Variant report

Variant	rs8018580
Chromosome Location	chr14:64108766-64108767
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:455)
CpG islands
(count:122)
Chromatin interactive
region (count:19)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:455 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr14:64108717-64109241	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:64107867-64109296	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr14:64107871-64109458	Hela-S3	cervix:	n/a	chr14:64108332-64108341
4	GATA3	chr14:64108068-64108791	T-47D	breast:	n/a	n/a
5	ELF1	chr14:64108435-64108998	HepG2	liver:	n/a	chr14:64108800-64108813
6	ELF1	chr14:64107902-64109632	HCT-116	colon:	n/a	chr14:64108800-64108813
7	ZNF143	chr14:64108007-64109482	GM12878	blood:	n/a	chr14:64109194-64109212 chr14:64109201-64109210 chr14:64109203-64109212
8	MTA3	chr14:64107739-64109465	GM12878	blood:	n/a	n/a
9	FOS	chr14:64108540-64109257	MCF10A-Er-Src	breast:	n/a	n/a
10	FOXA1	chr14:64108083-64108942	T-47D	breast:	n/a	n/a
11	TAF1	chr14:64107826-64109302	A549	lung:	n/a	n/a
12	POLR2A	chr14:64107903-64109455	GM12878	blood:	n/a	n/a
13	HDAC2	chr14:64108621-64109230	H1-hESC	embryonic stem cell:	n/a	n/a
14	CREB1	chr14:64108094-64109463	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr14:64108714-64109151	GM12891	blood:	n/a	n/a
16	MXI1	chr14:64107990-64109409	HepG2	liver:	n/a	n/a
17	PAX5	chr14:64108233-64108852	GM12891	blood:	n/a	chr14:64108678-64108697
18	MYC	chr14:64108124-64109308	K562	blood:	n/a	chr14:64108365-64108372
19	PML	chr14:64108060-64109343	MCF-7	breast:	n/a	n/a
20	SIN3AK20	chr14:64107750-64109541	MCF-7	breast:	n/a	n/a
21	GABPA	chr14:64107996-64109442	MCF-7	breast:	n/a	n/a
22	YY1	chr14:64108083-64109265	GM12892	blood:	n/a	chr14:64108553-64108567
23	CEBPB	chr14:64107954-64108926	A549	lung:	n/a	n/a
24	ELK1	chr14:64108147-64109398	K562	blood:	n/a	n/a
25	USF1	chr14:64108168-64108866	ECC-1	luminal epithelium:	n/a	n/a
26	EGR1	chr14:64108260-64108982	GM12878	blood:	n/a	n/a
27	MXI1	chr14:64107855-64109285	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr14:64108069-64108976	A549	lung:	n/a	n/a
29	PML	chr14:64108043-64109175	K562	blood:	n/a	n/a
30	CBX3	chr14:64108046-64109211	K562	blood:	n/a	n/a
31	JUND	chr14:64107941-64109460	HepG2	liver:	n/a	n/a
32	PAX5	chr14:64108260-64108775	GM12892	blood:	n/a	chr14:64108678-64108697
33	POLR2A	chr14:64107870-64109306	Hela-S3	cervix:	n/a	n/a
34	EP300	chr14:64107888-64109447	GM12878	blood:	n/a	n/a
35	YY1	chr14:64108681-64109035	GM12891	blood:	n/a	n/a
36	TAF1	chr14:64107841-64108869	ECC-1	luminal epithelium:	n/a	n/a
37	BRCA1	chr14:64107916-64109342	Hela-S3	cervix:	n/a	chr14:64108408-64108417
38	USF1	chr14:64108671-64108957	SK-N-SH_RA	brain:	n/a	n/a
39	PAX5	chr14:64108119-64108881	GM12878	blood:	n/a	chr14:64108678-64108697
40	POLR2A	chr14:64107850-64109351	PFSK-1	brain:	n/a	n/a
41	USF1	chr14:64108046-64108998	ECC-1	luminal epithelium:	n/a	n/a
42	TBL1XR1	chr14:64107941-64109324	GM12878	blood:	n/a	n/a
43	POLR2A	chr14:64107927-64109086	K562	blood:	n/a	n/a
44	POLR2A	chr14:64108097-64108972	A549	lung:	n/a	n/a
45	GTF2F1	chr14:64107915-64109340	Hela-S3	cervix:	n/a	n/a
46	SP2	chr14:64108110-64109355	HepG2	liver:	n/a	chr14:64108675-64108690
47	POLR2A	chr14:64108083-64109013	MCF-7	breast:	n/a	n/a
48	TAF1	chr14:64108056-64109229	GM12878	blood:	n/a	n/a
49	RFX5	chr14:64107904-64109369	Hela-S3	cervix:	n/a	n/a
50	GABPA	chr14:64108511-64109497	A549	lung:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:64108740-64108790	NHDF-neo	bronchial:	n/a
2	chr14:64108740-64108790	HepG2	liver:	n/a
3	chr14:64108752-64108802	SK-N-MC	brain:	n/a
4	chr14:64108740-64108790	AG10803	skin:	n/a
5	chr14:64108752-64108802	HUVEC	blood vessel:	n/a
6	chr14:64108740-64108790	SKMC	muscle:	n/a
7	chr14:64108752-64108802	K562	blood:	n/a
8	chr14:64108752-64108802	HCF	heart:	n/a
9	chr14:64108752-64108802	PANC-1	pancreas:	n/a
10	chr14:64108740-64108790	AG04449	skin:	fetal
11	chr14:64108752-64108802	SAEC	small airway:	n/a
12	chr14:64108740-64108790	HRE	kidney:	n/a
13	chr14:64108740-64108790	GM19239	blood:	n/a
14	chr14:64108752-64108802	AG04450	lung:	fetal
15	chr14:64108740-64108790	NHBE	bronchial:	n/a
16	chr14:64108752-64108802	HIPEpiC	eye:	n/a
17	chr14:64108752-64108802	BE2_C	brain:	n/a
18	chr14:64108752-64108802	HRE	kidney:	n/a
19	chr14:64108752-64108802	A549	lung:	n/a
20	chr14:64108740-64108790	HIPEpiC	eye:	n/a
21	chr14:64108740-64108790	Hepatocyte	liver:	n/a
22	chr14:64108740-64108790	ovcar-3	ovarian:	n/a
23	chr14:64108752-64108802	NHDF-neo	bronchial:	n/a
24	chr14:64108752-64108802	IMR90	lung:	fetal
25	chr14:64108740-64108790	K562	blood:	n/a
26	chr14:64108752-64108802	LNCaP	prostate:	n/a
27	chr14:64108752-64108802	H1-hESC	embryonic stem cell:	embryo
28	chr14:64108740-64108790	CMK	blood:	n/a
29	chr14:64108752-64108802	HNPCEpiC	eye:	n/a
30	chr14:64108752-64108802	HCT-116	colon:	n/a
31	chr14:64108740-64108790	HCF	heart:	n/a
32	chr14:64108740-64108790	SK-N-SH_RA	brain:	n/a
33	chr14:64108740-64108790	HPAEpiC	pulmonary alveolar:	n/a
34	chr14:64108752-64108802	HL-60	blood:	n/a
35	chr14:64108752-64108802	AoSMC	blood vessel:	n/a
36	chr14:64108752-64108802	PrEC	prostate:	n/a
37	chr14:64108740-64108790	HCM	heart:	n/a
38	chr14:64108740-64108790	NT2-D1	testis:	n/a
39	chr14:64108752-64108802	SK-N-SH	brain:	n/a
40	chr14:64108740-64108790	GM12878	blood:	n/a
41	chr14:64108740-64108790	HEEpiC	esophagus:	n/a
42	chr14:64108752-64108802	ProgFib	skin:	n/a
43	chr14:64108752-64108802	HRPEpiC	eye:	n/a
44	chr14:64108752-64108802	SKMC	muscle:	n/a
45	chr14:64108752-64108802	Caco-2	colon:	n/a
46	chr14:64108740-64108790	MCF-7	breast:	n/a
47	chr14:64108752-64108802	HPAEpiC	pulmonary alveolar:	n/a
48	chr14:64108752-64108802	HepG2	liver:	n/a
49	chr14:64108752-64108802	HEK293	kidney:	embryo
50	chr14:64108740-64108790	HCPEpiC	choroid plexus:	n/a

