Variant report

Variant	nsv528996
Chromosome Location	chr14:22220569-22242293
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	chr14:22236446-22236646	K562	blood:	n/a	n/a
2	BACH1	chr14:22239915-22240160	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr14:22236359-22236692	GM12878	blood:	n/a	n/a
4	BHLHE40	chr14:22236428-22236693	K562	blood:	n/a	n/a
5	CEBPB	chr14:22220415-22220731	HepG2	liver:	n/a	n/a
6	CEBPB	chr14:22220403-22220709	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr14:22236500-22236650	HMF	breast:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
8	CTCF	chr14:22236365-22236751	GM12878	blood:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
9	CTCF	chr14:22225471-22225472	GM10248	blood:	n/a	n/a
10	CTCF	chr14:22236500-22236650	GM12872	blood:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
11	CTCF	chr14:22236451-22236670	HepG2	liver:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
12	CTCF	chr14:22236480-22236630	Caco-2	colon:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
13	CTCF	chr14:22236780-22236930	AG04450	lung:	n/a	n/a
14	CTCF	chr14:22236480-22236630	HRE	kidney:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
15	CTCF	chr14:22236489-22236670	GM13976	blood:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
16	CTCF	chr14:22236480-22236630	HVMF	connective:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
17	CTCF	chr14:22236460-22236610	HPF	lung:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
18	CTCF	chr14:22236480-22236630	MCF-7	breast:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
19	CTCF	chr14:22236520-22236670	HMEC	breast:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
20	CTCF	chr14:22236440-22236590	GM12874	blood:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
21	CTCF	chr14:22236424-22236694	HUVEC	blood vessel:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
22	CTCF	chr14:22236489-22236626	ProgFib	skin:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
23	CTCF	chr14:22236301-22237044	SK-N-SH	brain:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
24	CTCF	chr14:22235980-22236130	BE2_C	brain:	n/a	n/a
25	CTCF	chr14:22236400-22236550	HAc	cerebellar:	n/a	n/a
26	CTCF	chr14:22236500-22236650	GM12868	blood:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
27	CTCF	chr14:22237220-22237370	HUVEC	blood vessel:	n/a	n/a
28	CTCF	chr14:22236500-22236650	A549	lung:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
29	CTCF	chr14:22236500-22236650	HEK293	kidney:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
30	CTCF	chr14:22236466-22236732	K562	blood:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
31	CTCF	chr14:22236460-22236610	HepG2	liver:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
32	CTCF	chr14:22236540-22236690	HPF	lung:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
33	CTCF	chr14:22236493-22236628	Pancreas_OC	pancreas:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
34	CTCF	chr14:22236440-22236590	GM06990	blood:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
35	CTCF	chr14:22236480-22236630	GM12801	blood:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
36	CTCF	chr14:22236560-22236710	HCT-116	colon:	n/a	n/a
37	CTCF	chr14:22236400-22236550	GM12871	blood:	n/a	n/a
38	CTCF	chr14:22236331-22236856	MCF-7	breast:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
39	CTCF	chr14:22236500-22236650	HCPEpiC	choroid plexus:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
40	CTCF	chr14:22236520-22236670	HRPEpiC	eye:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
41	CTCF	chr14:22236367-22236749	K562	blood:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
42	CTCF	chr14:22236540-22236690	HA-sp	spinal cord:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
43	CTCF	chr14:22236440-22236590	BJ	skin:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
44	CTCF	chr14:22236445-22236626	T-47D	breast:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
45	CTCF	chr14:22236500-22236650	WERI-Rb-1	eye:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
46	CTCF	chr14:22236449-22236679	LNCaP	prostate:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
47	CTCF	chr14:22236440-22236672	GM13977	blood:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
48	CTCF	chr14:22236520-22236670	HCFaa	heart:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
49	CTCF	chr14:22236400-22236550	GM12870	blood:	n/a	n/a
50	CTCF	chr14:22236389-22236669	K562	blood:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:22236519-22236569	IMR90	lung:	fetal
2	chr14:22236519-22236569	IMR90	lung:	fetal
3	chr14:22241537-22241587	HRPEpiC	eye:	n/a
4	chr14:22241537-22241587	SKMC	muscle:	n/a
5	chr14:22236519-22236569	BJ	skin:	n/a
6	chr14:22236598-22236648	GM12891	blood:	n/a
7	chr14:22241537-22241587	GM06990	blood:	n/a
8	chr14:22236018-22236068	AG10803	skin:	n/a
9	chr14:22236519-22236569	AG09319	gingival:	n/a
10	chr14:22241537-22241587	HPAEpiC	pulmonary alveolar:	n/a
11	chr14:22236598-22236648	AoSMC	blood vessel:	n/a
12	chr14:22241537-22241587	NB4	blood:	n/a
13	chr14:22236018-22236068	HEK293	kidney:	embryo
14	chr14:22236018-22236068	HCT-116	colon:	n/a
15	chr14:22236018-22236068	RPTEC	kidney:	n/a
16	chr14:22236519-22236569	GM06990	blood:	n/a
17	chr14:22236598-22236648	PFSK-1	brain:	n/a
18	chr14:22236519-22236569	H1-hESC	embryonic stem cell:	embryo
19	chr14:22236598-22236648	AG04450	lung:	fetal
20	chr14:22236018-22236068	Hepatocyte	liver:	n/a
21	chr14:22236018-22236068	HEEpiC	esophagus:	n/a
22	chr14:22241537-22241587	HRCEpiC	kidney:	n/a
23	chr14:22241537-22241587	AG09319	gingival:	n/a
24	chr14:22236598-22236648	HEK293	kidney:	embryo
25	chr14:22236598-22236648	HRPEpiC	eye:	n/a
26	chr14:22236598-22236648	SKMC	muscle:	n/a
27	chr14:22236018-22236068	SAEC	small airway:	n/a
28	chr14:22236018-22236068	NT2-D1	testis:	n/a
29	chr14:22236519-22236569	AoSMC	blood vessel:	n/a
30	chr14:22236018-22236068	Hela-S3	cervix:	n/a
31	chr14:22236598-22236648	HUVEC	blood vessel:	n/a
32	chr14:22236519-22236569	SK-N-SH	brain:	n/a
33	chr14:22236018-22236068	AG04450	lung:	fetal
34	chr14:22241537-22241587	AG10803	skin:	n/a
35	chr14:22236598-22236648	HCF	heart:	n/a
36	chr14:22236519-22236569	HCM	heart:	n/a
37	chr14:22241537-22241587	BE2_C	brain:	n/a
38	chr14:22236598-22236648	SK-N-SH	brain:	n/a
39	chr14:22236018-22236068	CMK	blood:	n/a
40	chr14:22241537-22241587	CMK	blood:	n/a
41	chr14:22236598-22236648	GM19239	blood:	n/a
42	chr14:22236598-22236648	HCPEpiC	choroid plexus:	n/a
43	chr14:22236519-22236569	HEEpiC	esophagus:	n/a
44	chr14:22236598-22236648	SK-N-SH_RA	brain:	n/a
45	chr14:22236519-22236569	GM12891	blood:	n/a
46	chr14:22236018-22236068	BJ	skin:	n/a
47	chr14:22241537-22241587	HCM	heart:	n/a
48	chr14:22236519-22236569	A549	lung:	n/a
49	chr14:22236018-22236068	PFSK-1	brain:	n/a
50	chr14:22236519-22236569	HIPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:22238003..22239945-chr14:22252615..22254697,2	MCF-7	breast:
2	chr14:22236090..22236721-chr14:22293035..22293909,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AE000662.92.1-10	chr14:22237068-22237313	NONHSAT035705

