Variant report

Variant	nsv1041194
Chromosome Location	chr14:85853080-85896552
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:412)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:29)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:412 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:85881699-85881931	HepG2	liver:	n/a	n/a
2	ATF3	chr14:85881481-85882124	A549	lung:	n/a	n/a
3	ATF3	chr14:85881535-85882098	A549	lung:	n/a	n/a
4	BCL3	chr14:85881403-85882031	A549	lung:	n/a	n/a
5	BCL3	chr14:85883159-85883668	A549	lung:	n/a	n/a
6	BCL3	chr14:85881410-85882116	A549	lung:	n/a	n/a
7	BHLHE40	chr14:85883298-85883524	A549	lung:	n/a	n/a
8	BRCA1	chr14:85881756-85882111	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr14:85858946-85859144	A549	lung:	n/a	chr14:85859034-85859045
10	CEBPB	chr14:85877704-85878010	HepG2	liver:	n/a	chr14:85877844-85877855
11	CEBPB	chr14:85883059-85883574	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr14:85858903-85859183	HepG2	liver:	n/a	chr14:85859034-85859045
13	CEBPB	chr14:85883032-85883542	IMR90	lung:	n/a	n/a
14	CEBPB	chr14:85883006-85883536	A549	lung:	n/a	n/a
15	CEBPB	chr14:85881661-85882037	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr14:85887666-85888246	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr14:85887575-85887787	A549	lung:	n/a	n/a
18	CEBPB	chr14:85859044-85859046	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr14:85887528-85888280	IMR90	lung:	n/a	n/a
20	CEBPB	chr14:85882967-85883745	A549	lung:	n/a	n/a
21	CEBPB	chr14:85881630-85881991	IMR90	lung:	n/a	n/a
22	CEBPB	chr14:85875790-85876083	Hela-S3	cervix:	n/a	chr14:85875943-85875956
23	CHD1	chr14:85881690-85882218	IMR90	lung:	n/a	n/a
24	CHD2	chr14:85881627-85882024	Hela-S3	cervix:	n/a	n/a
25	CREB1	chr14:85881666-85881995	A549	lung:	n/a	n/a
26	CREB1	chr14:85881686-85882004	A549	lung:	n/a	n/a
27	CTCF	chr14:85881183-85882086	A549	lung:	n/a	n/a
28	CTCF	chr14:85881715-85881841	MCF-7	breast:	n/a	n/a
29	CTCF	chr14:85881720-85881870	HCFaa	heart:	n/a	n/a
30	CTCF	chr14:85881589-85881917	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr14:85881660-85881810	HPF	lung:	n/a	n/a
32	CTCF	chr14:85891960-85892110	HRPEpiC	eye:	n/a	n/a
33	CTCF	chr14:85881700-85881850	HUVEC	blood vessel:	n/a	n/a
34	CTCF	chr14:85881700-85881850	GM12871	blood:	n/a	n/a
35	CTCF	chr14:85891940-85892090	AG04449	skin:	n/a	n/a
36	CTCF	chr14:85881638-85881890	MCF-7	breast:	n/a	n/a
37	CTCF	chr14:85881700-85881850	HCPEpiC	choroid plexus:	n/a	n/a
38	CTCF	chr14:85891900-85892050	A549	lung:	n/a	n/a
39	CTCF	chr14:85891860-85892010	MCF-7	breast:	n/a	n/a
40	CTCF	chr14:85881627-85881897	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr14:85881640-85881790	NHDF-neo	bronchial:	n/a	n/a
42	CTCF	chr14:85881700-85881850	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr14:85881708-85881865	GM12878	blood:	n/a	n/a
44	CTCF	chr14:85881720-85881870	HCPEpiC	choroid plexus:	n/a	n/a
45	CTCF	chr14:85881700-85881850	HPAF	blood vessel:	n/a	n/a
46	CTCF	chr14:85881581-85881954	A549	lung:	n/a	n/a
47	CTCF	chr14:85891960-85892110	HMF	breast:	n/a	n/a
48	CTCF	chr14:85881660-85881810	NHDF-neo	bronchial:	n/a	n/a
49	CTCF	chr14:85892060-85892210	HCM	heart:	n/a	n/a
50	CTCF	chr14:85891960-85892110	HPAF	blood vessel:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:85892365..85894475-chr14:85895714..85897702,2	MCF-7	breast:
2	chr14:85892365..85894475-chr14:85895714..85897702,2	MCF-7	breast:
3	chr14:85889551..85891832-chr14:85903089..85906086,2	MCF-7	breast:
4	chr14:85881371..85882361-chr14:85994552..85995082,2	MCF-7	breast:
5	chr1:184112901..184113401-chr14:85878375..85878904,2	MCF-7	breast:

