Variant report

Variant	rs8018194
Chromosome Location	chr14:64108348-64108349
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:623)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:623 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:64108077-64108400	A549	lung:	n/a	n/a
2	ZC3H11A	chr14:64108175-64108459	K562	blood:	n/a	n/a
3	POLR2A	chr14:64107867-64109296	H1-hESC	embryonic stem cell:	n/a	n/a
4	POU2F2	chr14:64108027-64108678	GM12878	blood:	n/a	n/a
5	RAD21	chr14:64107871-64109458	Hela-S3	cervix:	n/a	chr14:64108332-64108341
6	GATA3	chr14:64108068-64108791	T-47D	breast:	n/a	n/a
7	BCL11A	chr14:64108068-64108502	GM12878	blood:	n/a	n/a
8	CTCF	chr14:64108200-64108350	Caco-2	colon:	n/a	n/a
9	SPI1	chr14:64108287-64108493	K562	blood:	n/a	n/a
10	CTCF	chr14:64107843-64108673	MCF-7	breast:	n/a	n/a
11	ELF1	chr14:64107902-64109632	HCT-116	colon:	n/a	chr14:64108800-64108813
12	ZNF143	chr14:64108007-64109482	GM12878	blood:	n/a	chr14:64109194-64109212 chr14:64109201-64109210 chr14:64109203-64109212
13	MTA3	chr14:64107739-64109465	GM12878	blood:	n/a	n/a
14	CTCF	chr14:64107986-64108484	A549	lung:	n/a	n/a
15	TAF1	chr14:64108032-64108381	SK-N-SH	brain:	n/a	n/a
16	FOXA1	chr14:64108083-64108942	T-47D	breast:	n/a	n/a
17	TAF1	chr14:64107826-64109302	A549	lung:	n/a	n/a
18	POLR2A	chr14:64107903-64109455	GM12878	blood:	n/a	n/a
19	SMC3	chr14:64108057-64108391	K562	blood:	n/a	chr14:64108334-64108341
20	CTCF	chr14:64108153-64108379	LNCaP	prostate:	n/a	n/a
21	NR3C1	chr14:64108182-64108602	A549	lung:	n/a	chr14:64108389-64108402
22	ZBTB33	chr14:64108290-64108491	HepG2	liver:	n/a	chr14:64108406-64108421
23	CREB1	chr14:64108094-64109463	ECC-1	luminal epithelium:	n/a	n/a
24	MXI1	chr14:64107990-64109409	HepG2	liver:	n/a	n/a
25	PAX5	chr14:64108233-64108852	GM12891	blood:	n/a	chr14:64108678-64108697
26	ZBTB33	chr14:64108156-64108707	HCT-116	colon:	n/a	chr14:64108406-64108421
27	CHD1	chr14:64107797-64108551	GM12878	blood:	n/a	n/a
28	TAF1	chr14:64108102-64108574	GM12878	blood:	n/a	n/a
29	MYC	chr14:64108124-64109308	K562	blood:	n/a	chr14:64108365-64108372
30	PML	chr14:64108060-64109343	MCF-7	breast:	n/a	n/a
31	CTCF	chr14:64108067-64108396	A549	lung:	n/a	n/a
32	ZBTB33	chr14:64108116-64108624	GM12878	blood:	n/a	chr14:64108406-64108421
33	SIN3AK20	chr14:64107750-64109541	MCF-7	breast:	n/a	n/a
34	GABPA	chr14:64107996-64109442	MCF-7	breast:	n/a	n/a
35	YY1	chr14:64108083-64109265	GM12892	blood:	n/a	chr14:64108553-64108567
36	CEBPB	chr14:64107954-64108926	A549	lung:	n/a	n/a
37	CTCF	chr14:64108097-64108413	GM12878	blood:	n/a	n/a
38	ELK1	chr14:64108147-64109398	K562	blood:	n/a	n/a
39	USF1	chr14:64108168-64108866	ECC-1	luminal epithelium:	n/a	n/a
40	EGR1	chr14:64108260-64108982	GM12878	blood:	n/a	n/a
41	MXI1	chr14:64107855-64109285	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr14:64108069-64108976	A549	lung:	n/a	n/a
43	PML	chr14:64108043-64109175	K562	blood:	n/a	n/a
44	CBX3	chr14:64108046-64109211	K562	blood:	n/a	n/a
45	REST	chr14:64108241-64108420	GM12878	blood:	n/a	n/a
46	JUND	chr14:64107941-64109460	HepG2	liver:	n/a	n/a
47	PAX5	chr14:64108260-64108775	GM12892	blood:	n/a	chr14:64108678-64108697
48	POLR2A	chr14:64107870-64109306	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr14:64108200-64108350	GM12872	blood:	n/a	n/a
50	EP300	chr14:64107888-64109447	GM12878	blood:	n/a	n/a

