Variant report

Variant	nsv983947
Chromosome Location	chr14:22070911-22102238
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	ARID3A	chr14:22100505-22100805	HepG2	liver:	n/a	n/a
2	BACH1	chr14:22091049-22091050	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr14:22080421-22080820	GM12878	blood:	n/a	n/a
4	BATF	chr14:22080493-22080730	GM12878	blood:	n/a	n/a
5	BHLHE40	chr14:22080385-22080812	GM12878	blood:	n/a	chr14:22080447-22080460 chr14:22080443-22080464
6	CEBPB	chr14:22100462-22100825	HepG2	liver:	n/a	chr14:22100629-22100640
7	CEBPB	chr14:22080606-22080799	H1-hESC	embryonic stem cell:	n/a	chr14:22080639-22080650
8	CEBPB	chr14:22080468-22080701	HepG2	liver:	n/a	chr14:22080639-22080650
9	CEBPB	chr14:22100514-22100851	HepG2	liver:	n/a	chr14:22100629-22100640
10	CEBPB	chr14:22100525-22100771	HepG2	liver:	n/a	chr14:22100629-22100640
11	CEBPB	chr14:22100593-22100707	K562	blood:	n/a	chr14:22100629-22100640
12	CHD2	chr14:22080609-22080858	GM12878	blood:	n/a	n/a
13	CTCF	chr14:22080721-22080771	MCF-7	breast:	n/a	n/a
14	CTCF	chr14:22080579-22080842	H1-hESC	embryonic stem cell:	n/a	chr14:22080706-22080724 chr14:22080708-22080729
15	CTCF	chr14:22080671-22080758	HepG2	liver:	n/a	chr14:22080706-22080724 chr14:22080708-22080729
16	CTCF	chr14:22085718-22085823	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr14:22080571-22080890	MCF-7	breast:	n/a	chr14:22080706-22080724 chr14:22080708-22080729
18	CTCF	chr14:22085619-22085683	Fibrobl	skin:	n/a	n/a
19	CTCF	chr14:22080658-22080784	GM12878	blood:	n/a	chr14:22080706-22080724 chr14:22080708-22080729
20	CTCF	chr14:22093180-22093330	Caco-2	colon:	n/a	n/a
21	CTCF	chr14:22080660-22080810	Caco-2	colon:	n/a	chr14:22080706-22080724 chr14:22080708-22080729
22	CTCF	chr14:22080620-22080770	MCF-7	breast:	n/a	chr14:22080706-22080724 chr14:22080708-22080729
23	CTCF	chr14:22080680-22080830	HepG2	liver:	n/a	chr14:22080706-22080724 chr14:22080708-22080729
24	CTCF	chr14:22080654-22080782	MCF-7	breast:	n/a	chr14:22080706-22080724 chr14:22080708-22080729
25	CTCF	chr14:22080640-22080790	Caco-2	colon:	n/a	chr14:22080706-22080724 chr14:22080708-22080729
26	CTCF	chr14:22080710-22080770	GM12892	blood:	n/a	n/a
27	CTCF	chr14:22080731-22080758	A549	lung:	n/a	n/a
28	CTCF	chr14:22080660-22080810	MCF-7	breast:	n/a	chr14:22080706-22080724 chr14:22080708-22080729
29	CTCF	chr14:22080660-22080810	GM12872	blood:	n/a	chr14:22080706-22080724 chr14:22080708-22080729
30	CTCF	chr14:22080759-22080766	HepG2	liver:	n/a	n/a
31	CTCF	chr14:22080537-22080892	GM12878	blood:	n/a	chr14:22080706-22080724 chr14:22080708-22080729
32	CTCF	chr14:22080633-22080827	MCF-7	breast:	n/a	chr14:22080706-22080724 chr14:22080708-22080729
33	CTCF	chr14:22085330-22085394	GM13976	blood:	n/a	n/a
34	CTCF	chr14:22080597-22080801	HepG2	liver:	n/a	chr14:22080706-22080724 chr14:22080708-22080729
35	EBF1	chr14:22080621-22080826	GM12878	blood:	n/a	n/a
36	EBF1	chr14:22085639-22085792	GM12878	blood:	n/a	chr14:22085740-22085751
37	EBF1	chr14:22085642-22085882	GM12878	blood:	n/a	chr14:22085740-22085751
38	EBF1	chr14:22080566-22080834	GM12878	blood:	n/a	n/a
39	EP300	chr14:22100479-22100836	HepG2	liver:	n/a	n/a
40	EP300	chr14:22080611-22080837	GM12878	blood:	n/a	chr14:22080640-22080654
41	EP300	chr14:22080481-22080875	GM12878	blood:	n/a	chr14:22080640-22080654
42	EP300	chr14:22080547-22080766	GM12878	blood:	n/a	chr14:22080640-22080654
43	FOS	chr14:22094778-22094951	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr14:22094849-22094971	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr14:22094807-22094971	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr14:22094756-22094967	MCF10A-Er-Src	breast:	n/a	n/a
47	FOSL2	chr14:22099153-22099710	MCF-7	breast:	n/a	chr14:22099461-22099472
48	FOXA1	chr14:22099209-22099558	T-47D	breast:	n/a	n/a
49	FOXA1	chr14:22099203-22099680	T-47D	breast:	n/a	n/a
50	FOXA1	chr14:22099250-22099608	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:22089641-22089691	PFSK-1	brain:	n/a
2	chr14:22089641-22089691	AG04450	lung:	fetal
3	chr14:22090709-22090759	IMR90	lung:	fetal
4	chr14:22089641-22089691	BJ	skin:	n/a
5	chr14:22090709-22090759	A549	lung:	n/a
6	chr14:22089641-22089691	ProgFib	skin:	n/a
7	chr14:22090709-22090759	ECC-1	luminal epithelium:	n/a
8	chr14:22090709-22090759	RPTEC	kidney:	n/a
9	chr14:22090709-22090759	BE2_C	brain:	n/a
10	chr14:22090709-22090759	SK-N-SH	brain:	n/a
11	chr14:22089641-22089691	HAEpiC	amniotic membrane:	n/a
12	chr14:22089641-22089691	GM19239	blood:	n/a
13	chr14:22089641-22089691	Jurkat	blood:	n/a
