Variant report

Variant	rs10219689
Chromosome Location	chr12:66933149-66933150
allele	C/T
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	TEAD4	chr12:66932777-66933149	ECC-1	luminal epithelium:	n/a	n/a
2	JUND	chr12:66932768-66933171	H1-hESC	embryonic stem cell:	n/a	n/a
3	SPI1	chr12:66932812-66933182	HL-60	blood:	n/a	n/a
4	TEAD4	chr12:66932767-66933182	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
GRIP1	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10748051	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4523772	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7300413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1040682	chr12:66750103-67328053	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv832447	chr12:66785814-66990029	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv469459	chr12:66854354-66950289	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv559206	chr12:66854354-66950289	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv832449	chr12:66885819-67069953	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv2757508	chr12:66905405-66980180	Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv2759906	chr12:66905405-66980180	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	esv3325978	chr12:66920993-67016708	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv518007	chr12:66922606-66935080	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 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	chr12:66911400-66938200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:66930400-66938000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:66931000-66933600	Enhancers	Fetal Brain Female	brain
4	chr12:66932200-66934200	Enhancers	Fetal Brain Male	brain
5	chr12:66932800-66933200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:66932800-66933200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr12:66932800-66933200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:66932800-66933200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:66932800-66933200	Enhancers	Brain Angular Gyrus	brain
10	chr12:66932800-66933200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:66932800-66933200	Enhancers	Gastric	stomach
12	chr12:66932800-66933200	Enhancers	NH-A	brain
13	chr12:66932800-66933600	Enhancers	Fetal Intestine Large	intestine
14	chr12:66932800-66933600	Enhancers	Fetal Intestine Small	intestine
15	chr12:66932800-66933800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr12:66932800-66933800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:66932800-66934000	Enhancers	Brain Substantia Nigra	brain
18	chr12:66933000-66933200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:66933000-66933200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:66933000-66933200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:66933000-66933200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:66933000-66933200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr12:66933000-66933200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:66933000-66933200	Enhancers	Pancreas	Pancrea
25	chr12:66933000-66933400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:66933000-66933600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr12:66933000-66933800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr12:66933000-66933800	Enhancers	Brain Anterior Caudate	brain
29	chr12:66933000-66934000	Enhancers	Brain Hippocampus Middle	brain

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