Variant report

Variant	rs1684142
Chromosome Location	chr12:32193468-32193469
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32192092..32194335-chr12:32198674..32200576,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10466761	0.81[EUR][1000 genomes]
rs10771904	0.80[ASN][1000 genomes]
rs10844098	0.81[EUR][1000 genomes]
rs10844103	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10844104	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11051746	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11051748	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11051749	0.94[ASN][1000 genomes]
rs11051750	0.87[ASN][1000 genomes]
rs12309730	0.80[EUR][1000 genomes]
rs12426455	0.80[EUR][1000 genomes]
rs1716940	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1716953	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2594031	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2594034	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2683481	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2683484	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3867161	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56412847	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58435743	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7136780	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73306463	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[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	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv3430326	chr12:32142734-32216569	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	esv3410287	chr12:32142734-32219420	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv976030	chr12:32153446-32307541	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv983498	chr12:32153446-32388092	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS 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	10 gene(s)	inside rSNPs	diseases
8	esv2761731	chr12:32177270-32206870	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32180200-32196200	Weak transcription	Thymus	Thymus
2	chr12:32190200-32195000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:32192000-32193600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr12:32192000-32193600	Enhancers	H9 Cell Line	embryonic stem cell
5	chr12:32192000-32193800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:32192000-32193800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:32192000-32193800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr12:32192000-32193800	Enhancers	Fetal Stomach	stomach
9	chr12:32192000-32194200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:32192200-32193800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr12:32192200-32193800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr12:32192200-32193800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr12:32192200-32193800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:32192600-32193600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr12:32192600-32193600	Enhancers	Fetal Kidney	kidney
16	chr12:32192600-32193800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr12:32192600-32195000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:32192800-32193600	Enhancers	Fetal Heart	heart
19	chr12:32192800-32193800	Enhancers	Fetal Lung	lung
20	chr12:32193000-32193800	Enhancers	Fetal Intestine Large	intestine
21	chr12:32193000-32193800	Flanking Active TSS	K562	blood
22	chr12:32193400-32193600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr12:32193400-32193600	Flanking Active TSS	Ovary	ovary
24	chr12:32193400-32193800	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr12:32193400-32193800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:32193400-32193800	Enhancers	Fetal Intestine Small	intestine
27	chr12:32193400-32196200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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