Variant report

Variant	nsv1049689
Chromosome Location	chr14:42686650-42943116
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	ATF2	chr14:42890942-42891236	GM12878	blood:	n/a	n/a
2	ATF2	chr14:42898121-42898501	GM12878	blood:	n/a	n/a
3	ATF2	chr14:42898123-42898538	GM12878	blood:	n/a	n/a
4	ATF2	chr14:42692066-42692469	GM12878	blood:	n/a	n/a
5	ATF2	chr14:42692045-42692786	GM12878	blood:	n/a	n/a
6	BATF	chr14:42890928-42891203	GM12878	blood:	n/a	chr14:42891116-42891127 chr14:42891154-42891165
7	BATF	chr14:42890963-42891282	GM12878	blood:	n/a	chr14:42891116-42891127 chr14:42891154-42891165
8	BATF	chr14:42807386-42807601	GM12878	blood:	n/a	chr14:42807519-42807530
9	BATF	chr14:42898158-42898555	GM12878	blood:	n/a	n/a
10	BATF	chr14:42692467-42692680	GM12878	blood:	n/a	chr14:42692576-42692587 chr14:42692577-42692587
11	BCL11A	chr14:42805119-42805441	H1-hESC	embryonic stem cell:	n/a	n/a
12	BCL11A	chr14:42792249-42792451	GM12878	blood:	n/a	n/a
13	BCL11A	chr14:42898127-42898592	GM12878	blood:	n/a	n/a
14	BCL11A	chr14:42898070-42898555	GM12878	blood:	n/a	n/a
15	BCL11A	chr14:42692221-42692389	GM12878	blood:	n/a	n/a
16	BCL11A	chr14:42890931-42891249	GM12878	blood:	n/a	n/a
17	BCL11A	chr14:42805184-42805444	H1-hESC	embryonic stem cell:	n/a	n/a
18	BHLHE40	chr14:42898065-42898516	GM12878	blood:	n/a	n/a
19	BHLHE40	chr14:42689589-42689608	GM12878	blood:	n/a	n/a
20	BHLHE40	chr14:42691918-42692724	GM12878	blood:	n/a	n/a
21	BRCA1	chr14:42765370-42765423	Hela-S3	cervix:	n/a	n/a
22	CCNT2	chr14:42932649-42932849	K562	blood:	n/a	n/a
23	CEBPB	chr14:42723181-42723431	HepG2	liver:	n/a	chr14:42723323-42723336
24	CEBPB	chr14:42688502-42688706	A549	lung:	n/a	chr14:42688620-42688631
25	CEBPB	chr14:42686488-42687090	HepG2	liver:	n/a	chr14:42686656-42686669 chr14:42686656-42686667
26	CEBPB	chr14:42688503-42688783	HepG2	liver:	n/a	chr14:42688620-42688631
27	CEBPB	chr14:42831158-42831173	HepG2	liver:	n/a	n/a
28	CEBPB	chr14:42689352-42689626	HepG2	liver:	n/a	chr14:42689534-42689547 chr14:42689536-42689547 chr14:42689536-42689545
29	CEBPB	chr14:42826701-42826845	A549	lung:	n/a	chr14:42826760-42826771
30	CEBPB	chr14:42814720-42815083	HepG2	liver:	n/a	chr14:42814932-42814943
31	CEBPB	chr14:42818287-42818489	HepG2	liver:	n/a	chr14:42818369-42818380 chr14:42818371-42818380 chr14:42818369-42818382
32	CEBPB	chr14:42854827-42854835	HepG2	liver:	n/a	n/a
33	CEBPB	chr14:42686663-42686863	H1-hESC	embryonic stem cell:	n/a	n/a
34	CEBPB	chr14:42731805-42732164	HepG2	liver:	n/a	chr14:42731982-42731993
35	CEBPB	chr14:42917905-42918115	HepG2	liver:	n/a	chr14:42918004-42918015
36	CEBPB	chr14:42791970-42792336	HepG2	liver:	n/a	n/a
37	CEBPB	chr14:42688483-42688798	IMR90	lung:	n/a	chr14:42688620-42688631
38	CEBPB	chr14:42898784-42898952	HepG2	liver:	n/a	chr14:42898837-42898848
39	CEBPB	chr14:42868466-42868631	HepG2	liver:	n/a	n/a
40	CEBPB	chr14:42826615-42826900	HepG2	liver:	n/a	chr14:42826760-42826771
41	CEBPB	chr14:42686647-42686957	Hela-S3	cervix:	n/a	chr14:42686656-42686669 chr14:42686656-42686667
42	CEBPB	chr14:42686494-42687039	IMR90	lung:	n/a	chr14:42686656-42686669 chr14:42686656-42686667
43	CEBPB	chr14:42686505-42686950	A549	lung:	n/a	chr14:42686656-42686669 chr14:42686656-42686667
44	CEBPB	chr14:42758460-42758763	HepG2	liver:	n/a	chr14:42758619-42758630
45	CEBPB	chr14:42941893-42942056	HepG2	liver:	n/a	chr14:42941935-42941946
46	CEBPB	chr14:42934361-42934461	HepG2	liver:	n/a	chr14:42934388-42934399
47	CHD1	chr14:42898060-42898418	GM12878	blood:	n/a	n/a
48	CHD1	chr14:42861094-42861135	GM12878	blood:	n/a	n/a
49	CHD2	chr14:42898044-42898538	GM12878	blood:	n/a	n/a
50	CTCF	chr14:42693620-42693770	HCPEpiC	choroid plexus:	n/a	chr14:42693679-42693695 chr14:42693681-42693694 chr14:42693681-42693690 chr14:42693680-42693701 chr14:42693683-42693693 chr14:42693678-42693696

No.	Distal block	Cell Line	Cell type
1	chr14:42716738..42718328-chr8:110964082..110966975,2	MCF-7	breast:
2	chr14:42933286..42933984-chr3:29810719..29811455,2	MCF-7	breast:
3	chr14:42933700..42935505-chr14:42937514..42939043,2	MCF-7	breast:
4	chr14:42676503..42678368-chr14:42692363..42693936,2	MCF-7	breast:
5	chr14:42706583..42708202-chr2:154103638..154105159,2	MCF-7	breast:
6	chr14:42693266..42693778-chr14:43474779..43475522,2	MCF-7	breast:
7	chr14:42790692..42792450-chr14:42801986..42803943,2	MCF-7	breast:
8	chr14:42871630..42873900-chr14:42876970..42879114,2	MCF-7	breast:
9	chr14:42854900..42857464-chr14:42857634..42860608,2	MCF-7	breast:
