Variant report

Variant	rs1420732
Chromosome Location	chr12:12447249-12447250
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10845509	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1420733	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4763797	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4763798	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7970052	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7976685	0.82[ASN][1000 genomes]
rs7980467	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7980573	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898806	chr12:12264471-12453808	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
3	nsv832332	chr12:12344027-12484966	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr12:12437000-12447600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:12443400-12447400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr12:12446000-12448200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr12:12446200-12448200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr12:12446600-12448200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr12:12446600-12449000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:12446800-12448200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:12446800-12449000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:12447000-12447800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:12447000-12447800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr12:12447000-12447800	Enhancers	Fetal Lung	lung
12	chr12:12447000-12447800	Enhancers	Ovary	ovary
13	chr12:12447000-12447800	Enhancers	Spleen	Spleen
14	chr12:12447000-12448000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr12:12447000-12448000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:12447000-12448000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr12:12447000-12448000	Enhancers	Colon Smooth Muscle	Colon
18	chr12:12447000-12448200	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr12:12447000-12448200	Enhancers	HUVEC	blood vessel
20	chr12:12447200-12447400	Enhancers	Liver	Liver
21	chr12:12447200-12447600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:12447200-12447800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr12:12447200-12447800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:12447200-12447800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:12447200-12447800	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr12:12447200-12447800	Enhancers	Fetal Stomach	stomach
27	chr12:12447200-12447800	Enhancers	Stomach Mucosa	stomach
28	chr12:12447200-12448000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr12:12447200-12448000	Enhancers	Rectal Smooth Muscle	rectum
30	chr12:12447200-12448200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:12447200-12448200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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