Variant report

Variant	nsv960658
Chromosome Location	chr18:14362871-14430233
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	BATF	chr18:14393965-14394283	GM12878	blood:	n/a	n/a
2	BATF	chr18:14415854-14416095	GM12878	blood:	n/a	n/a
3	BATF	chr18:14394058-14394258	GM12878	blood:	n/a	n/a
4	BHLHE40	chr18:14376675-14376891	GM12878	blood:	n/a	n/a
5	CEBPB	chr18:14368068-14368121	H1-hESC	embryonic stem cell:	n/a	chr18:14368098-14368109
6	CEBPB	chr18:14367918-14368281	IMR90	lung:	n/a	chr18:14368098-14368109
7	CEBPB	chr18:14413311-14413618	HepG2	liver:	n/a	chr18:14413440-14413449 chr18:14413440-14413451 chr18:14413438-14413451 chr18:14413438-14413449 chr18:14413440-14413449 chr18:14413440-14413449 chr18:14413440-14413449
8	CEBPB	chr18:14367925-14368270	A549	lung:	n/a	chr18:14368098-14368109
9	CEBPB	chr18:14367920-14368287	HepG2	liver:	n/a	chr18:14368098-14368109
10	CTCF	chr18:14371747-14371811	Kidney_OC	kidney:	n/a	n/a
11	CTCF	chr18:14415840-14415990	GM12866	blood:	n/a	n/a
12	CTCF	chr18:14416080-14416230	A549	lung:	n/a	n/a
13	CTCF	chr18:14395600-14395750	GM12867	blood:	n/a	chr18:14395708-14395729 chr18:14395713-14395731
14	CTCF	chr18:14416320-14416470	AG09319	gingival:	n/a	n/a
15	CTCF	chr18:14415820-14415970	GM12874	blood:	n/a	n/a
16	CTCF	chr18:14415840-14415990	GM12872	blood:	n/a	n/a
17	CTCF	chr18:14416100-14416250	A549	lung:	n/a	n/a
18	CTCF	chr18:14420093-14420120	Spleen_OC	spleen:	n/a	n/a
19	CTCF	chr18:14395600-14395750	GM12875	blood:	n/a	chr18:14395708-14395729 chr18:14395713-14395731
20	CTCF	chr18:14415859-14416086	SK-N-SH_RA	brain:	n/a	chr18:14415981-14415997 chr18:14415980-14415998 chr18:14415982-14415995
21	CTCF	chr18:14395580-14395730	HCPEpiC	choroid plexus:	n/a	chr18:14395708-14395729
22	CTCF	chr18:14395600-14395750	GM12878	blood:	n/a	chr18:14395708-14395729 chr18:14395713-14395731
23	CTCF	chr18:14415820-14415970	HCT-116	colon:	n/a	n/a
24	CTCF	chr18:14415820-14415970	AG09309	skin:	n/a	n/a
25	CTCF	chr18:14415820-14415970	RPTEC	kidney:	n/a	n/a
26	CTCF	chr18:14420710-14420785	GM13976	blood:	n/a	n/a
27	CTCF	chr18:14395541-14395915	GM12878	blood:	n/a	chr18:14395708-14395729 chr18:14395713-14395731
28	CTCF	chr18:14415820-14415970	AG09319	gingival:	n/a	n/a
29	CTCF	chr18:14415859-14416150	GM12878	blood:	n/a	chr18:14415981-14415997 chr18:14415980-14415998 chr18:14415982-14415995
30	CTCF	chr18:14395651-14395894	Lung_OC	lung:	n/a	chr18:14395708-14395729 chr18:14395713-14395731
31	CTCF	chr18:14395580-14395730	HRE	kidney:	n/a	chr18:14395708-14395729
32	CTCF	chr18:14415820-14415970	HL-60	blood:	n/a	n/a
33	CTCF	chr18:14395626-14395841	LNCaP	prostate:	n/a	chr18:14395708-14395729 chr18:14395713-14395731
34	CTCF	chr18:14395660-14395810	HRE	kidney:	n/a	chr18:14395708-14395729 chr18:14395713-14395731
35	CTCF	chr18:14395582-14395586	Spleen_OC	spleen:	n/a	n/a
36	CTCF	chr18:14395669-14395760	HepG2	liver:	n/a	chr18:14395708-14395729 chr18:14395713-14395731
37	CTCF	chr18:14395651-14395816	GM10248	blood:	n/a	chr18:14395708-14395729 chr18:14395713-14395731
38	CTCF	chr18:14416080-14416230	NHLF	lung:	n/a	n/a
39	CTCF	chr18:14415840-14415990	GM12864	blood:	n/a	n/a
40	CTCF	chr18:14415850-14416090	K562	blood:	n/a	chr18:14415981-14415997 chr18:14415980-14415998 chr18:14415982-14415995
41	CTCF	chr18:14415820-14415970	GM12878	blood:	n/a	n/a
42	CTCF	chr18:14415820-14415970	HRE	kidney:	n/a	n/a
43	CTCF	chr18:14395619-14395828	LNCaP	prostate:	n/a	chr18:14395708-14395729 chr18:14395713-14395731
44	CTCF	chr18:14415820-14415970	HMF	breast:	n/a	n/a
45	CTCF	chr18:14396294-14396347	GM10248	blood:	n/a	n/a
46	CTCF	chr18:14415751-14416075	K562	blood:	n/a	chr18:14415981-14415997 chr18:14415980-14415998 chr18:14415982-14415995
47	CTCF	chr18:14416873-14416900	Spleen_OC	spleen:	n/a	n/a
48	CTCF	chr18:14416060-14416210	GM12868	blood:	n/a	n/a
49	CTCF	chr18:14415830-14416113	GM19238	blood:	n/a	chr18:14415981-14415997 chr18:14415980-14415998 chr18:14415982-14415995
50	CTCF	chr18:14415862-14416107	MCF-7	breast:	n/a	chr18:14415981-14415997 chr18:14415980-14415998 chr18:14415982-14415995

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:14378826-14378876	PrEC	prostate:	n/a