(count:29 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-497E19.2.1-2	chr14:85853619-85853698	ENSG00000258814
2	lnc-RP11-497E19.2.1-1	chr14:85860223-85860243	ENSG00000259107
3	lnc-RP11-497E19.2.1-5	chr14:85893591-85893779	l_1024_chr14:85867660-85893779_testes
4	lnc-RP11-497E19.2.1-1	chr14:85860255-85860303	XLOC_010889
5	lnc-RP11-497E19.2.1-5	chr14:85872507-85872583	l_1024_chr14:85867660-85893779_testes
6	lnc-RP11-497E19.2.1-1	chr14:85874245-85874380	NONHSAT038117
7	lnc-RP11-497E19.2.1-5	chr14:85867661-85867767	l_1024_chr14:85867660-85893779_testes
8	lnc-RP11-497E19.2.1-1	chr14:85886028-85886416	NONHSAT038117
9	lnc-GALC-9	chr14:85872261-85872324	ENSG00000258902
10	lnc-RP11-497E19.2.1-2	chr14:85854524-85854805	ENSG00000258814
11	lnc-RP11-497E19.2.1-1	chr14:85874226-85874384	NONHSAT038113
12	lnc-RP11-497E19.2.1-1	chr14:85881204-85881292	XLOC_010889
13	lnc-GALC-9	chr14:85864493-85864675	ENSG00000258902
14	lnc-RP11-497E19.2.1-1	chr14:85860202-85860303	XLOC_010889
15	lnc-RP11-497E19.2.1-1	chr14:85886028-85886418	ENSG00000259107
16	lnc-RP11-497E19.2.1-1	chr14:85886027-85886426	NONHSAT038113
17	lnc-RP11-497E19.2.1-1	chr14:85886028-85886418	NR_102738
18	lnc-RP11-497E19.2.1-1	chr14:85881203-85881292	NONHSAT038113
19	lnc-RP11-497E19.2.1-1	chr14:85860201-85860303	NONHSAT038113
20	lnc-RP11-497E19.2.1-2	chr14:85854961-85855109	ENSG00000258814
21	lnc-RP11-497E19.2.1-1	chr14:85874247-85874380	ENSG00000259107
22	lnc-RP11-497E19.2.1-1	chr14:85886028-85886426	XLOC_010889
23	lnc-RP11-497E19.2.1-1	chr14:85886028-85886426	XLOC_010889
24	lnc-RP11-497E19.2.1-1	chr14:85886028-85886426	XLOC_010889
25	lnc-RP11-497E19.2.1-1	chr14:85860259-85860303	NR_102738
26	lnc-RP11-497E19.2.1-1	chr14:85860292-85860303	ENSG00000259107
27	lnc-RP11-497E19.2.1-1	chr14:85886028-85886396	ENSG00000259107
28	lnc-RP11-497E19.2.1-1	chr14:85874247-85874380	XLOC_010889
29	lnc-RP11-497E19.2.1-5	chr14:85868405-85868565	l_1024_chr14:85867660-85893779_testes

No data

Variant related genes	Relation type
ENSG00000258814	TF binding region
LINC00911	TF binding region
ENSG00000258945	chromatin interactions
ERGIC3	miRNA target sites
POMC	miRNA target sites