10	chr14:42854900..42857464-chr14:42857634..42860608,2	MCF-7	breast:
11	chr14:42871630..42873900-chr14:42876970..42879114,2	MCF-7	breast:
12	chr14:42933700..42935505-chr14:42937514..42939043,2	MCF-7	breast:
13	chr14:42790692..42792450-chr14:42801986..42803943,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-214N1.1.1-2	chr14:42881776-42882409	ENSG00000258850.1
2	lnc-FSCB-3	chr14:42728934-42729156	ENSG00000259149
3	lnc-FSCB-3	chr14:42737695-42737789	ENSG00000259149
4	lnc-RP11-214N1.1.1-1	chr14:42832186-42832203	ENSG00000258394.1
5	lnc-RP11-214N1.1.1-2	chr14:42881776-42883030	NONHSAT036588
6	lnc-RP11-214N1.1.1-1	chr14:42864148-42864295	ENSG00000258394.1

Variant related genes	Relation type
ENSG00000259149	TF binding region
ENSG00000222084	TF binding region
ENSG00000258850	TF binding region
ENSG00000258394	TF binding region

Extended variants
information (count: 2709 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:2709 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149607659	chr14:42686667-42686668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374731937	chr14:42686680-42686681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577518699	chr14:42686725-42686726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113310617	chr14:42686737-42686738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374024227	chr14:42686756-42686757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564580561	chr14:42686770-42686771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576572014	chr14:42686773-42686774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543823003	chr14:42686889-42686890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs117207095	chr14:42686900-42686901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529628449	chr14:42686919-42686920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375341586	chr14:42686922-42686923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186346947	chr14:42686954-42686955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148806498	chr14:42686976-42686977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191058417	chr14:42686986-42686987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551516549	chr14:42687074-42687075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76073428	chr14:42687105-42687106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs76778147	chr14:42687114-42687115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537514200	chr14:42687117-42687118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115987379	chr14:42687121-42687122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112972105	chr14:42687128-42687129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573396677	chr14:42687138-42687139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535781401	chr14:42687153-42687154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559752679	chr14:42687209-42687210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554105210	chr14:42687290-42687291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572329164	chr14:42687326-42687327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs118098218	chr14:42687363-42687364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557957255	chr14:42687365-42687366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573049993	chr14:42687366-42687367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576639914	chr14:42687388-42687389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543537540	chr14:42687435-42687436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562155636	chr14:42687456-42687457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34627223	chr14:42687500-42687501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371529766	chr14:42687549-42687550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182894542	chr14:42687575-42687576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147470217	chr14:42687577-42687578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562684158	chr14:42687628-42687629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139823233	chr14:42687632-42687633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533410635	chr14:42687704-42687705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375846028	chr14:42687797-42687798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551578174	chr14:42687824-42687825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563517884	