Variant report

Variant	rs9455192
Chromosome Location	chr6:71319079-71319080
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:71318943-71319090	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr6:71318990-71319082	A549	lung:	n/a	n/a
3	POLR2A	chr6:71318880-71319219	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr6:71318966-71319098	A549	lung:	n/a	n/a
5	POLR2A	chr6:71318985-71319081	A549	lung:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:71319075-71319125	NH-A	brain:	n/a
2	chr6:71319075-71319125	SKMC	muscle:	n/a
3	chr6:71319075-71319125	AG04450	lung:	fetal
4	chr6:71319075-71319125	NB4	blood:	n/a
5	chr6:71319075-71319125	AG04449	skin:	fetal
6	chr6:71319075-71319125	HCT-116	colon:	n/a
7	chr6:71319075-71319125	GM12891	blood:	n/a
8	chr6:71319075-71319125	RPTEC	kidney:	n/a
9	chr6:71319075-71319125	GM19239	blood:	n/a
10	chr6:71319075-71319125	HCM	heart:	n/a
11	chr6:71319075-71319125	ECC-1	luminal epithelium:	n/a
12	chr6:71319075-71319125	IMR90	lung:	fetal
13	chr6:71319075-71319125	PrEC	prostate:	n/a
14	chr6:71319075-71319125	AG09309	skin:	n/a
15	chr6:71319075-71319125	HCPEpiC	choroid plexus:	n/a
16	chr6:71319075-71319125	Hepatocyte	liver:	n/a
17	chr6:71319075-71319125	HL-60	blood:	n/a
18	chr6:71319075-71319125	HPAEpiC	pulmonary alveolar:	n/a
19	chr6:71319075-71319125	GM12878	blood:	n/a
20	chr6:71319075-71319125	MCF10A-Er-Src	breast:	n/a
21	chr6:71319075-71319125	T-47D	breast:	n/a
22	chr6:71319075-71319125	HRCEpiC	kidney:	n/a
23	chr6:71319075-71319125	LNCaP	prostate:	n/a
24	chr6:71319075-71319125	HCF	heart:	n/a
25	chr6:71319075-71319125	U87	brain:	n/a
26	chr6:71319075-71319125	HEK293	kidney:	embryo
27	chr6:71319075-71319125	HRPEpiC	eye:	n/a
28	chr6:71319075-71319125	PFSK-1	brain:	n/a
29	chr6:71319075-71319125	Jurkat	blood:	n/a
30	chr6:71319075-71319125	K562	blood:	n/a
31	chr6:71319075-71319125	SAEC	small airway:	n/a
32	chr6:71319075-71319125	NHDF-neo	bronchial:	n/a
33	chr6:71319075-71319125	GM12892	blood:	n/a
34	chr6:71319075-71319125	HIPEpiC	eye:	n/a
35	chr6:71319075-71319125	ProgFib	skin:	n/a
36	chr6:71319075-71319125	ovcar-3	ovarian:	n/a
37	chr6:71319075-71319125	Hela-S3	cervix:	n/a
38	chr6:71319075-71319125	MCF-7	breast:	n/a
39	chr6:71319075-71319125	Caco-2	colon:	n/a
40	chr6:71319075-71319125	SK-N-MC	brain:	n/a
41	chr6:71319075-71319125	HepG2	liver:	n/a
42	chr6:71319075-71319125	CMK	blood:	n/a
43	chr6:71319075-71319125	HAEpiC	amniotic membrane:	n/a
44	chr6:71319075-71319125	HUVEC	blood vessel:	n/a
45	chr6:71319075-71319125	HMEC	breast:	n/a
46	chr6:71319075-71319125	A549	lung:	n/a
47	chr6:71319075-71319125	BE2_C	brain:	n/a
48	chr6:71319075-71319125	AG10803	skin:	n/a
49	chr6:71319075-71319125	AoSMC	blood vessel:	n/a
50	chr6:71319075-71319125	PANC-1	pancreas:	n/a

No data

Variant related genes	Relation type
ENSG00000232389	TF binding region
ENSG00000232389	CpG island

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12525566	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12527314	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12527354	0.87[EUR][1000 genomes]
rs12527697	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12528313	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12528681	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12528682	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2691471	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9455191	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1027049	chr6:70961610-71561488	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv524328	chr6:70961833-71558805	Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv917312	chr6:70961903-71601688	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv886147	chr6:71273253-71471863	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv969417	chr6:71317998-71322077	ZNF genes & repeats Enhancers Weak transcription	TF binding region CpG island	1 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	chr6:71319000-71319200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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