Variant report

Variant	nsv974447
Chromosome Location	chr14:22260663-22267332
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	CTCF	chr14:22265220-22265370	HBMEC	blood vessel:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
2	CTCF	chr14:22265168-22265335	K562	blood:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
3	CTCF	chr14:22265160-22265310	GM12864	blood:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
4	CTCF	chr14:22265220-22265370	HMEC	breast:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
5	CTCF	chr14:22265064-22265458	H1-hESC	embryonic stem cell:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
6	CTCF	chr14:22265180-22265330	HAc	cerebellar:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
7	CTCF	chr14:22265200-22265350	HEK293	kidney:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
8	CTCF	chr14:22265180-22265330	SAEC	small airway:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
9	CTCF	chr14:22265140-22265290	HEK293	kidney:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
10	CTCF	chr14:22265260-22265410	HRPEpiC	eye:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
11	CTCF	chr14:22265220-22265370	SAEC	small airway:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
12	CTCF	chr14:22265220-22265370	HRE	kidney:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
13	CTCF	chr14:22265160-22265310	HMEC	breast:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
14	CTCF	chr14:22265240-22265390	GM12872	blood:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
15	CTCF	chr14:22265217-22265319	MCF-7	breast:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
16	CTCF	chr14:22265260-22265410	Caco-2	colon:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
17	CTCF	chr14:22265140-22265290	A549	lung:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
18	CTCF	chr14:22265200-22265350	GM12866	blood:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
19	CTCF	chr14:22265076-22265457	MCF-7	breast:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
20	CTCF	chr14:22265200-22265350	HMF	breast:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
21	CTCF	chr14:22265180-22265330	HCPEpiC	choroid plexus:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
22	CTCF	chr14:22265180-22265330	Hela-S3	cervix:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
23	CTCF	chr14:22265220-22265370	MCF-7	breast:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
24	CTCF	chr14:22265220-22265370	GM12871	blood:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
25	CTCF	chr14:22265248-22265308	Gliobla	brain:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
26	CTCF	chr14:22265098-22265454	H1-hESC	embryonic stem cell:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
27	CTCF	chr14:22265164-22265372	MCF-7	breast:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
28	CTCF	chr14:22265221-22265301	K562	blood:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
29	CTCF	chr14:22265160-22265310	HCPEpiC	choroid plexus:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
30	CTCF	chr14:22265219-22265302	GM19239	blood:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
31	CTCF	chr14:22265220-22265370	HepG2	liver:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
32	CTCF	chr14:22265220-22265370	HPAF	blood vessel:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
33	CTCF	chr14:22261700-22261850	NHLF	lung:	n/a	n/a
34	CTCF	chr14:22265189-22265357	MCF-7	breast:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
35	CTCF	chr14:22265200-22265350	MCF-7	breast:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
36	CTCF	chr14:22265201-22265336	A549	lung:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
37	CTCF	chr14:22265200-22265350	GM12868	blood:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
38	CTCF	chr14:22265184-22265375	NHEK	skin:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
39	CTCF	chr14:22265300-22265450	HMF	breast:	n/a	n/a
40	CTCF	chr14:22265120-22265270	NHEK	skin:	n/a	n/a
41	CTCF	chr14:22265168-22265365	H1-hESC	embryonic stem cell:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
42	CTCF	chr14:22265120-22265270	HEEpiC	esophagus:	n/a	n/a
43	CTCF	chr14:22265181-22265364	MCF-7	breast:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
44	CTCF	chr14:22265200-22265350	GM12864	blood:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
45	CTCF	chr14:22265180-22265330	GM12872	blood:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
46	CTCF	chr14:22265320-22265470	NHEK	skin:	n/a	n/a
47	CTCF	chr14:22265215-22265324	HepG2	liver:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
48	CTCF	chr14:22265180-22265330	GM12864	blood:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
49	CTCF	chr14:22265220-22265370	RPTEC	kidney:	n/a	chr14:22265262-22265283 chr14:22265260-22265278
50	CTCF	chr14:22265172-22265358	LNCaP	prostate:	n/a	chr14:22265262-22265283 chr14:22265260-22265278

