Variant report

Variant	rs302347
Chromosome Location	chr12:29944246-29944247
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs167318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs186216	0.92[ASN][1000 genomes]
rs302340	0.98[ASN][1000 genomes]
rs302341	0.97[ASN][1000 genomes]
rs302342	0.83[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs302343	0.98[ASN][1000 genomes]
rs302344	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs302349	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs302350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs302352	0.98[ASN][1000 genomes]
rs302353	0.98[ASN][1000 genomes]
rs302355	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7316162	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv898953	chr12:29905322-29989292	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv469191	chr12:29939628-30098770	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv557958	chr12:29939628-30098770	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv3413620	chr12:29942685-29948183	Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
6	esv3447769	chr12:29942785-29948083	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	inside rSNPs	diseases
7	esv3337069	chr12:29942785-29948283	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
8	esv3504807	chr12:29944179-29944911	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29937200-29945400	Weak transcription	Spleen	Spleen
2	chr12:29943800-29946800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr12:29943800-29947200	ZNF genes & repeats	Fetal Kidney	kidney
4	chr12:29944000-29944400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:29944000-29944800	ZNF genes & repeats	Fetal Brain Male	brain
6	chr12:29944000-29945600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:29944000-29946000	ZNF genes & repeats	Gastric	stomach
8	chr12:29944000-29946800	Enhancers	Pancreas	Pancrea
9	chr12:29944000-29947000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
10	chr12:29944000-29947000	ZNF genes & repeats	Dnd41	blood
11	chr12:29944000-29947200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:29944000-29947200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:29944000-29947200	ZNF genes & repeats	Fetal Lung	lung
14	chr12:29944000-29947200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
15	chr12:29944200-29944400	Enhancers	Ovary	ovary
16	chr12:29944200-29947200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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