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:64108031..64108644-chr20:30194499..30195251,2	Hela-S3	cervix:
2	chr14:64107921..64109795-chr3:185654775..185656596,2	MCF-7	breast:
3	chr14:64108205..64108783-chr3:182697963..182698730,2	HCT-116	colon:
4	chr14:64108268..64108797-chr16:4233149..4233862,2	Hela-S3	cervix:
5	chr14:64108084..64108793-chr6:160113968..160114719,2	Hela-S3	cervix:
6	chr14:60558152..60559111-chr14:64107985..64108646,3	Hela-S3	cervix:
7	chr14:64106726..64110547-chr14:64191903..64196286,9	MCF-7	breast:
8	chr14:64008001..64011840-chr14:64106623..64112419,9	MCF-7	breast:
9	chr11:47291041..47291549-chr14:64107986..64108722,2	Hela-S3	cervix:
10	chr10:102045991..102046624-chr14:64107985..64108915,2	HCT-116	colon:
11	chr14:64107754..64108531-chr3:169482408..169482909,2	Hela-S3	cervix:
12	chr14:64106963..64108650-chr14:64199883..64202307,2	MCF-7	breast:
13	chr14:64106473..64110986-chr14:64192827..64196811,8	MCF-7	breast:
14	chr12:27676449..27677387-chr14:64107984..64108583,2	NB4	blood:
15	chr14:64107471..64110502-chr14:64193160..64196090,4	K562	blood:
16	chr14:64086921..64089569-chr14:64107307..64109779,2	K562	blood:
17	chr14:64107266..64110897-chr14:64115697..64119030,4	MCF-7	breast:
18	chr14:64007697..64011476-chr14:64104829..64109373,5	K562	blood:
19	chr14:64108117..64108970-chr2:85838899..85839638,2	HCT-116	colon:
20	chr14:64008641..64011329-chr14:64106976..64109877,3	K562	blood:
21	chr14:64107471..64110764-chr14:64193160..64196213,5	K562	blood:
22	chr14:64106862..64109084-chr14:64203016..64205646,2	MCF-7	breast:

No data

Variant related genes	Relation type
WDR89	TF binding region
ENSG00000200693	Chromatin interaction
ENSG00000043093	Chromatin interaction
ENSG00000263105	Chromatin interaction
ENSG00000136527	Chromatin interaction
ENSG00000270141	Chromatin interaction
ENSG00000252749	Chromatin interaction
ENSG00000264395	Chromatin interaction
ENSG00000154001	Chromatin interaction
ENSG00000126773	Chromatin interaction
ENSG00000112096	Chromatin interaction
ENSG00000258553	Chromatin interaction
ENSG00000126821	Chromatin interaction
ENSG00000206822	Chromatin interaction
ENSG00000196072	Chromatin interaction
ENSG00000168883	Chromatin interaction
ENSG00000261242	Chromatin interaction
ENSG00000110841	Chromatin interaction
ENSG00000168887	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000258778	Chromatin interaction