Variant related genes	Relation type
TRAV6	TF binding region
TRAV6	CpG island
ENSG00000211784	chromatin interactions

Extended variants
information (count: 659 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:659 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4982495	chr14:22220569-22220570	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs537490641	chr14:22220578-22220579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4982496	chr14:22220637-22220638	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs540818340	chr14:22220659-22220660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141517455	chr14:22220660-22220661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs587651188	chr14:22220696-22220697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201778430	chr14:22220709-22220710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572845441	chr14:22220712-22220713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375879142	chr14:22220731-22220732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538740940	chr14:22220780-22220781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564866393	chr14:22220813-22220814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150752715	chr14:22220824-22220825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553178504	chr14:22220840-22220841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543834413	chr14:22220842-22220843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560847610	chr14:22220870-22220871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529977627	chr14:22220873-22220874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs137968124	chr14:22220894-22220895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566552322	chr14:22220916-22220917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374657634	chr14:22220931-22220932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552373648	chr14:22220938-22220939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111793082	chr14:22220946-22220947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7141383	chr14:22220957-22220958	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs536377525	chr14:22220959-22220960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555042542	chr14:22220960-22220961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568728088	chr14:22220977-22220978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554391912	chr14:22220978-22220979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534496974	chr14:22220979-22220980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371079701	chr14:22221006-22221007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554311477	chr14:22221016-22221017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576043423	chr14:22221018-22221019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144765145	chr14:22221019-22221020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7158042	chr14:22221077-22221078	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs558351143	chr14:22221081-22221082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs193009272	chr14:22221120-22221121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543797649	chr14:22221139-22221140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12436913	chr14:22221154-22221155	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs12434035	chr14:22221166-22221167	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs10150226	chr14:22221169-22221170	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs145704131	chr14:22221178-22221179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532186342	chr14:22221206-22221207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552395476	chr14:22221207-22221208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12434054	chr14:22221211-22221212	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs531849788	chr14:22221265-22221266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74035048	chr14:22221275-22221276	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs568485174	chr14:22221316-22221317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534457844	chr14:22221344-22221345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184133636	chr14:22221424-22221425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532368548	chr14:22221456-22221457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73574260	chr14:22221462-22221463	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs539643922	chr14:22221512-22221513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Autism	22102821	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:22219000-22228600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:22228600-22228800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:22228600-22229000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr14:22228600-22229200	Enhancers	H9 Cell Line	embryonic stem cell
5	chr14:22228800-22229000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:22236200-22236800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr14:22236200-22237000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr14:22236200-22237400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr14:22236200-22237400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr14:22236400-22236600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr14:22236400-22237000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr14:22236600-22236800	Enhancers	Primary T cells fromperipheralblood	blood
13	chr14:22236600-22237000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr14:22236600-22237000	Active TSS	Thymus	Thymus
15	chr14:22236600-22237400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:22236800-22237000	Enhancers	Fetal Thymus	thymus
17	chr14:22236800-22237200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr14:22236800-22237200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
19	chr14:22236800-22237400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:22236800-22237400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:22237000-22244600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr14:22237400-22239600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr14:22237400-22245000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr14:22239400-22240200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr14:22239600-22240200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr14:22239600-22240400	Enhancers	HMEC	breast
27	chr14:22239600-22240400	Enhancers	NHEK	skin
28	chr14:22239800-22240200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr14:22239800-22240400	Enhancers	Placenta Amnion	Placenta Amnion
30	chr14:22240000-22244600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr14:22241400-22242000	Enhancers	HepG2	liver

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