Variant report

Variant	rs345512
Chromosome Location	chr4:79240131-79240132
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:79238828..79240839-chr4:79242037..79244552,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1378236	1.00[AMR][1000 genomes]
rs1378240	1.00[AMR][1000 genomes]
rs1580106	1.00[AMR][1000 genomes]
rs1840387	1.00[AMR][1000 genomes]
rs345504	1.00[AMR][1000 genomes]
rs345505	1.00[AMR][1000 genomes]
rs345508	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs345509	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs345510	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs345537	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs369056	1.00[AMR][1000 genomes]
rs391945	1.00[AMR][1000 genomes]
rs395228	1.00[AMR][1000 genomes]
rs405843	1.00[AMR][1000 genomes]
rs448495	1.00[AMR][1000 genomes]
rs649887	1.00[AMR][1000 genomes]
rs6533577	1.00[AMR][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	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	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
5	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

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79198600-79241400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:79215800-79243800	Weak transcription	Right Ventricle	heart
3	chr4:79220400-79246600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:79220400-79246600	Weak transcription	HMEC	breast
5	chr4:79220600-79241400	Weak transcription	Aorta	Aorta
6	chr4:79220800-79243000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:79221200-79263000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr4:79227000-79241400	Weak transcription	Left Ventricle	heart
9	chr4:79229400-79241000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:79229400-79241200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr4:79229800-79257600	Weak transcription	Fetal Stomach	stomach
12	chr4:79230200-79268600	Weak transcription	Pancreas	Pancrea
13	chr4:79230600-79258000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:79231600-79244400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr4:79231600-79260400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:79233000-79241000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr4:79233200-79240800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr4:79234600-79242600	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr4:79235000-79241000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:79235200-79241400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:79235400-79240200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr4:79235800-79240600	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr4:79235800-79246600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:79236000-79249200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:79236400-79241600	Strong transcription	Fetal Intestine Small	intestine
26	chr4:79236600-79240400	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr4:79236800-79241600	Strong transcription	Fetal Intestine Large	intestine
28	chr4:79237800-79240400	Weak transcription	Esophagus	oesophagus
29	chr4:79237800-79246200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:79237800-79252800	Weak transcription	Fetal Kidney	kidney
31	chr4:79238000-79241400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:79238000-79263200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr4:79238400-79244800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr4:79238600-79244000	Weak transcription	Lung	lung
35	chr4:79238600-79246200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr4:79238600-79246600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:79238800-79240200	Weak transcription	Fetal Lung	lung
38	chr4:79238800-79240200	Weak transcription	HepG2	liver
39	chr4:79238800-79241000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr4:79239600-79240400	Enhancers	Fetal Heart	heart
41	chr4:79239600-79241000	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr4:79239600-79241200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr4:79239600-79241200	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr4:79239800-79241200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:79240000-79240200	Genic enhancers	H1 Cell Line	embryonic stem cell
46	chr4:79240000-79240200	Genic enhancers	Psoas Muscle	Psoas

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