14	chr14:22090709-22090759	HEEpiC	esophagus:	n/a
15	chr14:22090709-22090759	HCT-116	colon:	n/a
16	chr14:22089641-22089691	HCPEpiC	choroid plexus:	n/a
17	chr14:22090709-22090759	Jurkat	blood:	n/a
18	chr14:22090709-22090759	CMK	blood:	n/a
19	chr14:22090709-22090759	AG09319	gingival:	n/a
20	chr14:22090709-22090759	AoSMC	blood vessel:	n/a
21	chr14:22090709-22090759	HCF	heart:	n/a
22	chr14:22089641-22089691	HL-60	blood:	n/a
23	chr14:22090709-22090759	GM12892	blood:	n/a
24	chr14:22090709-22090759	HRCEpiC	kidney:	n/a
25	chr14:22089641-22089691	GM12892	blood:	n/a
26	chr14:22089641-22089691	HNPCEpiC	eye:	n/a
27	chr14:22090709-22090759	SK-N-SH_RA	brain:	n/a
28	chr14:22089641-22089691	HMEC	breast:	n/a
29	chr14:22089641-22089691	NHDF-neo	bronchial:	n/a
30	chr14:22089641-22089691	T-47D	breast:	n/a
31	chr14:22090709-22090759	SKMC	muscle:	n/a
32	chr14:22089641-22089691	GM06990	blood:	n/a
33	chr14:22089641-22089691	NH-A	brain:	n/a
34	chr14:22089641-22089691	HCF	heart:	n/a
35	chr14:22089641-22089691	Hela-S3	cervix:	n/a
36	chr14:22089641-22089691	ECC-1	luminal epithelium:	n/a
37	chr14:22089641-22089691	LNCaP	prostate:	n/a
38	chr14:22089641-22089691	AG04449	skin:	fetal
39	chr14:22089641-22089691	NT2-D1	testis:	n/a
40	chr14:22090709-22090759	Caco-2	colon:	n/a
41	chr14:22090709-22090759	SAEC	small airway:	n/a
42	chr14:22090709-22090759	NHDF-neo	bronchial:	n/a
43	chr14:22090709-22090759	H1-hESC	embryonic stem cell:	embryo
44	chr14:22090709-22090759	PANC-1	pancreas:	n/a
45	chr14:22089641-22089691	AG09309	skin:	n/a
46	chr14:22090709-22090759	Hepatocyte	liver:	n/a
47	chr14:22090709-22090759	GM06990	blood:	n/a
48	chr14:22089641-22089691	HRPEpiC	eye:	n/a
49	chr14:22090709-22090759	HepG2	liver:	n/a
50	chr14:22090709-22090759	AG09309	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:22031087..22032606-chr14:22098992..22101506,2	MCF-7	breast:
2	chr14:22081094..22083875-chr14:22197364..22199332,2	MCF-7	breast:
3	chr14:22074721..22076475-chr14:22089369..22091494,2	MCF-7	breast:
4	chr14:22073139..22075335-chr14:22078669..22080896,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR10G2-3	chr14:22080078-22080535	NONHSAT035699

Variant related genes	Relation type
ENSG00000256385	TF binding region
TRAV1-1	TF binding region
OR10G1P	TF binding region
ENSG00000256385	CpG island
TRAV1-1	CpG island
OR10G1P	CpG island
ENSG00000256737	chromatin interactions
ENSG00000255569	chromatin interactions
ENSG00000256385	chromatin interactions

Extended variants
information (count: 574 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:574 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569462913	chr14:22070983-22070984	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs535392539	chr14:22070990-22070991	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs549223396	chr14:22071030-22071031	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs149788241	chr14:22071035-22071036	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs112876354	chr14:22071047-22071048	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs12891635	chr14:22071105-22071106	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs571983240	chr14:22071447-22071448	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs114529113	chr14:22071460-22071461	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs535549665	chr14:22071481-22071482	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs563882772	chr14:22071532-22071533	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs532864941	chr14:22071535-22071536	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs550361513	chr14:22071560-22071561	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs190394433	chr14:22071638-22071639	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs563351084	chr14:22071651-22071652	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs182938999	chr14:22071655-22071656	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs201850692	chr14:22071740-22071741	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs568836549	chr14:22071772-22071773	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs549035033	chr14:22071783-22071784	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs536495285	chr14:22072811-22072812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553531551	chr14:22072864-22072865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs67569565	chr14:22072875-22072876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183221177	chr14:22072902-22072903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558795463	