Variant report

Variant	rs16858119
Chromosome Location	chr3:111194974-111194975
allele	A/C
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	chr3:111194931-111194981	NHBE	bronchial:	n/a
2	chr3:111194931-111194981	HAEpiC	amniotic membrane:	n/a
3	chr3:111194931-111194981	GM12878	blood:	n/a
4	chr3:111194931-111194981	ovcar-3	ovarian:	n/a
5	chr3:111194931-111194981	NH-A	brain:	n/a
6	chr3:111194931-111194981	HEK293	kidney:	embryo
7	chr3:111194931-111194981	BJ	skin:	n/a
8	chr3:111194931-111194981	RPTEC	kidney:	n/a
9	chr3:111194931-111194981	HIPEpiC	eye:	n/a
10	chr3:111194931-111194981	T-47D	breast:	n/a
11	chr3:111194931-111194981	MCF-7	breast:	n/a
12	chr3:111194931-111194981	H1-hESC	embryonic stem cell:	embryo
13	chr3:111194931-111194981	HEEpiC	esophagus:	n/a
14	chr3:111194931-111194981	BE2_C	brain:	n/a
15	chr3:111194931-111194981	AoSMC	blood vessel:	n/a
16	chr3:111194931-111194981	HCF	heart:	n/a
17	chr3:111194931-111194981	NT2-D1	testis:	n/a
18	chr3:111194931-111194981	SK-N-SH_RA	brain:	n/a
19	chr3:111194931-111194981	Caco-2	colon:	n/a
20	chr3:111194931-111194981	AG09309	skin:	n/a
21	chr3:111194931-111194981	HPAEpiC	pulmonary alveolar:	n/a
22	chr3:111194931-111194981	PANC-1	pancreas:	n/a
23	chr3:111194931-111194981	HMEC	breast:	n/a
24	chr3:111194931-111194981	NHDF-neo	bronchial:	n/a
25	chr3:111194931-111194981	SAEC	small airway:	n/a
26	chr3:111194931-111194981	Hepatocyte	liver:	n/a
27	chr3:111194931-111194981	HRCEpiC	kidney:	n/a
28	chr3:111194931-111194981	GM12892	blood:	n/a
29	chr3:111194931-111194981	PFSK-1	brain:	n/a
30	chr3:111194931-111194981	HCPEpiC	choroid plexus:	n/a
31	chr3:111194931-111194981	MCF10A-Er-Src	breast:	n/a
32	chr3:111194931-111194981	GM12891	blood:	n/a
33	chr3:111194931-111194981	GM06990	blood:	n/a
34	chr3:111194931-111194981	SK-N-SH	brain:	n/a
35	chr3:111194931-111194981	ECC-1	luminal epithelium:	n/a
36	chr3:111194931-111194981	SKMC	muscle:	n/a
37	chr3:111194931-111194981	SK-N-MC	brain:	n/a
38	chr3:111194931-111194981	NB4	blood:	n/a
39	chr3:111194931-111194981	IMR90	lung:	fetal
40	chr3:111194931-111194981	PrEC	prostate:	n/a
41	chr3:111194931-111194981	K562	blood:	n/a
42	chr3:111194931-111194981	HCT-116	colon:	n/a
43	chr3:111194931-111194981	AG04450	lung:	fetal
44	chr3:111194931-111194981	HRPEpiC	eye:	n/a
45	chr3:111194931-111194981	U87	brain:	n/a
46	chr3:111194931-111194981	HepG2	liver:	n/a
47	chr3:111194931-111194981	AG04449	skin:	fetal
48	chr3:111194931-111194981	AG09319	gingival:	n/a
49	chr3:111194931-111194981	ProgFib	skin:	n/a
50	chr3:111194931-111194981	AG10803	skin:	n/a

No data

Variant related genes	Relation type
ATP6V0CP2	CpG island

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10511296	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10511297	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11720440	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13059063	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1498000	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1498001	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17202754	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17281269	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55896841	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62273476	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62273477	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62273520	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6437989	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6783068	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9829839	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap]
rs9863051	0.95[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111192000-111195200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr3:111192600-111195200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:111192600-111195200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr3:111192800-111195200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr3:111192800-111196000	Weak transcription	Ovary	ovary

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