Variant report

Variant	nsv901653
Chromosome Location	chr14:38711065-38741976
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:335)
CpG islands
(count:856)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:335 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr14:38724903-38725003	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr14:38724550-38724659	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr14:38713064-38713362	Hela-S3	cervix:	n/a	chr14:38713219-38713230
4	CEBPB	chr14:38726753-38727143	Hela-S3	cervix:	n/a	chr14:38726951-38726964
5	CEBPB	chr14:38713058-38713376	IMR90	lung:	n/a	chr14:38713219-38713230
6	CEBPB	chr14:38725626-38725956	IMR90	lung:	n/a	chr14:38725812-38725823
7	CEBPB	chr14:38713066-38713373	HepG2	liver:	n/a	chr14:38713219-38713230
8	CEBPB	chr14:38721632-38721832	HepG2	liver:	n/a	n/a
9	CEBPB	chr14:38730845-38731204	Hela-S3	cervix:	n/a	chr14:38731020-38731031
10	CEBPB	chr14:38713192-38713257	A549	lung:	n/a	chr14:38713219-38713230
11	CEBPB	chr14:38725636-38725973	H1-hESC	embryonic stem cell:	n/a	chr14:38725812-38725823
12	CEBPB	chr14:38730845-38731197	HepG2	liver:	n/a	chr14:38731020-38731031
13	CEBPB	chr14:38725780-38725897	HepG2	liver:	n/a	chr14:38725812-38725823
14	CEBPB	chr14:38730891-38731169	A549	lung:	n/a	chr14:38731020-38731031
15	CEBPB	chr14:38726757-38727088	IMR90	lung:	n/a	chr14:38726951-38726964
16	CEBPB	chr14:38730876-38731203	IMR90	lung:	n/a	chr14:38731020-38731031
17	CHD1	chr14:38724531-38724590	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTBP2	chr14:38723721-38725562	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr14:38725060-38725210	HUVEC	blood vessel:	n/a	n/a
20	CTCF	chr14:38717826-38718269	MCF-7	breast:	n/a	n/a
21	CTCF	chr14:38717880-38718030	AG10803	skin:	n/a	n/a
22	CTCF	chr14:38717960-38718110	WI-38	lung:	n/a	n/a
23	CTCF	chr14:38717980-38718130	AG04449	skin:	n/a	n/a
24	CTCF	chr14:38717920-38718070	MCF-7	breast:	n/a	n/a
25	CTCF	chr14:38725800-38725950	HPAF	blood vessel:	n/a	chr14:38725842-38725851 chr14:38725842-38725855
26	CTCF	chr14:38717840-38717990	NHDF-neo	bronchial:	n/a	n/a
27	CTCF	chr14:38717960-38718110	HepG2	liver:	n/a	n/a
28	CTCF	chr14:38717960-38718110	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr14:38724900-38725050	HUVEC	blood vessel:	n/a	n/a
30	CTCF	chr14:38724720-38724870	AG04449	skin:	n/a	n/a
31	CTCF	chr14:38717921-38718153	HepG2	liver:	n/a	n/a
32	CTCF	chr14:38717940-38718090	BE2_C	brain:	n/a	n/a
33	CTCF	chr14:38717844-38718131	MCF-7	breast:	n/a	n/a
34	CTCF	chr14:38725817-38725878	HepG2	liver:	n/a	chr14:38725842-38725851 chr14:38725842-38725855
35	CTCF	chr14:38717900-38718050	HUVEC	blood vessel:	n/a	n/a
36	CTCF	chr14:38717969-38718108	MCF-7	breast:	n/a	n/a
37	CTCF	chr14:38717920-38718070	HFF	foreskin:	n/a	n/a
38	CTCF	chr14:38725780-38725930	HUVEC	blood vessel:	n/a	chr14:38725842-38725851 chr14:38725842-38725855
39	CTCF	chr14:38717939-38718114	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr14:38717940-38718090	HAc	cerebellar:	n/a	n/a
41	CTCF	chr14:38725780-38725930	AG09309	skin:	n/a	chr14:38725842-38725851 chr14:38725842-38725855
42	CTCF	chr14:38717900-38718050	AG09319	gingival:	n/a	n/a
43	CTCF	chr14:38718040-38718190	A549	lung:	n/a	n/a
44	CTCF	chr14:38717972-38718074	MCF-7	breast:	n/a	n/a
45	CTCF	chr14:38725800-38725950	MCF-7	breast:	n/a	chr14:38725842-38725851 chr14:38725842-38725855
46	CTCF	chr14:38717920-38718070	HFF-Myc	foreskin:	n/a	n/a
47	CTCF	chr14:38717960-38718110	HVMF	connective:	n/a	n/a
48	CTCF	chr14:38717920-38718070	HCPEpiC	choroid plexus:	n/a	n/a
49	CTCF	chr14:38717960-38718110	AG04449	skin:	n/a	n/a
50	CTCF	chr14:38717976-38718060	Gliobla	brain:	n/a	n/a