2	chr18:14378826-14378876	PrEC	prostate:	n/a
3	chr18:14427976-14428026	SKMC	muscle:	n/a
4	chr18:14378365-14378415	H1-hESC	embryonic stem cell:	embryo
5	chr18:14378826-14378876	HRPEpiC	eye:	n/a
6	chr18:14378524-14378574	HCM	heart:	n/a
7	chr18:14396583-14396633	AG04449	skin:	fetal
8	chr18:14427976-14428026	HRPEpiC	eye:	n/a
9	chr18:14378826-14378876	A549	lung:	n/a
10	chr18:14393507-14393557	AG04449	skin:	fetal
11	chr18:14396583-14396633	HRPEpiC	eye:	n/a
12	chr18:14393507-14393557	AG09309	skin:	n/a
13	chr18:14393507-14393557	ovcar-3	ovarian:	n/a
14	chr18:14396583-14396633	HRCEpiC	kidney:	n/a
15	chr18:14389925-14389975	HRPEpiC	eye:	n/a
16	chr18:14378524-14378574	NH-A	brain:	n/a
17	chr18:14378826-14378876	SAEC	small airway:	n/a
18	chr18:14427976-14428026	HIPEpiC	eye:	n/a
19	chr18:14378365-14378415	LNCaP	prostate:	n/a
20	chr18:14396583-14396633	SK-N-MC	brain:	n/a
21	chr18:14427976-14428026	SK-N-SH_RA	brain:	n/a
22	chr18:14393507-14393557	H1-hESC	embryonic stem cell:	embryo
23	chr18:14378365-14378415	SKMC	muscle:	n/a
24	chr18:14393997-14394047	HNPCEpiC	eye:	n/a
25	chr18:14393507-14393557	GM19239	blood:	n/a
26	chr18:14378826-14378876	NHBE	bronchial:	n/a
27	chr18:14389925-14389975	U87	brain:	n/a
28	chr18:14378524-14378574	U87	brain:	n/a
29	chr18:14396583-14396633	BJ	skin:	n/a
30	chr18:14378826-14378876	HPAEpiC	pulmonary alveolar:	n/a
31	chr18:14378826-14378876	AG09319	gingival:	n/a
32	chr18:14393507-14393557	NT2-D1	testis:	n/a
33	chr18:14378524-14378574	PrEC	prostate:	n/a
34	chr18:14396583-14396633	Hepatocyte	liver:	n/a
35	chr18:14393507-14393557	MCF-7	breast:	n/a
36	chr18:14378365-14378415	PFSK-1	brain:	n/a
37	chr18:14392503-14392553	A549	lung:	n/a
38	chr18:14392503-14392553	HCT-116	colon:	n/a
39	chr18:14393244-14393294	HUVEC	blood vessel:	n/a
40	chr18:14389925-14389975	GM19239	blood:	n/a
41	chr18:14378365-14378415	AG09319	gingival:	n/a
42	chr18:14389925-14389975	BJ	skin:	n/a
43	chr18:14393997-14394047	AG04449	skin:	fetal
44	chr18:14427976-14428026	H1-hESC	embryonic stem cell:	embryo
45	chr18:14378365-14378415	CMK	blood:	n/a
46	chr18:14378524-14378574	HPAEpiC	pulmonary alveolar:	n/a
47	chr18:14378826-14378876	HAEpiC	amniotic membrane:	n/a
48	chr18:14392503-14392553	HRCEpiC	kidney:	n/a
49	chr18:14392503-14392553	NHBE	bronchial:	n/a
50	chr18:14427976-14428026	HCM	heart:	n/a

Variant related genes	Relation type
TERF1P2	TF binding region
FEM1AP2	TF binding region
ENSG00000265437	TF binding region
TERF1P2	CpG island
FEM1AP2	CpG island
ENSG00000265437	CpG island

Extended variants
information (count: 688 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:688 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561416730	chr18:14364199-14364200	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs536960814	chr18:14364235-14364236	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs538029654	chr18:14364237-14364238	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs548854892	chr18:14378672-14378673	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs568619127	chr18:14378696-14378697	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs544841121	chr18:14378697-14378698	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs368042836	chr18:14378700-14378701	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs148140257	chr18:14378727-14378728	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs555711516	chr18:14378730-14378731	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs564027182	chr18:14378734-14378735	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs191863205	chr18:14378745-14378746	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs56037588	chr18:14378752-14378753	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs530863671	chr18:14378754-14378755	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs183252442	chr18:14378755-14378756	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs558393866	chr18:14378772-14378773	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs375081220	chr18:14378807-14378808	