Variant report

Variant	rs10846596
Chromosome Location	chr12:124557771-124557772
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10846587	0.96[EUR][1000 genomes]
rs10846588	0.96[EUR][1000 genomes]
rs10846590	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs10846594	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10846595	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs10846598	0.82[EUR][1000 genomes]
rs11057416	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs11057417	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs11057423	0.96[EUR][1000 genomes]
rs11057424	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs11057428	0.98[EUR][1000 genomes]
rs11057431	0.97[EUR][1000 genomes]
rs11057432	0.96[EUR][1000 genomes]
rs11057435	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11057440	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11057444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11057445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11057446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11057447	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11057449	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11611852	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12367007	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1402332	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs55835646	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs825466	0.82[EUR][1000 genomes]
rs825468	0.81[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:31 , 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	chr12:124555200-124558000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr12:124555400-124558200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:124555400-124558800	Enhancers	H1 Cell Line	embryonic stem cell
6	chr12:124555400-124558800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:124555400-124558800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr12:124555600-124558800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr12:124555800-124558600	Enhancers	Fetal Stomach	stomach
10	chr12:124555800-124558800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr12:124555800-124558800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:124556000-124558800	Enhancers	H9 Cell Line	embryonic stem cell
13	chr12:124556000-124558800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:124556400-124558600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:124556800-124559400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:124556800-124559600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:124556800-124560800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:124557000-124558000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:124557000-124558600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:124557200-124558200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:124557200-124558800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:124557400-124557800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:124557400-124557800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr12:124557400-124557800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr12:124557400-124557800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:124557600-124558000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:124557600-124558200	Enhancers	Fetal Thymus	thymus
28	chr12:124557600-124558400	Enhancers	Fetal Lung	lung
29	chr12:124557600-124558600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:124557600-124558800	Enhancers	Placenta	Placenta
31	chr12:124557600-124562200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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