872762..77874698-chr3:77899434..77901272,2	MCF-7	breast:
7	chr3:77969749..77971465-chr3:77973661..77975250,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ROBO1-5	chr3:77978769-77979156	l_2396_chr3:77978476-77982732_testes
2	lnc-ROBO1-5	chr3:77978477-77978762	l_2396_chr3:77978476-77982732_testes
3	lnc-ROBO1-5	chr3:77981227-77981312	l_2396_chr3:77978476-77982732_testes
4	lnc-ROBO1-5	chr3:77982634-77982732	l_2396_chr3:77978476-77982732_testes

Variant related genes	Relation type
ENSG00000264841	TF binding region
RNU6-217P	TF binding region

Extended variants
information (count: 2548 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:2548 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149540728	chr3:77850815-77850816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533601504	chr3:77850965-77850966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550104007	chr3:77850975-77850976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542625848	chr3:77850985-77850986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563665258	chr3:77851018-77851019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531477819	chr3:77851028-77851029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551489750	chr3:77851049-77851050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571320131	chr3:77851062-77851063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532422575	chr3:77851104-77851105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35056501	chr3:77851113-77851114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547246412	chr3:77851248-77851249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567566927	chr3:77851256-77851257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536141147	chr3:77851273-77851274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556166770	chr3:77851333-77851334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540278634	chr3:77851384-77851385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538789197	chr3:77851389-77851390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79288757	chr3:77851415-77851416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12495475	chr3:77851477-77851478	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs79321971	chr3:77851499-77851500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77511884	chr3:77851512-77851513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs111464375	chr3:77851560-77851561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567550237	chr3:77858247-77858248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536199782	chr3:77858255-77858256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189956399	chr3:77858365-77858366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529479886	chr3:77858381-77858382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182547066	chr3:77858384-77858385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558860968	chr3:77858408-77858409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572731425	chr3:77858490-77858491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186520233	chr3:77858503-77858504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560138253	chr3:77858519-77858520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573680569	chr3:77858533-77858534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542602040	chr3:77858554-77858555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368603456	chr3:77858555-77858556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143042818	chr3:77858581-77858582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531415020	chr3:77858587-77858588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551589979	chr3:77858593-77858594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564924697	chr3:77858737-77858738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191210578	chr3:77858742-77858743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs141048073	chr3:77858862-77858863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372442541	chr3:77858875-77858876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144174060	chr3:77858927-77858928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376732101	chr3:77858937-77858938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12638773	chr3:77858954-77858955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573148662	chr3:77862133-77862134	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs367548708	chr3:77862139-77862140	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs377132162	chr3:77863009-77863010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs193214156	chr3:77863018-77863019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376339757	chr3:77863063-77863064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142533274	chr3:77863082-77863083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs529591815	chr3:77863140-77863141	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Autism	22102821	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	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
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:177 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:77848400-77851600	Enhancers	Brain Germinal Matrix	brain
2	chr3:77850400-77851000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr3:77850600-77851200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr3:77851000-77851200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr3:77858200-77859000	Enhancers	HUVEC	blood vessel
6	chr3:77858400-77859000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr3:77863000-77863600	Enhancers	Brain Germinal Matrix	brain
8	chr3:77863600-77864600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:77864600-77864800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr3:77864800-77865400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr3:77867800-77868600	Enhancers	HUVEC	blood vessel
12	chr3:77868600-77870400	Weak transcription	HUVEC	blood vessel
13	chr3:77870200-77870600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr3:77870400-77870600	Enhancers	HUVEC	blood vessel
15	chr3:77870600-77874000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:77873800-77875600	Enhancers	HMEC	breast
17	chr3:77873800-77875600	Enhancers	NHEK	skin
18	chr3:77874000-77874400	Enhancers	Hela-S3	cervix
19	chr3:77874000-77875000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:77874000-77875200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr3:77874000-77875600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:77874200-77874600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:77874200-77874600	Enhancers	NHDF-Ad	bronchial
24	chr3:77874200-77875000	Enhancers	NH-A	brain
25	chr3:77874200-77875200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr3:77874200-77875200	Enhancers	HUVEC	blood vessel
27	chr3:77874200-77875400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:77874200-77875400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr3:77874400-77874600	Flanking Active TSS	Hela-S3	cervix
30	chr3:77874400-77875000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr3:77874400-77875200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr3:77874400-77875400	Enhancers	Esophagus	oesophagus
33	chr3:77874600-77874800	Enhancers	Hela-S3	cervix
34	chr3:77874600-77875200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr3:77874600-77875400	Enhancers	Gastric	stomach
36	chr3:77874800-77875000	Flanking Active TSS	Hela-S3	cervix
37	chr3:77874800-77875200	Enhancers	Lung	lung
38	chr3:77875000-77875400	Enhancers	Hela-S3	cervix
39	chr3:77878200-77878400	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr3:77878400-77879000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr3:77879000-77879600	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr3:77879600-77880600	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr3:77880400-77881400	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr3:77880400-77881600	Enhancers	H1 Cell Line	embryonic stem cell
45	chr3:77880600-77882000	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr3:77880600-77884200	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr3:77880800-77881400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr3:77880800-77881400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr3:77881000-77881200	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr3:77881000-77881200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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