chr14:42687825-42687826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145459100	chr14:42687834-42687835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549600459	chr14:42687857-42687858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114909145	chr14:42687898-42687899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34057482	chr14:42687905-42687906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535107543	chr14:42687909-42687910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547382793	chr14:42687916-42687917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200275805	chr14:42687955-42687956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576283223	chr14:42687964-42687965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561263369	chr14:42687999-42688000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Bipolar disorder	19114987	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Osteosarcoma	21215367	CNVD
Glioblastoma multiforme	21569311	CNVD
Schizophrenia	21346763	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:181 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:42683800-42691400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr14:42685600-42691000	Weak transcription	Osteobl	bone
3	chr14:42685800-42687200	Enhancers	NHEK	skin
4	chr14:42685800-42691400	Weak transcription	NHDF-Ad	bronchial
5	chr14:42686000-42687000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr14:42686000-42687200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:42686000-42691000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:42686600-42687000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:42686600-42687200	Enhancers	HMEC	breast
10	chr14:42687000-42692400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:42687200-42691600	Weak transcription	HMEC	breast
12	chr14:42687200-42692200	Weak transcription	NHEK	skin
13	chr14:42687200-42692400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:42691000-42692400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:42691000-42692400	Enhancers	Osteobl	bone
16	chr14:42691200-42692400	Enhancers	GM12878-XiMat	blood
17	chr14:42691400-42691800	Enhancers	Brain Germinal Matrix	brain
18	chr14:42691400-42691800	Enhancers	Fetal Muscle Leg	muscle
19	chr14:42691400-42692400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr14:42691400-42693600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr14:42691400-42693600	Enhancers	NH-A	brain
22	chr14:42691400-42693800	Enhancers	NHDF-Ad	bronchial
23	chr14:42691400-42694000	Enhancers	Primary B cells from cord blood	blood
24	chr14:42691600-42693600	Enhancers	Primary B cells from peripheral blood	blood
25	chr14:42691600-42693600	Enhancers	HMEC	breast
26	chr14:42691800-42692200	Weak transcription	Fetal Muscle Leg	muscle
27	chr14:42692000-42692600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr14:42692000-42692800	Enhancers	Fetal Brain Female	brain
29	chr14:42692000-42692800	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr14:42692000-42693400	Enhancers	Colon Smooth Muscle	Colon
31	chr14:42692000-42693600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr14:42692200-42692400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:42692200-42693600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr14:42692200-42693600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr14:42692200-42693600	Enhancers	Fetal Muscle Leg	muscle
36	chr14:42692200-42693600	Enhancers	NHEK	skin
37	chr14:42692400-42692600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr14:42692400-42692800	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr14:42692400-42692800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:42692400-42692800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr14:42692400-42692800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr14:42692400-42692800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr14:42692400-42692800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr14:42692400-42692800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr14:42692400-42692800	Enhancers	Adipose Nuclei	Adipose
46	chr14:42692400-42692800	Enhancers	Brain Angular Gyrus	brain
47	chr14:42692400-42692800	Flanking Active TSS	GM12878-XiMat	blood
48	chr14:42692400-42692800	Enhancers	HSMMtube	muscle
49	chr14:42692400-42692800	Flanking Active TSS	Osteobl	bone
50	chr14:42692400-42693400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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