Variant report

Variant	rs57705719
Chromosome Location	chr5:79869225-79869226
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:79869215-79869265	AG09319	gingival:	n/a
2	chr5:79869215-79869265	AG04450	lung:	fetal
3	chr5:79869215-79869265	BE2_C	brain:	n/a
4	chr5:79869215-79869265	NHDF-neo	bronchial:	n/a
5	chr5:79869215-79869265	HUVEC	blood vessel:	n/a
6	chr5:79869215-79869265	T-47D	breast:	n/a
7	chr5:79869215-79869265	Hepatocyte	liver:	n/a
8	chr5:79869215-79869265	HCF	heart:	n/a
9	chr5:79869215-79869265	HRCEpiC	kidney:	n/a
10	chr5:79869215-79869265	HEEpiC	esophagus:	n/a
11	chr5:79869215-79869265	HCPEpiC	choroid plexus:	n/a
12	chr5:79869215-79869265	MCF10A-Er-Src	breast:	n/a
13	chr5:79869215-79869265	SK-N-SH	brain:	n/a
14	chr5:79869215-79869265	H1-hESC	embryonic stem cell:	embryo
15	chr5:79869215-79869265	HEK293	kidney:	embryo
16	chr5:79869215-79869265	GM19239	blood:	n/a
17	chr5:79869215-79869265	NB4	blood:	n/a
18	chr5:79869215-79869265	SK-N-SH_RA	brain:	n/a
19	chr5:79869215-79869265	AG10803	skin:	n/a
20	chr5:79869215-79869265	BJ	skin:	n/a
21	chr5:79869215-79869265	NT2-D1	testis:	n/a
22	chr5:79869215-79869265	SKMC	muscle:	n/a
23	chr5:79869215-79869265	ECC-1	luminal epithelium:	n/a
24	chr5:79869215-79869265	GM12892	blood:	n/a
25	chr5:79869215-79869265	MCF-7	breast:	n/a
26	chr5:79869215-79869265	K562	blood:	n/a
27	chr5:79869215-79869265	Caco-2	colon:	n/a
28	chr5:79869215-79869265	HL-60	blood:	n/a
29	chr5:79869215-79869265	GM12878	blood:	n/a
30	chr5:79869215-79869265	HepG2	liver:	n/a
31	chr5:79869215-79869265	Jurkat	blood:	n/a
32	chr5:79869215-79869265	U87	brain:	n/a
33	chr5:79869215-79869265	AG04449	skin:	fetal
34	chr5:79869215-79869265	HPAEpiC	pulmonary alveolar:	n/a
35	chr5:79869215-79869265	IMR90	lung:	fetal
36	chr5:79869215-79869265	Hela-S3	cervix:	n/a
37	chr5:79869215-79869265	PANC-1	pancreas:	n/a
38	chr5:79869215-79869265	HCM	heart:	n/a
39	chr5:79869215-79869265	NHBE	bronchial:	n/a
40	chr5:79869215-79869265	LNCaP	prostate:	n/a
41	chr5:79869215-79869265	HMEC	breast:	n/a
42	chr5:79869215-79869265	NH-A	brain:	n/a
43	chr5:79869215-79869265	CMK	blood:	n/a
44	chr5:79869215-79869265	HCT-116	colon:	n/a
45	chr5:79869215-79869265	PFSK-1	brain:	n/a
46	chr5:79869215-79869265	GM12891	blood:	n/a
47	chr5:79869215-79869265	PrEC	prostate:	n/a
48	chr5:79869215-79869265	SAEC	small airway:	n/a
49	chr5:79869215-79869265	AoSMC	blood vessel:	n/a
50	chr5:79869215-79869265	HAEpiC	amniotic membrane:	n/a

No data

Variant related genes	Relation type
ANKRD34B	CpG island

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs13182894	1.00[ASN][1000 genomes]
rs173442	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2431222	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35878018	1.00[ASN][1000 genomes]
rs393700	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58964772	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366865	0.93[ASN][1000 genomes]
rs62366866	0.93[ASN][1000 genomes]
rs62366869	0.86[AMR][1000 genomes]
rs72765513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs865635	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027183	chr5:79837249-79876229	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1021286	chr5:79844255-79876229	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1025796	chr5:79844255-79880441	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv1034832	chr5:79844255-79892075	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1034384	chr5:79846926-79876229	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1021853	chr5:79847376-79876229	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv1027663	chr5:79855710-79876229	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1020051	chr5:79855710-79879770	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1029820	chr5:79855710-79880441	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv1035021	chr5:79855710-79892075	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1022154	chr5:79855710-79897516	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79869200-79869600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell

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