Variant report

Variant	nsv901467
Chromosome Location	chr14:20687978-20719360
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	BRCA1	chr14:20716040-20716061	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr14:20715929-20716087	GM13977	blood:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
3	CTCF	chr14:20693400-20693550	HepG2	liver:	n/a	n/a
4	CTCF	chr14:20715900-20716050	HCT-116	colon:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
5	CTCF	chr14:20715914-20716113	GM12878	blood:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
6	CTCF	chr14:20715883-20716057	H1-hESC	embryonic stem cell:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
7	CTCF	chr14:20693300-20693450	K562	blood:	n/a	n/a
8	CTCF	chr14:20715980-20716130	GM12868	blood:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
9	CTCF	chr14:20715920-20716070	GM12872	blood:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
10	CTCF	chr14:20715920-20716070	GM12864	blood:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
11	CTCF	chr14:20715940-20716090	GM12873	blood:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
12	CTCF	chr14:20715920-20716070	Hela-S3	cervix:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
13	CTCF	chr14:20715920-20716070	GM06990	blood:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
14	CTCF	chr14:20715940-20716090	GM12865	blood:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
15	CTCF	chr14:20693378-20693513	K562	blood:	n/a	n/a
16	CTCF	chr14:20715900-20716050	GM12873	blood:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
17	CTCF	chr14:20715940-20716090	GM12878	blood:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
18	CTCF	chr14:20715900-20716050	HMEC	breast:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
19	CTCF	chr14:20693369-20693508	HepG2	liver:	n/a	n/a
20	CTCF	chr14:20715880-20716030	HFF-Myc	foreskin:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
21	CTCF	chr14:20715891-20716084	T-47D	breast:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
22	CTCF	chr14:20715980-20716130	SK-N-SH_RA	brain:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
23	CTCF	chr14:20715920-20716070	HepG2	liver:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
24	CTCF	chr14:20715900-20716050	GM12865	blood:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
25	CTCF	chr14:20715880-20716030	BE2_C	brain:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
26	CTCF	chr14:20715920-20716070	HRPEpiC	eye:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
27	CTCF	chr14:20715920-20716070	GM12871	blood:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
28	CTCF	chr14:20715929-20716073	HUVEC	blood vessel:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
29	CTCF	chr14:20715889-20716162	MCF-7	breast:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
30	CTCF	chr14:20715920-20716070	GM12868	blood:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
31	CTCF	chr14:20715972-20715973	Spleen_OC	spleen:	n/a	n/a
32	CTCF	chr14:20715800-20715950	RPTEC	kidney:	n/a	n/a
33	CTCF	chr14:20715960-20716110	Hela-S3	cervix:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
34	CTCF	chr14:20715998-20716039	Gliobla	brain:	n/a	n/a
35	CTCF	chr14:20715900-20716050	HEEpiC	esophagus:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
36	CTCF	chr14:20715966-20716062	MCF-7	breast:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
37	CTCF	chr14:20715900-20716146	MCF-7	breast:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
38	CTCF	chr14:20715820-20715970	HRE	kidney:	n/a	n/a
39	CTCF	chr14:20715940-20716090	GM12871	blood:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
40	CTCF	chr14:20715980-20716130	RPTEC	kidney:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
41	CTCF	chr14:20715940-20716090	AoAF	blood vessel:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
42	CTCF	chr14:20715880-20716030	HRPEpiC	eye:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
43	CTCF	chr14:20715645-20716385	A549	lung:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
44	CTCF	chr14:20715920-20716070	A549	lung:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
45	CTCF	chr14:20715840-20715990	HPAF	blood vessel:	n/a	n/a
46	CTCF	chr14:20715941-20716089	GM10266	blood:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
47	CTCF	chr14:20715891-20716095	SK-N-SH_RA	brain:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
48	CTCF	chr14:20715900-20716050	HMF	breast:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
49	CTCF	chr14:20715918-20716161	K562	blood:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
50	CTCF	chr14:20715940-20716090	GM12867	blood:	n/a	chr14:20715990-20716008 chr14:20715985-20716006

