Variant report

Variant	nsv976348
Chromosome Location	chr14:67223967-67229009
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:77)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:77 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:67224984-67225061	HepG2	liver:	n/a	n/a
2	CTCF	chr14:67225000-67225150	SAEC	small airway:	n/a	n/a
3	CTCF	chr14:67225020-67225170	BE2_C	brain:	n/a	n/a
4	CTCF	chr14:67224866-67225391	MCF-7	breast:	n/a	n/a
5	CTCF	chr14:67225095-67225193	HepG2	liver:	n/a	n/a
6	CTCF	chr14:67225020-67225170	MCF-7	breast:	n/a	n/a
7	CTCF	chr14:67225060-67225210	HEK293	kidney:	n/a	n/a
8	CTCF	chr14:67225000-67225150	Caco-2	colon:	n/a	n/a
9	CTCF	chr14:67225000-67225150	HCFaa	heart:	n/a	n/a
10	CTCF	chr14:67225105-67225217	ProgFib	skin:	n/a	n/a
11	CTCF	chr14:67224894-67225240	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr14:67224992-67225265	MCF-7	breast:	n/a	n/a
13	CTCF	chr14:67225040-67225190	SK-N-SH_RA	brain:	n/a	n/a
14	CTCF	chr14:67225148-67225207	A549	lung:	n/a	n/a
15	CTCF	chr14:67224925-67225338	MCF-7	breast:	n/a	n/a
16	CTCF	chr14:67225080-67225230	NHEK	skin:	n/a	n/a
17	CTCF	chr14:67225000-67225150	RPTEC	kidney:	n/a	n/a
18	CTCF	chr14:67225080-67225230	HUVEC	blood vessel:	n/a	n/a
19	CTCF	chr14:67225080-67225230	HepG2	liver:	n/a	n/a
20	CTCF	chr14:67225040-67225190	MCF-7	breast:	n/a	n/a
21	CTCF	chr14:67225080-67225230	HCM	heart:	n/a	n/a
22	CTCF	chr14:67225140-67225290	HVMF	connective:	n/a	n/a
23	CTCF	chr14:67225040-67225190	HMF	breast:	n/a	n/a
24	CTCF	chr14:67225040-67225190	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr14:67225056-67225226	K562	blood:	n/a	n/a
26	CTCF	chr14:67224999-67225257	GM12878	blood:	n/a	n/a
27	CTCF	chr14:67225020-67225170	HMF	breast:	n/a	n/a
28	CTCF	chr14:67224165-67224240	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr14:67225060-67225210	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr14:67225220-67225370	GM12872	blood:	n/a	n/a
31	CTCF	chr14:67225080-67225230	HPAF	blood vessel:	n/a	n/a
32	CTCF	chr14:67225020-67225170	Caco-2	colon:	n/a	n/a
33	CTCF	chr14:67225075-67225187	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr14:67225040-67225190	HRPEpiC	eye:	n/a	n/a
35	CTCF	chr14:67224980-67225130	HepG2	liver:	n/a	n/a
36	CTCF	chr14:67225100-67225250	HPAF	blood vessel:	n/a	n/a
37	CTCF	chr14:67225078-67225079	Medullo	brain:	n/a	n/a
38	CTCF	chr14:67225060-67225210	BE2_C	brain:	n/a	n/a
39	CTCF	chr14:67225010-67225181	HepG2	liver:	n/a	n/a
40	CTCF	chr14:67225084-67225134	Medullo	brain:	n/a	n/a
41	CTCF	chr14:67225060-67225210	AG04450	lung:	n/a	n/a
42	CTCF	chr14:67225100-67225250	HFF-Myc	foreskin:	n/a	n/a
43	CTCF	chr14:67224980-67225130	RPTEC	kidney:	n/a	n/a
44	CTCF	chr14:67225040-67225190	A549	lung:	n/a	n/a
45	CTCF	chr14:67225040-67225190	HMEC	breast:	n/a	n/a
46	CTCF	chr14:67225080-67225230	HRE	kidney:	n/a	n/a
47	CTCF	chr14:67225000-67225150	WERI-Rb-1	eye:	n/a	n/a
48	CTCF	chr14:67225200-67225350	RPTEC	kidney:	n/a	n/a
49	CTCF	chr14:67225017-67225228	MCF-7	breast:	n/a	n/a
50	CTCF	chr14:67225080-67225230	HBMEC	blood vessel:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM71D-3	chr14:67227250-67227736	NONHSAT037427

No data

Variant related genes	Relation type
ENSG00000258796	TF binding region

Extended variants
information (count: 198 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:198 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556837436	chr14:67223977-67223978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs367671929	chr14:67224046-67224047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112499903	chr14:67224059-67224060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368387243	chr14:67224064-67224065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371221720	chr14:67224067-67224068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144035989	chr14:67224071-67224072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377376731	chr14:67224074-67224075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs56021330	chr14:67224076-67224077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375509215	chr14:67224077-67224078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576681432	chr14:67224120-67224121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539261364	chr14:67224131-67224132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111531123	chr14:67224137-67224138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572876680	chr14:67224211-67224212	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs541890461	chr14:67224225-67224226	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs191605486	chr14:67224253-67224254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575307037	chr14:67224254-67224255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375414492	chr14:67224278-67224279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544180156	chr14:67224281-67224282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs137904391	chr14:67224289-67224290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543582602	chr14:67224339-67224340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552826017	chr14:67224344-67224345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559875631	chr14:67224426-67224427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528613672	chr14:67224453-67224454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76957791	chr14:67224521-67224522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200698420	chr14:67224566-67224567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114757353	chr14:67224626-67224627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142333342	chr14:67224670-67224671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144853760	chr14:67224674-67224675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148590993	chr14:67224677-67224678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370397061	chr14:67224713-67224714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183698272	chr14:67224716-67224717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141982603	chr14:67224748-67224749	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs566647950	chr14:67224770-67224771	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs542048953	chr14:67224785-67224786	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs563368454	chr14:67224798-67224799	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs150670020	chr14:67224825-67224826	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs111562189	chr14:67224857-67224858	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs113259982	chr14:67224907-67224908	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs144772568	chr14:67224925-67224926	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs147900907	chr14:67224926-67224927	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs188908722	chr14:67224933-67224934	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs139909238	chr14:67224993-67224994	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs34423996	chr14:67225011-67225012	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs193266722	chr14:67225015-67225016	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs145338835	chr14:67225030-67225031	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs542012197	chr14:67225040-67225041	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs374843571	chr14:67225057-67225058	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs555489788	chr14:67225072-67225073	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs530881436	chr14:67225075-67225076	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs550585731	chr14:67225108-67225109	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Acute myeloid leukemia	21251322	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Autism	22495309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67214000-67224600	Weak transcription	Liver	Liver
2	chr14:67217800-67224600	Weak transcription	Pancreas	Pancrea
3	chr14:67224400-67225600	Enhancers	HepG2	liver
4	chr14:67224600-67225400	Enhancers	Liver	Liver
5	chr14:67224600-67225400	Enhancers	Duodenum Mucosa	Duodenum
6	chr14:67224600-67225400	Enhancers	Pancreas	Pancrea
7	chr14:67225200-67226400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr14:67225200-67226600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr14:67225400-67256400	Weak transcription	Pancreas	Pancrea

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