Variant report

Variant	rs1686755
Chromosome Location	chr12:124558471-124558472
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10846592	0.96[ASN][1000 genomes]
rs10846593	0.96[ASN][1000 genomes]
rs10846597	0.95[ASN][1000 genomes]
rs10846599	0.95[ASN][1000 genomes]
rs10846600	0.95[ASN][1000 genomes]
rs11057436	0.93[ASN][1000 genomes]
rs12422529	0.81[EUR][1000 genomes]
rs1387669	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1686726	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1716394	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1716407	0.82[EUR][1000 genomes]
rs1996698	0.89[EUR][1000 genomes]
rs2451321	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2451322	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2460760	0.98[ASN][1000 genomes]
rs2460761	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61953589	0.86[ASN][1000 genomes]
rs7309216	0.95[ASN][1000 genomes]
rs825455	0.86[EUR][1000 genomes]
rs825456	0.90[EUR][1000 genomes]
rs825458	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs825459	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs825461	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs825463	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs825465	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs825467	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs825473	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs825474	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs825475	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs825476	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs825477	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs825481	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs825482	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs825483	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs825484	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs825485	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs825486	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs844085	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs851132	0.89[EUR][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	nsv899580	chr12:124499542-124565258	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv455734	chr12:124511908-124772515	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv560538	chr12:124511908-124772515	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv520633	chr12:124548394-124683205	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr12:124553800-124563200	Weak transcription	Stomach Mucosa	stomach
2	chr12:124554800-124560400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr12:124555400-124558800	Enhancers	H1 Cell Line	embryonic stem cell
4	chr12:124555400-124558800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:124555400-124558800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr12:124555600-124558800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr12:124555800-124558600	Enhancers	Fetal Stomach	stomach
8	chr12:124555800-124558800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr12:124555800-124558800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:124556000-124558800	Enhancers	H9 Cell Line	embryonic stem cell
11	chr12:124556000-124558800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:124556400-124558600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:124556800-124559400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:124556800-124559600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:124556800-124560800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:124557000-124558600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:124557200-124558800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:124557600-124558600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:124557600-124558800	Enhancers	Placenta	Placenta
20	chr12:124557600-124562200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:124557800-124558800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr12:124557800-124558800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr12:124557800-124559400	Enhancers	Placenta Amnion	Placenta Amnion
24	chr12:124558200-124558600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:124558200-124558800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:124558200-124558800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:124558200-124558800	Enhancers	HSMMtube	muscle
28	chr12:124558200-124559600	Enhancers	Fetal Intestine Small	intestine
29	chr12:124558400-124558800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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