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:64107921..64109795-chr3:185654775..185656596,2	MCF-7	breast:
2	chr14:64108205..64108783-chr3:182697963..182698730,2	HCT-116	colon:
3	chr14:64108268..64108797-chr16:4233149..4233862,2	Hela-S3	cervix:
4	chr14:64108084..64108793-chr6:160113968..160114719,2	Hela-S3	cervix:
5	chr14:64108717..64110650-chr14:64205366..64207933,2	MCF-7	breast:
6	chr14:64106726..64110547-chr14:64191903..64196286,9	MCF-7	breast:
7	chr14:64008001..64011840-chr14:64106623..64112419,9	MCF-7	breast:
8	chr10:102045991..102046624-chr14:64107985..64108915,2	HCT-116	colon:
9	chr14:64106473..64110986-chr14:64192827..64196811,8	MCF-7	breast:
10	chr14:64107471..64110502-chr14:64193160..64196090,4	K562	blood:
11	chr14:64086921..64089569-chr14:64107307..64109779,2	K562	blood:
12	chr14:64107266..64110897-chr14:64115697..64119030,4	MCF-7	breast:
13	chr14:64007697..64011476-chr14:64104829..64109373,5	K562	blood:
14	chr14:64108582..64110148-chr14:64152935..64155136,2	K562	blood:
15	chr14:64108540..64109428-chr19:38794685..38795598,2	Hela-S3	cervix:
16	chr14:64108117..64108970-chr2:85838899..85839638,2	HCT-116	colon:
17	chr14:64008641..64011329-chr14:64106976..64109877,3	K562	blood:
18	chr14:64107471..64110764-chr14:64193160..64196213,5	K562	blood:
19	chr14:64106862..64109084-chr14:64203016..64205646,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SYNE2-3	chr14:64108593-64108915	NONHSAT037310

