Variant report

Variant	rs10009446
Chromosome Location	chr4:187811474-187811475
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr4:187810085-187811567	H1-hESC	embryonic stem cell:	n/a	chr4:187810361-187810372 chr4:187810662-187810672 chr4:187810381-187810392
2	E2F6	chr4:187810089-187811507	H1-hESC	embryonic stem cell:	n/a	chr4:187810361-187810372 chr4:187810662-187810672 chr4:187810381-187810392

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:187811461-187811511	ProgFib	skin:	n/a
2	chr4:187811461-187811511	Jurkat	blood:	n/a
3	chr4:187811461-187811511	Caco-2	colon:	n/a
4	chr4:187811461-187811511	HAEpiC	amniotic membrane:	n/a
5	chr4:187811461-187811511	HCT-116	colon:	n/a
6	chr4:187811461-187811511	A549	lung:	n/a
7	chr4:187811461-187811511	HepG2	liver:	n/a
8	chr4:187811461-187811511	GM19239	blood:	n/a
9	chr4:187811461-187811511	MCF-7	breast:	n/a
10	chr4:187811461-187811511	HRCEpiC	kidney:	n/a
11	chr4:187811461-187811511	H1-hESC	embryonic stem cell:	embryo
12	chr4:187811461-187811511	AG04450	lung:	fetal
13	chr4:187811461-187811511	U87	brain:	n/a
14	chr4:187811461-187811511	HL-60	blood:	n/a
15	chr4:187811461-187811511	HCPEpiC	choroid plexus:	n/a
16	chr4:187811461-187811511	HEEpiC	esophagus:	n/a
17	chr4:187811461-187811511	IMR90	lung:	fetal
18	chr4:187811461-187811511	SK-N-SH_RA	brain:	n/a
19	chr4:187811461-187811511	NT2-D1	testis:	n/a
20	chr4:187811461-187811511	MCF10A-Er-Src	breast:	n/a
21	chr4:187811461-187811511	NB4	blood:	n/a
22	chr4:187811461-187811511	HNPCEpiC	eye:	n/a
23	chr4:187811461-187811511	PFSK-1	brain:	n/a
24	chr4:187811461-187811511	T-47D	breast:	n/a
25	chr4:187811461-187811511	AG10803	skin:	n/a
26	chr4:187811461-187811511	HCM	heart:	n/a
27	chr4:187811461-187811511	SAEC	small airway:	n/a
28	chr4:187811461-187811511	HRE	kidney:	n/a
29	chr4:187811461-187811511	Hela-S3	cervix:	n/a
30	chr4:187811461-187811511	NH-A	brain:	n/a
31	chr4:187811461-187811511	CMK	blood:	n/a
32	chr4:187811461-187811511	HIPEpiC	eye:	n/a
33	chr4:187811461-187811511	AG09319	gingival:	n/a
34	chr4:187811461-187811511	K562	blood:	n/a
35	chr4:187811461-187811511	Hepatocyte	liver:	n/a
36	chr4:187811461-187811511	PrEC	prostate:	n/a
37	chr4:187811461-187811511	HCF	heart:	n/a
38	chr4:187811461-187811511	RPTEC	kidney:	n/a
39	chr4:187811461-187811511	AG09309	skin:	n/a
40	chr4:187811461-187811511	GM12892	blood:	n/a
41	chr4:187811461-187811511	SK-N-MC	brain:	n/a
42	chr4:187811461-187811511	PANC-1	pancreas:	n/a
43	chr4:187811461-187811511	HEK293	kidney:	embryo
44	chr4:187811461-187811511	AG04449	skin:	fetal
45	chr4:187811461-187811511	NHDF-neo	bronchial:	n/a
46	chr4:187811461-187811511	GM12878	blood:	n/a
47	chr4:187811461-187811511	HRPEpiC	eye:	n/a
48	chr4:187811461-187811511	BE2_C	brain:	n/a
49	chr4:187811461-187811511	HPAEpiC	pulmonary alveolar:	n/a
50	chr4:187811461-187811511	ovcar-3	ovarian:	n/a

No data

Variant related genes	Relation type
ENSG00000272218	TF binding region
ENSG00000250829	TF binding region
ENSG00000272218	CpG island
ENSG00000250829	CpG island

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10021059	1.00[ASN][1000 genomes]
rs10033282	1.00[ASN][1000 genomes]
rs11933074	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11939368	1.00[ASN][1000 genomes]
rs11943620	0.95[AFR][1000 genomes]
rs28374782	1.00[ASN][1000 genomes]
rs28412794	1.00[ASN][1000 genomes]
rs28417286	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28615794	1.00[ASN][1000 genomes]
rs28712755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28726133	1.00[ASN][1000 genomes]
rs35408866	1.00[ASN][1000 genomes]
rs56078302	1.00[ASN][1000 genomes]
rs58728315	0.95[AFR][1000 genomes]
rs73876336	1.00[ASN][1000 genomes]
rs73876339	1.00[ASN][1000 genomes]
rs9992417	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025244	chr4:187419770-188284813	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv1034212	chr4:187437895-188030805	Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv537438	chr4:187437895-188030805	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv532745	chr4:187471692-188205443	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1022262	chr4:187475862-187848284	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1024705	chr4:187534005-187849091	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1026970	chr4:187537418-187913351	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv596440	chr4:187538133-187848075	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1031603	chr4:187636716-188020741	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv880401	chr4:187668795-188047143	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv1015893	chr4:187768295-188338413	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv537441	chr4:187768295-188338413	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	nsv525720	chr4:187792665-188426129	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr4:187804000-187812400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:187808200-187821400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:187811000-187811600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:187811200-187821400	Weak transcription	K562	blood
5	chr4:187811400-187811600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin

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