Variant report

Variant	rs12649696
Chromosome Location	chr4:79126639-79126640
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10518196	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11098085	0.80[JPT][hapmap]
rs11098093	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12645741	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17003028	0.88[CEU][hapmap];0.80[YRI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17003043	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2866994	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2866995	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4334780	0.81[AMR][1000 genomes]
rs58427733	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs58661619	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58889966	0.86[EUR][1000 genomes]
rs60419354	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62308027	0.81[AMR][1000 genomes]
rs62308039	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62309967	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62309968	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7686101	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534024	chr4:78785189-79437403	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv525530	chr4:79024524-79266563	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv879502	chr4:79052851-79144309	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1010782	chr4:79057839-79387207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv999844	chr4:79092549-79165869	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv879503	chr4:79108589-79163162	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79117000-79129000	Weak transcription	Pancreas	Pancrea
2	chr4:79121600-79139400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr4:79121800-79131800	Weak transcription	Fetal Heart	heart
4	chr4:79122800-79129000	Weak transcription	Fetal Intestine Small	intestine
5	chr4:79122800-79130400	Weak transcription	Fetal Intestine Large	intestine
6	chr4:79124000-79127400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:79124000-79129600	Enhancers	HepG2	liver
8	chr4:79124200-79139400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:79125200-79127200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr4:79125400-79129800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:79125600-79127200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr4:79125600-79127400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr4:79125600-79128200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr4:79125600-79129400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:79125800-79126800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr4:79125800-79126800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:79125800-79127200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr4:79126000-79127200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr4:79126000-79130800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:79126200-79127000	Enhancers	H9 Cell Line	embryonic stem cell
21	chr4:79126200-79127200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr4:79126200-79127400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:79126200-79129800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:79126400-79127000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr4:79126400-79127200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:79126600-79139200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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