No data

Variant related genes	Relation type
WDR89	TF binding region
WDR89	CpG island
ENSG00000196072	Chromatin interaction
ENSG00000168883	Chromatin interaction
ENSG00000261242	Chromatin interaction
ENSG00000206822	Chromatin interaction
ENSG00000263105	Chromatin interaction
ENSG00000200693	Chromatin interaction
ENSG00000168887	Chromatin interaction
ENSG00000154001	Chromatin interaction
ENSG00000167644	Chromatin interaction
ENSG00000252749	Chromatin interaction
ENSG00000126821	Chromatin interaction
ENSG00000043093	Chromatin interaction
ENSG00000112096	Chromatin interaction
ENSG00000136527	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10137908	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs11847188	1.00[CEU][hapmap]
rs11847332	1.00[CEU][hapmap]
rs17101315	1.00[CEU][hapmap]
rs2236339	1.00[CEU][hapmap]
rs28373566	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs28594107	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28796021	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs57382236	1.00[EUR][1000 genomes]
rs59574119	1.00[EUR][1000 genomes]
rs60622367	1.00[EUR][1000 genomes]
rs60770727	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61294226	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6573526	0.91[ASW][hapmap];1.00[CEU][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6573527	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7146546	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs7152052	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7154057	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs7154795	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs7155345	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7155351	1.00[CEU][hapmap]
rs73263609	1.00[EUR][1000 genomes]
rs73263615	1.00[EUR][1000 genomes]
rs73263621	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73263701	1.00[EUR][1000 genomes]
rs73265704	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73265710	1.00[EUR][1000 genomes]
rs73265721	1.00[EUR][1000 genomes]
rs73265728	1.00[EUR][1000 genomes]
rs73265735	1.00[EUR][1000 genomes]
rs73265739	1.00[EUR][1000 genomes]
rs73267623	1.00[EUR][1000 genomes]
rs73280648	1.00[EUR][1000 genomes]
rs73280651	1.00[EUR][1000 genomes]
rs8004836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8006499	1.00[CEU][hapmap]
rs8010598	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8012866	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs8018439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8020030	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8020691	1.00[CEU][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv1048645	chr14:64057327-64283872	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64106800-64109600	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr14:64107000-64109000	Active TSS	HepG2	liver
3	chr14:64107000-64109800	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr14:64107000-64110200	Active TSS	K562	blood
5	chr14:64107200-64109400	Active TSS	Primary T cells from cord blood	blood
6	chr14:64107200-64109400	Active TSS	Hela-S3	cervix
7	chr14:64107200-64109600	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr14:64107200-64109600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:64107200-64109600	Active TSS	GM12878-XiMat	blood
10	chr14:64107200-64109800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:64107200-64109800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:64107200-64109800	Active TSS	Fetal Brain Female	brain
13	chr14:64107200-64109800	Active TSS	HSMM	muscle
14	chr14:64107200-64110000	Active TSS	A549	lung
15	chr14:64107400-64109200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:64107400-64109400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:64107400-64109400	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr14:64107400-64109400	Active TSS	Muscle Satellite Cultured Cells	--
19	chr14:64107400-64109400	Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr14:64107400-64109600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr14:64107400-64109600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr14:64107400-64109600	Active TSS	Fetal Intestine Small	intestine
23	chr14:64107400-64109600	Active TSS	Right Ventricle	heart
24	chr14:64107400-64109600	Active TSS	HMEC	breast
25	chr14:64107400-64109800	Active TSS	H1 Cell Line	embryonic stem cell
26	chr14:64107400-64109800	Active TSS	H9 Cell Line	embryonic stem cell
27	chr14:64107400-64109800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr14:64107400-64109800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr14:64107400-64109800	Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr14:64107400-64109800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr14:64107400-64109800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr14:64107400-64109800	Active TSS	Psoas Muscle	Psoas
33	chr14:64107400-64109800	Active TSS	Right Atrium	heart
34	chr14:64107400-64110200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr14:64107600-64109200	Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr14:64107600-64109200	Active TSS	Esophagus	oesophagus
37	chr14:64107600-64109200	Active TSS	Left Ventricle	heart
38	chr14:64107600-64109200	Active TSS	Pancreas	Pancrea
39	chr14:64107600-64109400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr14:64107600-64109400	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr14:64107600-64109400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr14:64107600-64109400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr14:64107600-64109400	Active TSS	Liver	Liver
44	chr14:64107600-64109400	Active TSS	Colon Smooth Muscle	Colon
45	chr14:64107600-64109400	Active TSS	Duodenum Mucosa	Duodenum
46	chr14:64107600-64109400	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr14:64107600-64109400	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr14:64107600-64109400	Active TSS	Rectal Smooth Muscle	rectum
49	chr14:64107600-64109400	Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr14:64107600-64109400	Active TSS	Dnd41	blood

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