Variant report

Variant	rs2100484
Chromosome Location	chr4:79284276-79284277
allele	C/T
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:16)

rs_ID	r²[population]
rs11936250	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11945678	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13117116	0.91[ASN][1000 genomes]
rs1385130	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17003169	0.81[ASN][1000 genomes]
rs2008485	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2054719	0.81[ASN][1000 genomes]
rs2124142	1.00[ASN][1000 genomes]
rs55763205	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56035063	0.97[ASN][1000 genomes]
rs56242523	0.81[ASN][1000 genomes]
rs56259967	0.97[ASN][1000 genomes]
rs6814410	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6833805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6835769	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72657073	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
4	nsv829978	chr4:79144453-79291868	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv4399	chr4:79251832-79284571	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79258800-79291000	Weak transcription	Fetal Lung	lung
2	chr4:79261400-79287800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:79266400-79284400	Weak transcription	HepG2	liver
4	chr4:79268800-79287400	Weak transcription	Pancreas	Pancrea
5	chr4:79275400-79310600	Weak transcription	Aorta	Aorta
6	chr4:79276000-79289800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:79280600-79284400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr4:79281000-79284400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr4:79281000-79284600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr4:79281600-79285200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:79281800-79284600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr4:79282400-79292800	Weak transcription	Psoas Muscle	Psoas
13	chr4:79282800-79295000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:79283000-79291600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr4:79283200-79284600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:79283200-79290200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr4:79283400-79284400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr4:79283400-79284800	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr4:79283600-79292400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:79283600-79292800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr4:79283800-79284400	Enhancers	Fetal Intestine Small	intestine
22	chr4:79283800-79284400	Weak transcription	Left Ventricle	heart
23	chr4:79283800-79284600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:79283800-79284600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:79283800-79284600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr4:79283800-79284600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr4:79284000-79284600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr4:79284000-79284800	Enhancers	Fetal Intestine Large	intestine
29	chr4:79284000-79287400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr4:79284200-79284600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr4:79284200-79284800	Enhancers	Fetal Heart	heart
32	chr4:79284200-79288800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:79284200-79290000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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