Variant report

Variant	rs12818485
Chromosome Location	chr12:4558850-4558851
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr12:4558670-4559035	HepG2	liver:	n/a	n/a
2	E2F6	chr12:4558736-4559444	H1-hESC	embryonic stem cell:	n/a	n/a
3	ELF1	chr12:4558674-4558944	HepG2	liver:	n/a	n/a
4	NFIC	chr12:4558732-4559451	ECC-1	luminal epithelium:	n/a	n/a
5	ELF1	chr12:4558626-4559032	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
FGF6	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12831479	1.00[ASN][1000 genomes]
rs16931447	1.00[ASN][1000 genomes]
rs2909376	1.00[ASN][1000 genomes]
rs2970831	1.00[ASN][1000 genomes]
rs2970832	1.00[ASN][1000 genomes]
rs2970833	1.00[ASN][1000 genomes]
rs35711623	1.00[ASN][1000 genomes]
rs35924298	1.00[ASN][1000 genomes]
rs71459907	1.00[ASN][1000 genomes]
rs71459908	1.00[ASN][1000 genomes]
rs71459911	1.00[ASN][1000 genomes]
rs7296957	1.00[ASN][1000 genomes]
rs7302664	1.00[ASN][1000 genomes]
rs7955370	1.00[ASN][1000 genomes]
rs7962626	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv898616	chr12:4490059-4564613	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv585	chr12:4514249-4559242	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4551000-4559000	Weak transcription	Right Atrium	heart
2	chr12:4551800-4559000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:4553400-4559000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr12:4553600-4559000	Weak transcription	Fetal Thymus	thymus
5	chr12:4553800-4559000	Weak transcription	Dnd41	blood
6	chr12:4555000-4561200	Enhancers	Fetal Muscle Leg	muscle
7	chr12:4555200-4559000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:4555600-4559000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr12:4555600-4559600	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr12:4555800-4559600	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr12:4556400-4560200	Enhancers	Fetal Brain Male	brain
12	chr12:4558000-4561400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr12:4558200-4559400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr12:4558200-4561200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:4558200-4561400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:4558400-4559200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr12:4558400-4560000	Enhancers	Fetal Intestine Small	intestine
18	chr12:4558600-4559000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:4558600-4559200	Enhancers	Duodenum Mucosa	Duodenum
20	chr12:4558600-4559200	Enhancers	Fetal Intestine Large	intestine
21	chr12:4558600-4559200	Flanking Bivalent TSS/Enh	HepG2	liver
22	chr12:4558600-4559600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr12:4558600-4559600	Enhancers	Psoas Muscle	Psoas
24	chr12:4558600-4560800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr12:4558600-4562000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:4558800-4559200	Enhancers	NHEK	skin
27	chr12:4558800-4559400	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr12:4558800-4559600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr12:4558800-4559800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr12:4558800-4560400	Enhancers	HMEC	breast
31	chr12:4558800-4561600	Enhancers	H1 Cell Line	embryonic stem cell

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