Extended variants
information (count: 1624 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1624 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561803634	chr14:85853422-85853423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373784756	chr14:85853438-85853439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573854665	chr14:85853440-85853441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544211633	chr14:85853478-85853479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111715532	chr14:85853479-85853480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141635008	chr14:85853504-85853505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145925126	chr14:85853552-85853553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559824855	chr14:85853594-85853595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189586099	chr14:85853622-85853623	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs139812469	chr14:85853649-85853650	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs142289471	chr14:85853666-85853667	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs568595423	chr14:85853673-85853674	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs529582655	chr14:85853713-85853714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551344798	chr14:85853786-85853787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569230024	chr14:85853824-85853825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539852740	chr14:85853870-85853871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182058221	chr14:85853890-85853891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116637606	chr14:85853892-85853893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146389353	chr14:85853929-85853930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185096980	chr14:85853938-85853939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34787391	chr14:85853940-85853941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544587232	chr14:85853949-85853950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573793020	chr14:85853961-85853962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188887155	chr14:85853968-85853969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556040717	chr14:85853991-85853992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577175717	chr14:85853992-85853993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs3736818	chr14:85854544-85854545	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs3736817	chr14:85854545-85854546	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs571993603	chr14:85854577-85854578	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs375870881	chr14:85854616-85854617	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs556391846	chr14:85854625-85854626	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs148730992	chr14:85854651-85854652	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs574837830	chr14:85854678-85854679	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs181544032	chr14:85854694-85854695	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs3830976	chr14:85854716-85854717	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs185922672	chr14:85854723-85854724	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs11623187	chr14:85854724-85854725	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs142342564	chr14:85854763-85854764	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs541810032	chr14:85854773-85854774	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs552140299	chr14:85854776-85854777	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs537771538	chr14:85854781-85854782	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs560534122	chr14:85854786-85854787	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs574482212	chr14:85854967-85854968	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs549415468	chr14:85854994-85854995	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs567668895	chr14:85855001-85855002	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs537621495	chr14:85855031-85855032	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs555723795	chr14:85855045-85855046	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs191223438	chr14:85855072-85855073	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs183655028	chr14:85855079-85855080	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs576184610	chr14:85855086-85855087	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
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
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
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21569311	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:325 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:85853400-85853800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr14:85853600-85854000	Enhancers	Fetal Heart	heart
3	chr14:85853600-85854000	Enhancers	HSMMtube	muscle
4	chr14:85855800-85856000	Flanking Active TSS	Fetal Lung	lung
5	chr14:85856000-85858200	Enhancers	Fetal Lung	lung
6	chr14:85858200-85859000	Weak transcription	Fetal Lung	lung
7	chr14:85858400-85858800	Enhancers	Dnd41	blood
8	chr14:85859000-85859200	Enhancers	Fetal Lung	lung
9	chr14:85859200-85859600	Weak transcription	Fetal Lung	lung
10	chr14:85859600-85860000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:85859600-85860400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr14:85859600-85860400	Enhancers	Fetal Lung	lung
13	chr14:85859600-85860600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:85860200-85860600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:85860400-85862400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr14:85860400-85865400	Weak transcription	Fetal Lung	lung
17	chr14:85862400-85862800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr14:85862600-85863000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr14:85862600-85863400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr14:85862800-85863400	Enhancers	Fetal Muscle Leg	muscle
21	chr14:85863000-85863400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr14:85863000-85864000	Enhancers	Fetal Heart	heart
23	chr14:85863400-85865000	Weak transcription	Fetal Muscle Leg	muscle
24	chr14:85863600-85863800	Enhancers	HSMMtube	muscle
25	chr14:85863800-85865400	Weak transcription	HSMMtube	muscle
26	chr14:85864000-85865600	Weak transcription	Fetal Heart	heart
27	chr14:85864400-85864600	Enhancers	HSMM	muscle
28	chr14:85864600-85865400	Weak transcription	HSMM	muscle
29	chr14:85865000-85868600	Enhancers	Fetal Muscle Leg	muscle
30	chr14:85865200-85865800	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr14:85865200-85865800	Enhancers	Aorta	Aorta
32	chr14:85865200-85866200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr14:85865400-85865600	Enhancers	HSMM	muscle
34	chr14:85865400-85865800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr14:85865400-85865800	Enhancers	Placenta Amnion	Placenta Amnion
36	chr14:85865400-85866200	Enhancers	Fetal Lung	lung
37	chr14:85865400-85867400	Enhancers	HSMMtube	muscle
38	chr14:85865600-85865800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr14:85865600-85865800	Enhancers	Right Atrium	heart
40	chr14:85865600-85866000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr14:85865600-85866000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr14:85865600-85866000	Enhancers	NHEK	skin
43	chr14:85865600-85866200	Enhancers	Ovary	ovary
44	chr14:85865600-85866400	Enhancers	Fetal Heart	heart
45	chr14:85865800-85871000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr14:85866000-85867600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr14:85866200-85867400	Weak transcription	Ovary	ovary
48	chr14:85866200-85867600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr14:85866200-85867600	Weak transcription	Fetal Lung	lung
50	chr14:85866400-85867600	Weak transcription	Fetal Heart	heart

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