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs572200902	chr18:14378822-14378823	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs540907173	chr18:14378824-14378825	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs554754797	chr18:14378869-14378870	Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs574758040	chr18:14378903-14378904	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs543758536	chr18:14378916-14378917	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs549111728	chr18:14378943-14378944	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs567308106	chr18:14378953-14378954	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs150274640	chr18:14378964-14378965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563660051	chr18:14378979-14378980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2942462	chr18:14378981-14378982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187943337	chr18:14379022-14379023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112027289	chr18:14379025-14379026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559633339	chr18:14379100-14379101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546997102	chr18:14379122-14379123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548446127	chr18:14379127-14379128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571816288	chr18:14379193-14379194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568659491	chr18:14379197-14379198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531076036	chr18:14379214-14379215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192417397	chr18:14379247-14379248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183298893	chr18:14379254-14379255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549318352	chr18:14379256-14379257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538292022	chr18:14379264-14379265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372760843	chr18:14379289-14379290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs4095532	chr18:14379327-14379328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534739697	chr18:14379371-14379372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554436795	chr18:14379479-14379480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186924051	chr18:14379497-14379498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs61009649	chr18:14379536-14379537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192274224	chr18:14379542-14379543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569520096	chr18:14379558-14379559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs113971857	chr18:14379571-14379572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs55634096	chr18:14379575-14379576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs56125531	chr18:14379578-14379579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs4095533	chr18:14379616-14379617	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14378800-14379800	Enhancers	Dnd41	blood
2	chr18:14415400-14415600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr18:14415400-14415800	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr18:14415600-14415800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr18:14415600-14415800	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr18:14415600-14416000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr18:14415600-14416000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr18:14415600-14416000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr18:14415600-14416000	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr18:14415600-14416000	Active TSS	Stomach Smooth Muscle	stomach
11	chr18:14415600-14416000	Active TSS	Osteobl	bone
12	chr18:14415800-14416000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr18:14416000-14430400	Weak transcription	Osteobl	bone
14	chr18:14427200-14429800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr18:14429800-14431800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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