Extended variants
information (count: 113 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10498511	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158497	0.83[EUR][1000 genomes]
rs11158502	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158503	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158504	0.83[EUR][1000 genomes]
rs11158506	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11844499	0.87[EUR][1000 genomes]
rs11845405	0.87[EUR][1000 genomes]
rs11845471	0.83[EUR][1000 genomes]
rs11845514	0.87[EUR][1000 genomes]
rs11845765	0.83[EUR][1000 genomes]
rs11846081	0.96[EUR][1000 genomes]
rs11847033	0.83[EUR][1000 genomes]
rs11847188	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11847332	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11849082	0.83[EUR][1000 genomes]
rs11850853	0.84[EUR][1000 genomes]
rs12147926	0.91[EUR][1000 genomes]
rs17101346	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17101348	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17101355	0.96[EUR][1000 genomes]
rs17101371	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17101374	0.87[EUR][1000 genomes]
rs2031941	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742622	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4346121	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55665448	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55706628	0.96[EUR][1000 genomes]
rs55758170	0.87[EUR][1000 genomes]
rs55763522	0.91[EUR][1000 genomes]
rs55797516	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55874427	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55919053	0.83[EUR][1000 genomes]
rs56021364	0.87[EUR][1000 genomes]
rs56051693	0.83[EUR][1000 genomes]
rs56060943	0.87[EUR][1000 genomes]
rs56094435	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56105514	0.83[EUR][1000 genomes]
rs56113838	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56169803	0.87[EUR][1000 genomes]
rs56247501	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56280069	0.83[EUR][1000 genomes]
rs56301550	0.87[EUR][1000 genomes]
rs56342043	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56388534	0.83[EUR][1000 genomes]
rs56858295	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56973820	0.96[EUR][1000 genomes]
rs59420981	0.83[EUR][1000 genomes]
rs61692440	0.91[EUR][1000 genomes]
rs61984029	0.83[EUR][1000 genomes]
rs61984031	0.87[EUR][1000 genomes]
rs61984033	0.87[EUR][1000 genomes]
rs61984036	0.87[EUR][1000 genomes]
rs61984044	0.83[EUR][1000 genomes]
rs61984045	0.87[EUR][1000 genomes]
rs61984046	0.87[EUR][1000 genomes]
rs61984048	0.87[EUR][1000 genomes]
rs61984051	0.91[EUR][1000 genomes]
rs61984055	0.87[EUR][1000 genomes]
rs61985669	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985670	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985671	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985672	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985674	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985677	0.96[EUR][1000 genomes]
rs61985680	0.96[EUR][1000 genomes]
rs61985681	0.96[EUR][1000 genomes]
rs61985682	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61985687	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61985689	0.96[EUR][1000 genomes]
rs61985690	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985691	0.87[EUR][1000 genomes]
rs6573528	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573529	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7141460	0.96[EUR][1000 genomes]
rs7142737	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144490	0.81[EUR][1000 genomes]
rs7148755	0.96[EUR][1000 genomes]
rs7149625	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154718	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154795	1.00[ASN][1000 genomes]
rs7154883	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7155351	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7156219	0.87[EUR][1000 genomes]
rs7156468	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7157815	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73263634	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73263671	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73263676	0.91[EUR][1000 genomes]
rs73265705	0.96[EUR][1000 genomes]
rs73265710	1.00[ASN][1000 genomes]
rs73265719	0.83[EUR][1000 genomes]
rs73265728	1.00[ASN][1000 genomes]
rs73265743	0.83[EUR][1000 genomes]
rs73267621	0.87[EUR][1000 genomes]
rs8003077	0.87[EUR][1000 genomes]
rs8003101	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003314	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8006901	0.87[EUR][1000 genomes]
rs8010642	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8013242	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8017282	0.91[EUR][1000 genomes]
rs8017835	0.96[EUR][1000 genomes]
rs8018034	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018382	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018872	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8019280	0.96[EUR][1000 genomes]
rs8020833	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8020893	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9671362	0.96[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	chr14:64106600-64108400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr14:64106800-64109600	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr14:64107000-64109000	Active TSS	HepG2	liver
4	chr14:64107000-64109800	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr14:64107000-64110200	Active TSS	K562	blood
6	chr14:64107200-64108600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr14:64107200-64109400	Active TSS	Primary T cells from cord blood	blood
8	chr14:64107200-64109400	Active TSS	Hela-S3	cervix
9	chr14:64107200-64109600	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr14:64107200-64109600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:64107200-64109600	Active TSS	GM12878-XiMat	blood
12	chr14:64107200-64109800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:64107200-64109800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:64107200-64109800	Active TSS	Fetal Brain Female	brain
15	chr14:64107200-64109800	Active TSS	HSMM	muscle
16	chr14:64107200-64110000	Active TSS	A549	lung
17	chr14:64107400-64109200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:64107400-64109400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:64107400-64109400	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr14:64107400-64109400	Active TSS	Muscle Satellite Cultured Cells	--
21	chr14:64107400-64109400	Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr14:64107400-64109600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:64107400-64109600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:64107400-64109600	Active TSS	Fetal Intestine Small	intestine
25	chr14:64107400-64109600	Active TSS	Right Ventricle	heart
26	chr14:64107400-64109600	Active TSS	HMEC	breast
27	chr14:64107400-64109800	Active TSS	H1 Cell Line	embryonic stem cell
28	chr14:64107400-64109800	Active TSS	H9 Cell Line	embryonic stem cell
29	chr14:64107400-64109800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr14:64107400-64109800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr14:64107400-64109800	Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr14:64107400-64109800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr14:64107400-64109800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr14:64107400-64109800	Active TSS	Psoas Muscle	Psoas
35	chr14:64107400-64109800	Active TSS	Right Atrium	heart
36	chr14:64107400-64110200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr14:64107600-64108400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr14:64107600-64109200	Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr14:64107600-64109200	Active TSS	Esophagus	oesophagus
40	chr14:64107600-64109200	Active TSS	Left Ventricle	heart
41	chr14:64107600-64109200	Active TSS	Pancreas	Pancrea
42	chr14:64107600-64109400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr14:64107600-64109400	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr14:64107600-64109400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr14:64107600-64109400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr14:64107600-64109400	Active TSS	Liver	Liver
47	chr14:64107600-64109400	Active TSS	Colon Smooth Muscle	Colon
48	chr14:64107600-64109400	Active TSS	Duodenum Mucosa	Duodenum
49	chr14:64107600-64109400	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr14:64107600-64109400	Active TSS	Pancreatic Islets	Pancreatic Islet

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