Variant report

Variant	rs9934993
Chromosome Location	chr16:34209254-34209255
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	chr16:34209247-34209297	AG04449	skin:	fetal
2	chr16:34209247-34209297	BJ	skin:	n/a
3	chr16:34209247-34209297	A549	lung:	n/a
4	chr16:34209247-34209297	Hepatocyte	liver:	n/a
5	chr16:34209247-34209297	SK-N-MC	brain:	n/a
6	chr16:34209247-34209297	GM12892	blood:	n/a
7	chr16:34209247-34209297	HCT-116	colon:	n/a
8	chr16:34209247-34209297	K562	blood:	n/a
9	chr16:34209247-34209297	HRCEpiC	kidney:	n/a
10	chr16:34209247-34209297	HAEpiC	amniotic membrane:	n/a
11	chr16:34209247-34209297	PFSK-1	brain:	n/a
12	chr16:34209247-34209297	NB4	blood:	n/a
13	chr16:34209247-34209297	HCF	heart:	n/a
14	chr16:34209247-34209297	CMK	blood:	n/a
15	chr16:34209247-34209297	Hela-S3	cervix:	n/a
16	chr16:34209247-34209297	BE2_C	brain:	n/a
17	chr16:34209247-34209297	AG10803	skin:	n/a
18	chr16:34209247-34209297	GM06990	blood:	n/a
19	chr16:34209247-34209297	NHBE	bronchial:	n/a
20	chr16:34209247-34209297	Caco-2	colon:	n/a
21	chr16:34209247-34209297	HUVEC	blood vessel:	n/a
22	chr16:34209247-34209297	RPTEC	kidney:	n/a
23	chr16:34209247-34209297	NHDF-neo	bronchial:	n/a
24	chr16:34209247-34209297	MCF10A-Er-Src	breast:	n/a
25	chr16:34209247-34209297	HPAEpiC	pulmonary alveolar:	n/a
26	chr16:34209247-34209297	HCM	heart:	n/a
27	chr16:34209247-34209297	T-47D	breast:	n/a
28	chr16:34209247-34209297	U87	brain:	n/a
29	chr16:34209247-34209297	AG09309	skin:	n/a
30	chr16:34209247-34209297	MCF-7	breast:	n/a
31	chr16:34209247-34209297	LNCaP	prostate:	n/a
32	chr16:34209247-34209297	AG09319	gingival:	n/a
33	chr16:34209247-34209297	H1-hESC	embryonic stem cell:	embryo
34	chr16:34209247-34209297	IMR90	lung:	fetal
35	chr16:34209247-34209297	GM12878	blood:	n/a
36	chr16:34209247-34209297	NT2-D1	testis:	n/a
37	chr16:34209247-34209297	AoSMC	blood vessel:	n/a
38	chr16:34209247-34209297	NH-A	brain:	n/a
39	chr16:34209247-34209297	Jurkat	blood:	n/a
40	chr16:34209247-34209297	HEEpiC	esophagus:	n/a
41	chr16:34209247-34209297	HepG2	liver:	n/a
42	chr16:34209247-34209297	SAEC	small airway:	n/a
43	chr16:34209247-34209297	SKMC	muscle:	n/a
44	chr16:34209247-34209297	HL-60	blood:	n/a
45	chr16:34209247-34209297	ProgFib	skin:	n/a
46	chr16:34209247-34209297	GM12891	blood:	n/a
47	chr16:34209247-34209297	GM19239	blood:	n/a
48	chr16:34209247-34209297	ECC-1	luminal epithelium:	n/a
49	chr16:34209247-34209297	HIPEpiC	eye:	n/a
50	chr16:34209247-34209297	ovcar-3	ovarian:	n/a

No data

Variant related genes	Relation type
ENSG00000261331	CpG island

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11149539	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12598235	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12599975	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1865388	0.83[EUR][1000 genomes]
rs1982118	1.00[CEU][hapmap];0.85[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2170422	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449091	0.83[EUR][1000 genomes]
rs2623779	1.00[CEU][hapmap];0.91[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2623786	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2623789	0.83[EUR][1000 genomes]
rs2630995	0.83[EUR][1000 genomes]
rs2630996	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2631000	0.83[EUR][1000 genomes]
rs281589	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs281591	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs281592	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs281593	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs281594	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs281595	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs281598	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs281612	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs385974	1.00[CEU][hapmap];0.92[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs409110	1.00[CEU][hapmap];0.84[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57998501	0.83[EUR][1000 genomes]
rs58636981	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59344183	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6420378	0.83[EUR][1000 genomes]
rs6563859	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6563860	0.83[EUR][1000 genomes]
rs6563883	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7186269	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7187424	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7205899	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7206496	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs7206817	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs7404355	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7404459	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7404474	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8053695	1.00[CEU][hapmap]
rs8056977	0.83[EUR][1000 genomes]
rs8057484	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8063210	0.83[EUR][1000 genomes]
rs9925286	0.83[EUR][1000 genomes]
rs9936279	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1823144	chr16:33673394-34211708	ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	esv32538	chr16:33935506-34459464	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
3	nsv431453	chr16:33940200-34760967	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
4	nsv542904	chr16:33942289-34427860	ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	esv3336957	chr16:33946491-34387916	ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv906654	chr16:34176875-34320353	ZNF genes & repeats Weak transcription Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv906655	chr16:34176875-34597156	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
8	nsv1061110	chr16:34197339-34304555	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1066136	chr16:34197339-34434323	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv1064842	chr16:34197339-34472275	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
11	nsv1063819	chr16:34197339-34492332	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
12	nsv1056658	chr16:34197339-34682514	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
13	nsv917674	chr16:34201887-34682588	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
14	nsv1067686	chr16:34202088-35147508	ZNF genes & repeats Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
15	nsv532260	chr16:34202088-35147508	Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:34208200-34211000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr16:34208600-34209600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:34208600-34210000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin

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