Variant report

Variant	rs11729789
Chromosome Location	chr4:79338009-79338010
allele	G/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:18)

rs_ID	r²[population]
rs10049667	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11721591	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11727906	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11727944	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11733912	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11939626	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11941464	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11941505	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11944743	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1484332	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1484336	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17460595	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1872268	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34304637	1.00[ASN][1000 genomes]
rs55649620	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73831311	1.00[ASN][1000 genomes]
rs7669730	1.00[ASN][1000 genomes]
rs951900	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79284600-79353600	Weak transcription	Left Ventricle	heart
2	chr4:79295600-79338800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:79302400-79353800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:79318800-79353600	Weak transcription	Pancreas	Pancrea
5	chr4:79320000-79400200	Weak transcription	Psoas Muscle	Psoas
6	chr4:79323200-79340400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:79327000-79342600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr4:79327400-79343600	Weak transcription	Esophagus	oesophagus
9	chr4:79329000-79362000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:79331400-79339000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:79331400-79347600	Weak transcription	Stomach Mucosa	stomach
12	chr4:79332200-79353800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:79332600-79362000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr4:79333200-79338600	Weak transcription	Placenta	Placenta
15	chr4:79333200-79391000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr4:79333400-79346600	Strong transcription	HepG2	liver
17	chr4:79334000-79347200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:79334400-79342800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr4:79335000-79338600	Weak transcription	Fetal Kidney	kidney
20	chr4:79335000-79355600	Weak transcription	Fetal Brain Male	brain
21	chr4:79335600-79338600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr4:79335600-79339000	Weak transcription	Fetal Stomach	stomach
23	chr4:79335600-79339400	Weak transcription	Fetal Lung	lung
24	chr4:79335600-79340400	Weak transcription	Fetal Heart	heart
25	chr4:79335600-79341400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:79336000-79338400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr4:79336200-79343000	Weak transcription	Fetal Intestine Small	intestine
28	chr4:79336400-79338600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr4:79336800-79343000	Weak transcription	Fetal Intestine Large	intestine
30	chr4:79337000-79342800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr4:79337600-79338400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:79337600-79338600	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr4:79337600-79339800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:79337600-79340400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr4:79337800-79338200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:79337800-79338400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr4:79337800-79339000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr4:79337800-79339800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr4:79337800-79340000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:79338000-79338400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr4:79338000-79338600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr4:79338000-79340000	Enhancers	NHEK	skin
43	chr4:79338000-79340200	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr4:79338000-79347200	Weak transcription	Brain Anterior Caudate	brain

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