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:22265369-22265419	NB4	blood:	n/a
2	chr14:22265369-22265419	ECC-1	luminal epithelium:	n/a
3	chr14:22265369-22265419	GM06990	blood:	n/a
4	chr14:22265369-22265419	HNPCEpiC	eye:	n/a
5	chr14:22265369-22265419	BJ	skin:	n/a
6	chr14:22265369-22265419	K562	blood:	n/a
7	chr14:22265369-22265419	NT2-D1	testis:	n/a
8	chr14:22265369-22265419	T-47D	breast:	n/a
9	chr14:22265369-22265419	HEK293	kidney:	embryo
10	chr14:22265369-22265419	IMR90	lung:	fetal
11	chr14:22265369-22265419	H1-hESC	embryonic stem cell:	embryo
12	chr14:22265369-22265419	HAEpiC	amniotic membrane:	n/a
13	chr14:22265369-22265419	HCM	heart:	n/a
14	chr14:22265369-22265419	HCF	heart:	n/a
15	chr14:22265369-22265419	HRPEpiC	eye:	n/a
16	chr14:22265369-22265419	Hepatocyte	liver:	n/a
17	chr14:22265369-22265419	Hela-S3	cervix:	n/a
18	chr14:22265369-22265419	NHDF-neo	bronchial:	n/a
19	chr14:22265369-22265419	SK-N-MC	brain:	n/a
20	chr14:22265369-22265419	U87	brain:	n/a
21	chr14:22265369-22265419	LNCaP	prostate:	n/a
22	chr14:22265369-22265419	ovcar-3	ovarian:	n/a
23	chr14:22265369-22265419	GM12878	blood:	n/a
24	chr14:22265369-22265419	ProgFib	skin:	n/a
25	chr14:22265369-22265419	PANC-1	pancreas:	n/a
26	chr14:22265369-22265419	BE2_C	brain:	n/a
27	chr14:22265369-22265419	HEEpiC	esophagus:	n/a
28	chr14:22265369-22265419	Jurkat	blood:	n/a
29	chr14:22265369-22265419	GM12891	blood:	n/a
30	chr14:22265369-22265419	CMK	blood:	n/a
31	chr14:22265369-22265419	SAEC	small airway:	n/a
32	chr14:22265369-22265419	Caco-2	colon:	n/a
33	chr14:22265369-22265419	HL-60	blood:	n/a
34	chr14:22265369-22265419	NH-A	brain:	n/a
35	chr14:22265369-22265419	AoSMC	blood vessel:	n/a
36	chr14:22265369-22265419	A549	lung:	n/a
37	chr14:22265369-22265419	PrEC	prostate:	n/a
38	chr14:22265369-22265419	MCF-7	breast:	n/a
39	chr14:22265369-22265419	AG09319	gingival:	n/a
40	chr14:22265369-22265419	MCF10A-Er-Src	breast:	n/a
41	chr14:22265369-22265419	HIPEpiC	eye:	n/a
42	chr14:22265369-22265419	SK-N-SH	brain:	n/a
43	chr14:22265369-22265419	PFSK-1	brain:	n/a
44	chr14:22265369-22265419	AG09309	skin:	n/a
45	chr14:22265369-22265419	HPAEpiC	pulmonary alveolar:	n/a
46	chr14:22265369-22265419	SK-N-SH_RA	brain:	n/a
47	chr14:22265369-22265419	AG10803	skin:	n/a
48	chr14:22265369-22265419	AG04449	skin:	fetal
49	chr14:22265369-22265419	RPTEC	kidney:	n/a
50	chr14:22265369-22265419	HepG2	liver:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:22264815..22265316-chr14:22293406..22294027,2	MCF-7	breast:
2	chr14:22256716..22259521-chr14:22263376..22264997,2	MCF-7	breast:

Variant related genes	Relation type
TRAV8-1	TF binding region
TRAV8-1	CpG island
ENSG00000211784	chromatin interactions

Extended variants
information (count: 179 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:179 , 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	rs545010100	chr14:22261618-22261619	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs564756025	chr14:22261632-22261633	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs530818497	chr14:22261673-22261674	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs80216932	chr14:22261693-22261694	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs144163720	chr14:22261695-22261696	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs8005936	chr14:22261724-22261725	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs182636496	chr14:22261726-22261727	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs2874143	chr14:22261739-22261740	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs569210408	chr14:22261754-22261755	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs556789502	chr14:22261758-22261759	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs186659223	chr14:22261785-22261786	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs538786786	chr14:22261809-22261810	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs578093419	chr14:22261826-22261827	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs545584001	chr14:22261849-22261850	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs558898523	chr14:22261853-22261854	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs371494756	chr14:22261857-22261858	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs375854841	chr14:22261863-22261864	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs569199305	chr14:22261916-22261917	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs529607712	chr14:22261973-22261974	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs550965284	chr14:22261991-22261992	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs548158621	chr14:22263200-22263201	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs76857743	chr14:22263317-22263318	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs74895313	chr14:22263328-22263329	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs187888635	chr14:22263355-22263356	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs146216865	chr14:22263427-22263428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs33989906	chr14:22263465-22263466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs397774431	chr14:22263471-22263472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs193065108	chr14:22263487-22263488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs7155064	chr14:22263534-22263535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574936331	chr14:22263658-22263659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185355120	chr14:22263700-22263701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558592203	chr14:22263739-22263740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575226068	chr14:22263749-22263750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78721424	chr14:22263758-22263759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554593722	chr14:22263796-22263797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538551024	chr14:22263798-22263799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs12434548	chr14:22263821-22263822	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs144948044	chr14:22263827-22263828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560199900	chr14:22263844-22263845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189810139	chr14:22263860-22263861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs138869293	chr14:22263866-22263867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12897844	chr14:22263930-22263931	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs538201112	chr14:22263935-22263936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562732964	chr14:22263957-22263958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531678436	chr14:22263978-22263979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs149387340	chr14:22263979-22263980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs116960842	chr14:22263982-22263983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561743440	chr14:22264046-22264047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557604501	chr14:22264145-22264146	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs34888533	chr14:22264160-22264161	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Cone-rod dystrophy	18421352	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	21482944	CNVD
Mental retardation	19951919	CNVD
Neuroblastoma	21899760	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Esophageal cancer	20955586	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:22261600-22262000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
2	chr14:22263200-22263400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
3	chr14:22263400-22265200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr14:22265000-22265400	Active TSS	Thymus	Thymus
5	chr14:22265200-22265600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
6	chr14:22265400-22265800	Enhancers	Brain Anterior Caudate	brain
7	chr14:22265400-22265800	Flanking Active TSS	Thymus	Thymus
8	chr14:22265400-22266000	Active TSS	Primary T cells fromperipheralblood	blood
9	chr14:22265400-22266000	Enhancers	Fetal Thymus	thymus
10	chr14:22265600-22266000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr14:22265800-22267600	Active TSS	Thymus	Thymus

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