Variant report

Variant	rs9949154
Chromosome Location	chr18:11494243-11494244
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HNF4A	chr18:11494119-11494430	HepG2	liver:	n/a	n/a
2	HNF4G	chr18:11494154-11494366	HepG2	liver:	n/a	n/a
3	FOXA1	chr18:11494151-11494427	HepG2	liver:	n/a	n/a
4	FOS	chr18:11494102-11494543	HUVEC	blood vessel:	n/a	n/a
5	TEAD4	chr18:11493995-11494582	HepG2	liver:	n/a	n/a
6	FOXA1	chr18:11494021-11494497	HepG2	liver:	n/a	n/a
7	JUN	chr18:11494172-11494471	HepG2	liver:	n/a	n/a
8	EP300	chr18:11494048-11494408	HepG2	liver:	n/a	n/a
9	FOSL2	chr18:11494105-11494462	HepG2	liver:	n/a	n/a
10	RCOR1	chr18:11494218-11494423	HepG2	liver:	n/a	n/a
11	FOXA2	chr18:11494165-11494464	HepG2	liver:	n/a	n/a
12	EP300	chr18:11494160-11494442	HepG2	liver:	n/a	n/a
13	SP1	chr18:11494037-11494482	HepG2	liver:	n/a	n/a
14	MXI1	chr18:11494144-11494414	HepG2	liver:	n/a	n/a
15	FOXA1	chr18:11493966-11494554	HepG2	liver:	n/a	n/a
16	FOSL2	chr18:11494166-11494478	HepG2	liver:	n/a	n/a
17	MAFK	chr18:11494186-11494379	HepG2	liver:	n/a	n/a
18	MAFF	chr18:11494196-11494410	HepG2	liver:	n/a	n/a
19	JUND	chr18:11494057-11494470	HepG2	liver:	n/a	n/a
20	ARID3A	chr18:11493958-11494614	HepG2	liver:	n/a	chr18:11494545-11494561
21	EP300	chr18:11494042-11494423	HepG2	liver:	n/a	n/a
22	TEAD4	chr18:11494163-11494365	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:11487890..11489675-chr18:11493773..11495986,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000267564	TF binding region
ENSG00000267252	Chromatin interaction
ENSG00000267564	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12456246	1.00[ASN][1000 genomes]
rs1985861	1.00[ASN][1000 genomes]
rs34248448	1.00[ASN][1000 genomes]
rs4636984	1.00[ASN][1000 genomes]
rs62084066	1.00[ASN][1000 genomes]
rs62084067	1.00[ASN][1000 genomes]
rs62084068	1.00[ASN][1000 genomes]
rs62084072	1.00[ASN][1000 genomes]
rs66871790	1.00[ASN][1000 genomes]
rs71364258	1.00[ASN][1000 genomes]
rs7239176	0.85[MEX][hapmap]
rs73393720	1.00[ASN][1000 genomes]
rs983313	1.00[ASN][1000 genomes]
rs9960005	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458029	chr18:10814334-11662151	Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv576480	chr18:10814334-11662151	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1066659	chr18:11246502-11709409	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
4	nsv1057976	chr18:11251898-11664914	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
5	nsv543650	chr18:11251898-11664914	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
6	nsv1056541	chr18:11336695-11558542	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv543651	chr18:11336695-11558542	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv458031	chr18:11362587-11557161	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv576482	chr18:11362587-11557161	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv909381	chr18:11431945-11609487	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11493400-11494400	Enhancers	HepG2	liver
2	chr18:11493800-11494800	Enhancers	NH-A	brain
3	chr18:11493800-11495000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr18:11493800-11495000	Enhancers	HMEC	breast
5	chr18:11493800-11495000	Enhancers	HUVEC	blood vessel
6	chr18:11493800-11496800	Enhancers	HSMMtube	muscle
7	chr18:11493800-11502400	Enhancers	HSMM	muscle
8	chr18:11493800-11502600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr18:11493800-11502600	Enhancers	NHDF-Ad	bronchial
10	chr18:11494000-11494400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr18:11494000-11494800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr18:11494000-11494800	Enhancers	NHEK	skin
13	chr18:11494000-11495000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr18:11494000-11495000	Enhancers	Osteobl	bone
15	chr18:11494200-11495000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr18:11494200-11497400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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