(count:856 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:38728932-38728982	BJ	skin:	n/a
2	chr14:38726189-38726239	PANC-1	pancreas:	n/a
3	chr14:38728932-38728982	BJ	skin:	n/a
4	chr14:38726189-38726239	PANC-1	pancreas:	n/a
5	chr14:38724945-38724995	NHDF-neo	bronchial:	n/a
6	chr14:38725536-38725586	Hela-S3	cervix:	n/a
7	chr14:38723500-38723550	PrEC	prostate:	n/a
8	chr14:38724648-38724698	HUVEC	blood vessel:	n/a
9	chr14:38724675-38724725	AoSMC	blood vessel:	n/a
10	chr14:38725536-38725586	A549	lung:	n/a
11	chr14:38724945-38724995	H1-hESC	embryonic stem cell:	embryo
12	chr14:38725656-38725706	SAEC	small airway:	n/a
13	chr14:38723500-38723550	SK-N-MC	brain:	n/a
14	chr14:38726189-38726239	HRE	kidney:	n/a
15	chr14:38724255-38724305	GM19239	blood:	n/a
16	chr14:38728932-38728982	K562	blood:	n/a
17	chr14:38726189-38726239	HIPEpiC	eye:	n/a
18	chr14:38728932-38728982	A549	lung:	n/a
19	chr14:38728932-38728982	RPTEC	kidney:	n/a
20	chr14:38724945-38724995	NB4	blood:	n/a
21	chr14:38724945-38724995	BE2_C	brain:	n/a
22	chr14:38725710-38725760	HAEpiC	amniotic membrane:	n/a
23	chr14:38725536-38725586	MCF10A-Er-Src	breast:	n/a
24	chr14:38724945-38724995	U87	brain:	n/a
25	chr14:38725710-38725760	HEK293	kidney:	embryo
26	chr14:38723500-38723550	MCF10A-Er-Src	breast:	n/a
27	chr14:38724945-38724995	AG09319	gingival:	n/a
28	chr14:38728932-38728982	GM12892	blood:	n/a
29	chr14:38723500-38723550	GM12878	blood:	n/a
30	chr14:38724945-38724995	AG04450	lung:	fetal
31	chr14:38727014-38727064	AG04450	lung:	fetal
32	chr14:38728932-38728982	ProgFib	skin:	n/a
33	chr14:38724945-38724995	HAEpiC	amniotic membrane:	n/a
34	chr14:38724648-38724698	NHDF-neo	bronchial:	n/a
35	chr14:38725650-38725700	PrEC	prostate:	n/a
36	chr14:38723500-38723550	HNPCEpiC	eye:	n/a
37	chr14:38724675-38724725	MCF10A-Er-Src	breast:	n/a
38	chr14:38723500-38723550	H1-hESC	embryonic stem cell:	embryo
39	chr14:38724255-38724305	HRCEpiC	kidney:	n/a
40	chr14:38725750-38725800	SK-N-SH_RA	brain:	n/a
41	chr14:38726189-38726239	HMEC	breast:	n/a
42	chr14:38724648-38724698	SKMC	muscle:	n/a
43	chr14:38725750-38725800	T-47D	breast:	n/a
44	chr14:38725750-38725800	K562	blood:	n/a
45	chr14:38723500-38723550	AG09319	gingival:	n/a
46	chr14:38724648-38724698	SK-N-SH	brain:	n/a
47	chr14:38727014-38727064	GM06990	blood:	n/a
48	chr14:38724675-38724725	AG09309	skin:	n/a
49	chr14:38724648-38724698	T-47D	breast:	n/a
50	chr14:38727014-38727064	NHBE	bronchial:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:38741056..38743314-chr14:38745242..38747930,2	MCF-7	breast:

No data

Variant related genes	Relation type
CLEC14A	TF binding region
ENSG00000264234	TF binding region
CLEC14A	CpG island
ENSG00000264234	CpG island

