Variant report

Variant	rs12367189
Chromosome Location	chr12:4829586-4829587
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	FOS	chr12:4829177-4829602	HUVEC	blood vessel:	n/a	chr12:4829402-4829413
2	JUND	chr12:4829382-4829622	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr12:4829583-4830213	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000255474	TF binding region

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

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

rs_ID	r²[population]
rs10492058	0.90[EUR][1000 genomes]
rs10849132	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849135	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063325	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063330	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11831080	1.00[JPT][hapmap]
rs11835306	0.95[EUR][1000 genomes]
rs12371407	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16931634	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1860346	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295581	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7296976	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302268	1.00[CHB][hapmap]
rs7957766	0.95[EUR][1000 genomes]
rs7960375	0.96[EUR][1000 genomes]
rs7970332	0.96[EUR][1000 genomes]
rs7975622	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1054218	chr12:4819576-4882667	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4811200-4833600	Weak transcription	Brain Germinal Matrix	brain
2	chr12:4825800-4838200	Weak transcription	Gastric	stomach
3	chr12:4826800-4830400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr12:4827200-4830400	Enhancers	H9 Cell Line	embryonic stem cell
5	chr12:4827400-4849600	Weak transcription	Fetal Brain Female	brain
6	chr12:4828200-4830600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:4828400-4829600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr12:4828400-4830400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr12:4828600-4830400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:4828600-4830400	Active TSS	Rectal Smooth Muscle	rectum
11	chr12:4828600-4830600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:4828800-4829600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr12:4828800-4830000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr12:4829000-4829600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr12:4829000-4829600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:4829000-4829600	Active TSS	Rectal Mucosa Donor 31	rectum
17	chr12:4829000-4829600	Enhancers	HUVEC	blood vessel
18	chr12:4829000-4829800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr12:4829000-4829800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:4829000-4830000	Active TSS	Colonic Mucosa	Colon
21	chr12:4829000-4830600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:4829000-4830600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr12:4829200-4829600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:4829200-4829600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr12:4829200-4829600	Active TSS	Duodenum Mucosa	Duodenum
26	chr12:4829200-4829600	Enhancers	Fetal Intestine Small	intestine
27	chr12:4829200-4830000	Flanking Active TSS	Fetal Intestine Large	intestine
28	chr12:4829200-4830600	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr12:4829200-4831400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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