Variant report

Variant	rs2985914
Chromosome Location	chr14:55662255-55662256
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:55662180-55662330	MCF-7	breast:	n/a	n/a
2	CTCF	chr14:55662200-55662272	GM19239	blood:	n/a	n/a
3	CTCF	chr14:55662149-55662305	MCF-7	breast:	n/a	n/a
4	CTCF	chr14:55662163-55662291	MCF-7	breast:	n/a	n/a
5	MYC	chr14:55662197-55662313	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr14:55662149-55662329	MCF-7	breast:	n/a	n/a
7	CTCF	chr14:55662205-55662269	GM12892	blood:	n/a	n/a
8	ZNF143	chr14:55662129-55662341	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr14:55662150-55662319	MCF-7	breast:	n/a	n/a
10	CTCF	chr14:55662169-55662285	MCF-7	breast:	n/a	n/a
11	CTCF	chr14:55662192-55662269	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:55662245..55664403-chr14:55736553..55739431,2	K562	blood:

No data

Variant related genes	Relation type
DLGAP5	TF binding region
ENSG00000258413	Chromatin interaction
ENSG00000178974	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10139912	0.91[ASN][1000 genomes]
rs10144869	0.97[ASN][1000 genomes]
rs10483640	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10498474	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11845802	0.83[EUR][1000 genomes]
rs11850516	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11851023	0.97[ASN][1000 genomes]
rs11851945	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12323804	0.97[ASN][1000 genomes]
rs13379420	0.94[ASN][1000 genomes]
rs17128230	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17128262	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17128275	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17128277	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17128292	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17128303	0.97[ASN][1000 genomes]
rs17128323	0.97[ASN][1000 genomes]
rs1886784	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1887494	0.87[ASN][1000 genomes]
rs1952086	0.80[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2075598	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2274272	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28408795	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28883964	0.97[ASN][1000 genomes]
rs3759666	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4334208	0.94[ASN][1000 genomes]
rs55772085	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55848305	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55912862	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56192604	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56358335	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57064758	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57196783	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57612384	0.97[ASN][1000 genomes]
rs57750925	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59155162	0.97[ASN][1000 genomes]
rs59700273	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60023093	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs60204830	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs60715972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6573004	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7141563	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7141706	0.91[ASN][1000 genomes]
rs7142831	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7145502	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7147172	0.97[ASN][1000 genomes]
rs7147666	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7148957	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7148959	0.83[EUR][1000 genomes]
rs7152543	0.86[EUR][1000 genomes]
rs7153322	0.86[EUR][1000 genomes]
rs7153418	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7153958	0.97[ASN][1000 genomes]
rs7154368	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7155704	0.97[ASN][1000 genomes]
rs7155729	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7155936	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7157585	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7159530	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7160411	0.91[ASN][1000 genomes]
rs7160575	0.92[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7160642	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7160753	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7161502	0.82[AFR][1000 genomes]
rs74050920	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs74050921	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs74050928	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs74050932	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74050937	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs74050939	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs74050958	0.97[ASN][1000 genomes]
rs74050963	0.89[ASN][1000 genomes]
rs8005218	0.86[EUR][1000 genomes]
rs8009009	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8009060	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8010751	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8010791	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8010993	0.93[AFR][1000 genomes]
rs8011980	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8016444	0.97[ASN][1000 genomes]
rs8016716	0.97[ASN][1000 genomes]
rs8017821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035158	chr14:55638386-55684228	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55658800-55662400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:55659000-55662400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr14:55659000-55663200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:55659200-55668000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:55661800-55662600	Enhancers	HSMMtube	muscle
6	chr14:55662000-55662400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:55662000-55662400	Enhancers	HepG2	liver
8	chr14:55662200-55662400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr14:55662200-55662600	Strong transcription	Aorta	Aorta
10	chr14:55662200-55667200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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