Extended variants
information (count: 713 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:713 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17599240	chr14:38711065-38711066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546371519	chr14:38711144-38711145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186159740	chr14:38711187-38711188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528150588	chr14:38711235-38711236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190875432	chr14:38711270-38711271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561311181	chr14:38711271-38711272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548898636	chr14:38711319-38711320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183381801	chr14:38711320-38711321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186784052	chr14:38711321-38711322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192498341	chr14:38711349-38711350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183220970	chr14:38711367-38711368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188100720	chr14:38711388-38711389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535088241	chr14:38711396-38711397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555111900	chr14:38711406-38711407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574840621	chr14:38711429-38711430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537451568	chr14:38711449-38711450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537604954	chr14:38711528-38711529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192959826	chr14:38711606-38711607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546205590	chr14:38711607-38711608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1028930	chr14:38711614-38711615	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
21	rs150812985	chr14:38711622-38711623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200379188	chr14:38711650-38711651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35965007	chr14:38711672-38711673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561448637	chr14:38711725-38711726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530564339	chr14:38711767-38711768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550540242	chr14:38711779-38711780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563954365	chr14:38711811-38711812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533227019	chr14:38711841-38711842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535096289	chr14:38711844-38711845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138341041	chr14:38711888-38711889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566631062	chr14:38711912-38711913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535651139	chr14:38712009-38712010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2812103	chr14:38712025-38712026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184192780	chr14:38712038-38712039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568560530	chr14:38712048-38712049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537186553	chr14:38712119-38712120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557299132	chr14:38712153-38712154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577188082	chr14:38712188-38712189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372167253	chr14:38712213-38712214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553226116	chr14:38712216-38712217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574767761	chr14:38712262-38712263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553259996	chr14:38712326-38712327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573052415	chr14:38712351-38712352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75958499	chr14:38712386-38712387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188940948	chr14:38712483-38712484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371273413	chr14:38712505-38712506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574979492	chr14:38712534-38712535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368976553	chr14:38712548-38712549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77404504	chr14:38712626-38712627	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs541833638	chr14:38712651-38712652	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:344 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38708400-38716200	Weak transcription	HUVEC	blood vessel
2	chr14:38715000-38719000	Weak transcription	Lung	lung
3	chr14:38716200-38718400	Genic enhancers	HUVEC	blood vessel
4	chr14:38716400-38716800	Enhancers	Left Ventricle	heart
5	chr14:38716600-38716800	Enhancers	Pancreas	Pancrea
6	chr14:38716600-38716800	Enhancers	Right Atrium	heart
7	chr14:38716800-38719000	Weak transcription	Left Ventricle	heart
8	chr14:38717400-38726200	Active TSS	Right Atrium	heart
9	chr14:38718000-38718600	Enhancers	Adipose Nuclei	Adipose
10	chr14:38718400-38718600	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr14:38718400-38722000	Transcr. at gene 5' and 3'	HUVEC	blood vessel
12	chr14:38718600-38718800	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr14:38718600-38719000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr14:38718800-38719200	Active TSS	Right Ventricle	heart
15	chr14:38718800-38723800	Active TSS	Adipose Nuclei	Adipose
16	chr14:38719000-38719400	Active TSS	Lung	lung
17	chr14:38719000-38719600	Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr14:38719000-38720400	Active TSS	Left Ventricle	heart
19	chr14:38719200-38720000	Weak transcription	Right Ventricle	heart
20	chr14:38719200-38723800	Active TSS	Psoas Muscle	Psoas
21	chr14:38719400-38722400	Weak transcription	Lung	lung
22	chr14:38719600-38720000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr14:38719600-38720800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr14:38719800-38720000	Enhancers	Fetal Lung	lung
25	chr14:38720000-38723800	Active TSS	Right Ventricle	heart
26	chr14:38720000-38724400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr14:38720200-38721600	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr14:38720200-38721600	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr14:38720400-38721400	Weak transcription	Left Ventricle	heart
30	chr14:38720800-38722800	Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr14:38721000-38722000	Active TSS	Ovary	ovary
32	chr14:38721400-38723000	Active TSS	Left Ventricle	heart
33	chr14:38721400-38723600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr14:38721600-38722000	Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr14:38721600-38722600	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr14:38722000-38722600	Active TSS	HUVEC	blood vessel
37	chr14:38722000-38723200	Weak transcription	Ovary	ovary
38	chr14:38722400-38722800	Active TSS	Stomach Smooth Muscle	stomach
39	chr14:38722400-38723600	Active TSS	Fetal Stomach	stomach
40	chr14:38722400-38723800	Active TSS	Duodenum Mucosa	Duodenum
41	chr14:38722400-38724400	Active TSS	Lung	lung
42	chr14:38722400-38725400	Active TSS	NHLF	lung
43	chr14:38722600-38723400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr14:38722600-38723800	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr14:38722600-38724200	Transcr. at gene 5' and 3'	HUVEC	blood vessel
46	chr14:38722800-38723000	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr14:38722800-38723200	Flanking Bivalent TSS/Enh	Fetal Lung	lung
48	chr14:38722800-38723600	Active TSS	Fetal Muscle Leg	muscle
49	chr14:38722800-38723800	Active TSS	Brain Hippocampus Middle	brain
50	chr14:38722800-38724800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle

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