Variant report

Variant	rs429509
Chromosome Location	chr4:187811135-187811136
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:2)
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	E2F6	chr4:187810085-187811567	H1-hESC	embryonic stem cell:	n/a	chr4:187810361-187810372 chr4:187810662-187810672 chr4:187810381-187810392
2	MAX	chr4:187810194-187811142	H1-hESC	embryonic stem cell:	n/a	chr4:187810705-187810715 chr4:187810706-187810715 chr4:187810707-187810714
3	ZNF263	chr4:187809979-187811169	K562	blood:	n/a	n/a
4	E2F6	chr4:187810089-187811507	H1-hESC	embryonic stem cell:	n/a	chr4:187810361-187810372 chr4:187810662-187810672 chr4:187810381-187810392
5	E2F6	chr4:187810128-187811328	K562	blood:	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	chr4:187811125-187811175	HUVEC	blood vessel:	n/a
2	chr4:187811125-187811175	AG04449	skin:	fetal
3	chr4:187811125-187811175	MCF10A-Er-Src	breast:	n/a
4	chr4:187811125-187811175	AG10803	skin:	n/a
5	chr4:187811125-187811175	AoSMC	blood vessel:	n/a
6	chr4:187811125-187811175	BJ	skin:	n/a
7	chr4:187811125-187811175	Jurkat	blood:	n/a
8	chr4:187811125-187811175	MCF-7	breast:	n/a
9	chr4:187811125-187811175	NHBE	bronchial:	n/a
10	chr4:187811125-187811175	HEK293	kidney:	embryo
11	chr4:187811125-187811175	NHDF-neo	bronchial:	n/a
12	chr4:187811125-187811175	HCT-116	colon:	n/a
13	chr4:187811125-187811175	HRPEpiC	eye:	n/a
14	chr4:187811125-187811175	HNPCEpiC	eye:	n/a
15	chr4:187811125-187811175	PFSK-1	brain:	n/a
16	chr4:187811125-187811175	HEEpiC	esophagus:	n/a
17	chr4:187811125-187811175	NB4	blood:	n/a
18	chr4:187811125-187811175	GM12878	blood:	n/a
19	chr4:187811125-187811175	SK-N-SH	brain:	n/a
20	chr4:187811125-187811175	HMEC	breast:	n/a
21	chr4:187811125-187811175	ovcar-3	ovarian:	n/a
22	chr4:187811125-187811175	CMK	blood:	n/a
23	chr4:187811125-187811175	AG04450	lung:	fetal
24	chr4:187811125-187811175	HepG2	liver:	n/a
25	chr4:187811125-187811175	PANC-1	pancreas:	n/a
26	chr4:187811125-187811175	U87	brain:	n/a
27	chr4:187811125-187811175	RPTEC	kidney:	n/a
28	chr4:187811125-187811175	NH-A	brain:	n/a
29	chr4:187811125-187811175	HRCEpiC	kidney:	n/a
30	chr4:187811125-187811175	GM19239	blood:	n/a
31	chr4:187811125-187811175	A549	lung:	n/a
32	chr4:187811125-187811175	Hela-S3	cervix:	n/a
33	chr4:187811125-187811175	K562	blood:	n/a
34	chr4:187811125-187811175	HCF	heart:	n/a
35	chr4:187811125-187811175	LNCaP	prostate:	n/a
36	chr4:187811125-187811175	AG09319	gingival:	n/a
37	chr4:187811125-187811175	T-47D	breast:	n/a
38	chr4:187811125-187811175	SAEC	small airway:	n/a
39	chr4:187811125-187811175	Hepatocyte	liver:	n/a
40	chr4:187811125-187811175	HAEpiC	amniotic membrane:	n/a
41	chr4:187811125-187811175	HCPEpiC	choroid plexus:	n/a
42	chr4:187811125-187811175	H1-hESC	embryonic stem cell:	embryo
43	chr4:187811125-187811175	HRE	kidney:	n/a
44	chr4:187811125-187811175	BE2_C	brain:	n/a
45	chr4:187811125-187811175	PrEC	prostate:	n/a
46	chr4:187811125-187811175	GM12891	blood:	n/a
47	chr4:187811125-187811175	SK-N-SH_RA	brain:	n/a
48	chr4:187811125-187811175	HPAEpiC	pulmonary alveolar:	n/a
49	chr4:187811125-187811175	GM06990	blood:	n/a
50	chr4:187811125-187811175	SKMC	muscle:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:187765177..187771006-chr4:187807000..187811310,9	K562	blood:
2	chr4:187765177..187768069-chr4:187809539..187811310,3	K562	blood:

No data

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

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11132415	1.00[ASN][1000 genomes]
rs11132416	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1431927	0.84[ASN][1000 genomes]
rs167721	0.84[ASN][1000 genomes]
rs1835748	0.84[ASN][1000 genomes]
rs2241672	0.83[ASN][1000 genomes]
rs322410	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs322412	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs443846	0.84[ASN][1000 genomes]
rs4861728	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4862740	0.91[EUR][1000 genomes]
rs4862741	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58176956	0.95[ASN][1000 genomes]
rs59618202	0.83[ASN][1000 genomes]
rs60226958	0.83[ASN][1000 genomes]
rs60326187	0.95[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	chr4:187808800-187811200	Active TSS	K562	blood
4	chr4:187811000-187811200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr4:187811000-187811600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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