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:20710315-20710365	K562	blood:	n/a
2	chr14:20710881-20710931	SAEC	small airway:	n/a
3	chr14:20710315-20710365	K562	blood:	n/a
4	chr14:20710881-20710931	SAEC	small airway:	n/a
5	chr14:20710315-20710365	HCF	heart:	n/a
6	chr14:20692622-20692672	HPAEpiC	pulmonary alveolar:	n/a
7	chr14:20710905-20710955	SK-N-SH_RA	brain:	n/a
8	chr14:20710315-20710365	CMK	blood:	n/a
9	chr14:20711344-20711394	HCF	heart:	n/a
10	chr14:20704361-20704411	HIPEpiC	eye:	n/a
11	chr14:20691777-20691827	AG04450	lung:	fetal
12	chr14:20710881-20710931	SK-N-MC	brain:	n/a
13	chr14:20704361-20704411	Hela-S3	cervix:	n/a
14	chr14:20710905-20710955	AG09309	skin:	n/a
15	chr14:20691777-20691827	SKMC	muscle:	n/a
16	chr14:20704361-20704411	HCM	heart:	n/a
17	chr14:20692622-20692672	LNCaP	prostate:	n/a
18	chr14:20691777-20691827	RPTEC	kidney:	n/a
19	chr14:20711344-20711394	SK-N-SH_RA	brain:	n/a
20	chr14:20691777-20691827	AG09309	skin:	n/a
21	chr14:20710315-20710365	Jurkat	blood:	n/a
22	chr14:20704361-20704411	PANC-1	pancreas:	n/a
23	chr14:20710315-20710365	A549	lung:	n/a
24	chr14:20692622-20692672	ProgFib	skin:	n/a
25	chr14:20711344-20711394	AG10803	skin:	n/a
26	chr14:20692622-20692672	NHBE	bronchial:	n/a
27	chr14:20711344-20711394	SAEC	small airway:	n/a
28	chr14:20691777-20691827	HCT-116	colon:	n/a
29	chr14:20710881-20710931	AG09309	skin:	n/a
30	chr14:20704361-20704411	HUVEC	blood vessel:	n/a
31	chr14:20691777-20691827	HEK293	kidney:	embryo
32	chr14:20710881-20710931	GM12892	blood:	n/a
33	chr14:20704361-20704411	HNPCEpiC	eye:	n/a
34	chr14:20692622-20692672	MCF-7	breast:	n/a
35	chr14:20710881-20710931	ovcar-3	ovarian:	n/a
36	chr14:20711344-20711394	HPAEpiC	pulmonary alveolar:	n/a
37	chr14:20710905-20710955	BE2_C	brain:	n/a
38	chr14:20710315-20710365	HRE	kidney:	n/a
39	chr14:20710905-20710955	HCF	heart:	n/a
40	chr14:20711344-20711394	GM12891	blood:	n/a
41	chr14:20691777-20691827	MCF10A-Er-Src	breast:	n/a
42	chr14:20692622-20692672	HIPEpiC	eye:	n/a
43	chr14:20692622-20692672	GM19239	blood:	n/a
44	chr14:20710905-20710955	Jurkat	blood:	n/a
45	chr14:20691777-20691827	HUVEC	blood vessel:	n/a
46	chr14:20710315-20710365	BJ	skin:	n/a
47	chr14:20710315-20710365	GM12892	blood:	n/a
48	chr14:20704361-20704411	HL-60	blood:	n/a
49	chr14:20692622-20692672	H1-hESC	embryonic stem cell:	embryo
50	chr14:20704361-20704411	BE2_C	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:20691139..20693631-chr14:20695657..20698105,2	K562	blood:
2	chr14:20716993..20719012-chr14:20810406..20812740,2	MCF-7	breast:
3	chr14:20691139..20693631-chr14:20695657..20698105,2	K562	blood:
4	chr14:20674085..20677001-chr14:20687478..20690164,2	MCF-7	breast:

Variant related genes	Relation type
OR11H6	TF binding region
OR11H4	TF binding region
OR11H7	TF binding region
ENSG00000266336	TF binding region
OR11H6	CpG island
OR11H4	CpG island
OR11H7	CpG island
ENSG00000266336	CpG island
ENSG00000129484	chromatin interactions
ENSG00000259001	chromatin interactions
ENSG00000258806	chromatin interactions
ENSG00000176219	chromatin interactions

Extended variants
information (count: 617 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:617 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8014956	chr14:20687978-20687979	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs377342507	chr14:20687981-20687982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545119830	chr14:20688017-20688018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189691521	chr14:20688035-20688036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573671643	chr14:20688074-20688075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146967649	chr14:20688079-20688080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs8015147	chr14:20688109-20688110	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs139202135	chr14:20688121-20688122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545149596	chr14:20688132-20688133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542823743	chr14:20688135-20688136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528405559	chr14:20688203-20688204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546770535	chr14:20688204-20688205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565101476	chr14:20688264-20688265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532213663	chr14:20688291-20688292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149404539	chr14:20688296-20688297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374498919	chr14:20688339-20688340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139686715	chr14:20688340-20688341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182691933	chr14:20688375-20688376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547914779	chr14:20688378-20688379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553486625	chr14:20688400-20688401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143802862	chr14:20688427-20688428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553123110	chr14:20688508-20688509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10145456	chr14:20688514-20688515	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs551615689	chr14:20688532-20688533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185595282	chr14:20688564-20688565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575690616	chr14:20688575-20688576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10136492	chr14:20688597-20688598	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs10150129	chr14:20688628-20688629	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs28710101	chr14:20688633-20688634	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs561780443	chr14:20688645-20688646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540552017	chr14:20688658-20688659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74496346	chr14:20688702-20688703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77814730	chr14:20688704-20688705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565214243	chr14:20688722-20688723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142033119	chr14:20688723-20688724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544123862	chr14:20688725-20688726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562592493	chr14:20688817-20688818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374231063	chr14:20688820-20688821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548119372	chr14:20688834-20688835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528851244	chr14:20688850-20688851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146336209	chr14:20688912-20688913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139123441	chr14:20688919-20688920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546872345	chr14:20688924-20688925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149937592	chr14:20688934-20688935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542417813	chr14:20689008-20689009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61003440	chr14:20689062-20689063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538840061	chr14:20689076-20689077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548581795	chr14:20689092-20689093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368141524	chr14:20689094-20689095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377373139	chr14:20689125-20689126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20687800-20688200	Enhancers	A549	lung
2	chr14:20687800-20691200	Weak transcription	K562	blood
3	chr14:20691200-20692600	Enhancers	K562	blood
4	chr14:20695400-20695600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:20698000-20698400	Active TSS	Fetal Heart	heart
6	chr14:20704000-20704400	Active TSS	HepG2	liver
7	chr14:20707000-20707200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:20718600-20719200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
9	chr14:20718800-20724200	Weak transcription	Ovary	ovary
10	chr14:20719200-20719400	ZNF genes & repeats	Aorta	Aorta

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