Variant report

Variant	nsv916964
Chromosome Location	chr14:20691437-20716830
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	chr14:20715960-20716110	GM12878	blood:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
3	CTCF	chr14:20715884-20716139	K562	blood:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
4	CTCF	chr14:20715940-20716090	AoAF	blood vessel:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
5	CTCF	chr14:20715880-20716030	HL-60	blood:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
6	CTCF	chr14:20715762-20716127	MCF-7	breast:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
7	CTCF	chr14:20715747-20716204	MCF-7	breast:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
8	CTCF	chr14:20715880-20716030	HEEpiC	esophagus:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
9	CTCF	chr14:20715849-20716080	HepG2	liver:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
10	CTCF	chr14:20715940-20716090	SAEC	small airway:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
11	CTCF	chr14:20715940-20716090	GM12878	blood:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
12	CTCF	chr14:20715940-20716090	GM12873	blood:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
13	CTCF	chr14:20715900-20716050	GM12865	blood:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
14	CTCF	chr14:20715900-20716050	HCT-116	colon:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
15	CTCF	chr14:20715960-20716110	Hela-S3	cervix:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
16	CTCF	chr14:20715972-20715973	Spleen_OC	spleen:	n/a	n/a
17	CTCF	chr14:20715920-20716070	GM06990	blood:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
18	CTCF	chr14:20715960-20716110	NHEK	skin:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
19	CTCF	chr14:20715900-20716050	HMEC	breast:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
20	CTCF	chr14:20715645-20716385	A549	lung:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
21	CTCF	chr14:20715940-20716090	GM12866	blood:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
22	CTCF	chr14:20715971-20716124	ProgFib	skin:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
23	CTCF	chr14:20715980-20716130	RPTEC	kidney:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
24	CTCF	chr14:20716060-20716210	A549	lung:	n/a	n/a
25	CTCF	chr14:20715900-20716050	GM12873	blood:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
26	CTCF	chr14:20715879-20716148	LNCaP	prostate:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
27	CTCF	chr14:20715960-20716110	HCT-116	colon:	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	chr14:20715940-20716090	GM12871	blood:	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	chr14:20715940-20716090	HEK293	kidney:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
32	CTCF	chr14:20715940-20716090	K562	blood:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
33	CTCF	chr14:20715892-20716120	Hela-S3	cervix:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
34	CTCF	chr14:20715960-20716110	WERI-Rb-1	eye:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
35	CTCF	chr14:20715954-20716101	GM10248	blood:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
36	CTCF	chr14:20715920-20716070	GM12872	blood:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
37	CTCF	chr14:20715885-20716137	LNCaP	prostate:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
38	CTCF	chr14:20715914-20716107	Pancreas_OC	pancreas:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
39	CTCF	chr14:20715900-20716050	HMF	breast:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
40	CTCF	chr14:20715880-20716030	BE2_C	brain:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
41	CTCF	chr14:20715940-20716090	GM12801	blood:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
42	CTCF	chr14:20715889-20716162	MCF-7	breast:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
43	CTCF	chr14:20715820-20715970	A549	lung:	n/a	n/a
44	CTCF	chr14:20693369-20693508	HepG2	liver:	n/a	n/a
45	CTCF	chr14:20715940-20716090	GM12874	blood:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
46	CTCF	chr14:20693300-20693450	K562	blood:	n/a	n/a
47	CTCF	chr14:20715940-20716090	GM12872	blood:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
48	CTCF	chr14:20715980-20716130	GM12868	blood:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
49	CTCF	chr14:20715940-20716090	GM12864	blood:	n/a	chr14:20715990-20716008 chr14:20715985-20716006
50	CTCF	chr14:20715880-20716030	HFF-Myc	foreskin:	n/a	chr14:20715990-20716008 chr14:20715985-20716006