chr14:22073014-22073015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370519935	chr14:22073017-22073018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577245831	chr14:22073045-22073046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187841701	chr14:22073084-22073085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560439084	chr14:22073092-22073093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374878348	chr14:22073108-22073109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556820705	chr14:22073127-22073128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73586776	chr14:22073236-22073237	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs117328860	chr14:22073245-22073246	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs527997781	chr14:22073263-22073264	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs542876646	chr14:22073454-22073455	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs12435291	chr14:22073473-22073474	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs35879562	chr14:22073485-22073486	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs531763425	chr14:22073503-22073504	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs528266286	chr14:22073513-22073514	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs192369658	chr14:22073542-22073543	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs137980576	chr14:22073552-22073553	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs370547039	chr14:22073558-22073559	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs530966330	chr14:22073566-22073567	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs78568220	chr14:22073581-22073582	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs183209276	chr14:22073601-22073602	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs567499564	chr14:22073615-22073616	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs149414094	chr14:22073617-22073618	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs201852526	chr14:22073650-22073651	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs74242618	chr14:22073651-22073652	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs200154727	chr14:22073652-22073653	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs192010512	chr14:22073685-22073686	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs71419157	chr14:22073688-22073689	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD
Mortal	21835882	CNVD
Breast cancer	21858162	CNVD
Autism	22102821	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:22072800-22074800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:22080000-22080800	Enhancers	GM12878-XiMat	blood
3	chr14:22080400-22081000	Enhancers	Pancreas	Pancrea
4	chr14:22080800-22081000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:22080800-22081200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr14:22081000-22085600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:22081200-22081600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr14:22081600-22081800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr14:22081600-22082800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr14:22081800-22085600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr14:22082200-22082600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr14:22082400-22082800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr14:22082800-22085600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr14:22082800-22085600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr14:22085400-22086000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr14:22085400-22086000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:22085600-22085800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:22085600-22086000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr14:22085600-22086000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr14:22085600-22086000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr14:22085600-22086200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr14:22085600-22086200	Enhancers	H1 Cell Line	embryonic stem cell
23	chr14:22085600-22086200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr14:22085600-22086600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr14:22085800-22086000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:22085800-22086200	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr14:22086000-22086600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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