Variant report

Variant	rs4975164
Chromosome Location	chr4:79302557-79302558
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11098160	0.89[ASN][1000 genomes]
rs11098164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11932185	0.89[ASN][1000 genomes]
rs1471750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1872264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1872265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2100483	0.86[ASN][1000 genomes]
rs4975163	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6533620	0.89[ASN][1000 genomes]
rs7670150	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7679527	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs923015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs923016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs923017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs923019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	esv3443485	chr4:79300628-79303526	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79275400-79310600	Weak transcription	Aorta	Aorta
2	chr4:79284600-79353600	Weak transcription	Left Ventricle	heart
3	chr4:79288000-79318400	Weak transcription	Pancreas	Pancrea
4	chr4:79290200-79310800	Weak transcription	Brain Anterior Caudate	brain
5	chr4:79291200-79308400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr4:79291200-79314000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:79291800-79306400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:79291800-79307200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr4:79291800-79318200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:79292000-79312000	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr4:79292200-79306600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr4:79292200-79308400	Weak transcription	Fetal Lung	lung
13	chr4:79292200-79312200	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr4:79292400-79310800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:79292400-79312000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr4:79295600-79338800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:79297600-79310800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr4:79298000-79308000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr4:79299400-79308600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr4:79300400-79303000	Strong transcription	HepG2	liver
21	chr4:79300800-79313200	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr4:79301200-79305800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:79301800-79308000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:79301800-79308400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:79302000-79304400	Weak transcription	Fetal Intestine Small	intestine
26	chr4:79302000-79308200	Weak transcription	A549	lung
27	chr4:79302000-79311000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr4:79302200-79306000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr4:79302200-79308000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr4:79302200-79308200	Weak transcription	Fetal Kidney	kidney
31	chr4:79302200-79308400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr4:79302400-79303800	Weak transcription	Fetal Heart	heart
33	chr4:79302400-79308400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:79302400-79308400	Weak transcription	Fetal Intestine Large	intestine
35	chr4:79302400-79308400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr4:79302400-79308600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr4:79302400-79308600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:79302400-79310800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:79302400-79312200	Weak transcription	HSMMtube	muscle
40	chr4:79302400-79315400	Weak transcription	Psoas Muscle	Psoas
41	chr4:79302400-79315600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:79302400-79353800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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