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:20710881-20710931	HCF	heart:	n/a
2	chr14:20692622-20692672	GM12891	blood:	n/a
3	chr14:20710881-20710931	HCF	heart:	n/a
4	chr14:20692622-20692672	GM12891	blood:	n/a
5	chr14:20710315-20710365	ProgFib	skin:	n/a
6	chr14:20711344-20711394	PrEC	prostate:	n/a
7	chr14:20710881-20710931	ovcar-3	ovarian:	n/a
8	chr14:20710315-20710365	AG09309	skin:	n/a
9	chr14:20710905-20710955	HPAEpiC	pulmonary alveolar:	n/a
10	chr14:20710315-20710365	NT2-D1	testis:	n/a
11	chr14:20710905-20710955	IMR90	lung:	fetal
12	chr14:20710315-20710365	MCF-7	breast:	n/a
13	chr14:20710881-20710931	SK-N-SH	brain:	n/a
14	chr14:20710881-20710931	HNPCEpiC	eye:	n/a
15	chr14:20691777-20691827	Jurkat	blood:	n/a
16	chr14:20710905-20710955	HL-60	blood:	n/a
17	chr14:20691777-20691827	GM12892	blood:	n/a
18	chr14:20710315-20710365	HCT-116	colon:	n/a
19	chr14:20711344-20711394	U87	brain:	n/a
20	chr14:20704361-20704411	HUVEC	blood vessel:	n/a
21	chr14:20710905-20710955	NHDF-neo	bronchial:	n/a
22	chr14:20710905-20710955	AG09309	skin:	n/a
23	chr14:20704361-20704411	BJ	skin:	n/a
24	chr14:20710315-20710365	HCF	heart:	n/a
25	chr14:20710315-20710365	SK-N-SH_RA	brain:	n/a
26	chr14:20710881-20710931	HIPEpiC	eye:	n/a
27	chr14:20692622-20692672	ECC-1	luminal epithelium:	n/a
28	chr14:20710905-20710955	GM12878	blood:	n/a
29	chr14:20711344-20711394	HNPCEpiC	eye:	n/a
30	chr14:20704361-20704411	ovcar-3	ovarian:	n/a
31	chr14:20704361-20704411	U87	brain:	n/a
32	chr14:20710315-20710365	BJ	skin:	n/a
33	chr14:20691777-20691827	A549	lung:	n/a
34	chr14:20692622-20692672	HEK293	kidney:	embryo
35	chr14:20710881-20710931	ECC-1	luminal epithelium:	n/a
36	chr14:20691777-20691827	GM19239	blood:	n/a
37	chr14:20692622-20692672	Caco-2	colon:	n/a
38	chr14:20710315-20710365	GM19239	blood:	n/a
39	chr14:20710315-20710365	RPTEC	kidney:	n/a
40	chr14:20710315-20710365	Jurkat	blood:	n/a
41	chr14:20704361-20704411	NT2-D1	testis:	n/a
42	chr14:20710315-20710365	GM06990	blood:	n/a
43	chr14:20711344-20711394	H1-hESC	embryonic stem cell:	embryo
44	chr14:20710881-20710931	AG10803	skin:	n/a
45	chr14:20710881-20710931	NH-A	brain:	n/a
46	chr14:20691777-20691827	HL-60	blood:	n/a
47	chr14:20711344-20711394	NB4	blood:	n/a
48	chr14:20711344-20711394	A549	lung:	n/a
49	chr14:20710905-20710955	HepG2	liver:	n/a
50	chr14:20691777-20691827	HNPCEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:20691139..20693631-chr14:20695657..20698105,2	K562	blood:
2	chr14:20691139..20693631-chr14:20695657..20698105,2	K562	blood:

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

Extended variants
information (count: 353 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:353 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141911436	chr14:20691443-20691444	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs78304232	chr14:20691447-20691448	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs376089220	chr14:20691506-20691507	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs188372764	chr14:20691524-20691525	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs2184671	chr14:20691525-20691526	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs557944380	chr14:20691528-20691529	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs150560524	chr14:20691572-20691573	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs10498266	chr14:20691610-20691611	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs180734082	chr14:20691653-20691654	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs17211264	chr14:20691662-20691663	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs185834360	chr14:20691664-20691665	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs139595522	chr14:20691665-20691666	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs17106268	chr14:20691718-20691719	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs572055742	chr14:20691726-20691727	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs546378303	chr14:20691736-20691737	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs45501895	chr14:20691752-20691753	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs545054617	chr14:20691760-20691761	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs144469985	chr14:20691766-20691767	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs200572314	chr14:20691772-20691773	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs79648471	chr14:20691777-20691778	Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs368646757	chr14:20691826-20691827	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs147433998	chr14:20691855-20691856	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs565599003	chr14:20691861-20691862	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs148940765	chr14:20691881-20691882	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs10140652	chr14:20691888-20691889	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs369904054	chr14:20691891-20691892	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs551257417	chr14:20691943-20691944	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs569846585	chr14:20691961-20691962	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs9323693	chr14:20691962-20691963	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs555887602	chr14:20691966-20691967	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs141900029	chr14:20691992-20691993	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs373020363	chr14:20691994-20691995	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs375505746	chr14:20692002-20692003	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs147264499	chr14:20692011-20692012	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs369868397	chr14:20692026-20692027	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs149861478	chr14:20692028-20692029	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs111468039	chr14:20692044-20692045	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs143195914	chr14:20692076-20692077	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs553013613	chr14:20692082-20692083	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs201233405	chr14:20692083-20692084	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs267603920	chr14:20692087-20692088	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs200550313	chr14:20692093-20692094	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs145052055	chr14:20692098-20692099	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs377239717	chr14:20692101-20692102	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs139409894	chr14:20692103-20692104	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs267603921	chr14:20692132-20692133	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs370128507	chr14:20692177-20692178	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs576558552	chr14:20692184-20692185	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs12891553	chr14:20692188-20692189	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs148394506	chr14:20692208-20692209	Enhancers	Chromatin interactive region	1 gene(s)	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20691200-20692600	Enhancers	K562	blood
2	chr14:20695400-20695600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:20698000-20698400	Active TSS	Fetal Heart	heart
4	chr14:20704000-20704400	Active TSS	HepG2	liver
5	chr14:20707000-20707200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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