Variant report

Variant	rs72835098
Chromosome Location	chr5:167692214-167692215
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:167691821..167693684-chr5:167841382..167843813,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17551008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60646276	0.88[EUR][1000 genomes]
rs72835088	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72835096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72835099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72836504	1.00[AMR][1000 genomes]
rs72838315	0.93[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	nsv534607	chr5:167661667-168454396	Active TSS Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv5117	chr5:167666701-167711857	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv462512	chr5:167672105-167702041	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv600257	chr5:167672105-167702041	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv949154	chr5:167691208-168323234	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167646800-167695800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr5:167672200-167695800	Weak transcription	Fetal Heart	heart
3	chr5:167673000-167695600	Weak transcription	Brain Anterior Caudate	brain
4	chr5:167674400-167695800	Weak transcription	Fetal Lung	lung
5	chr5:167674600-167694400	Weak transcription	Fetal Brain Male	brain
6	chr5:167674800-167696000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr5:167675000-167695800	Weak transcription	Brain Angular Gyrus	brain
8	chr5:167675400-167696000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr5:167675400-167696000	Weak transcription	Fetal Brain Female	brain
10	chr5:167675800-167696000	Weak transcription	HSMM	muscle
11	chr5:167678800-167696000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:167678800-167696000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:167679000-167696000	Weak transcription	Brain Germinal Matrix	brain
14	chr5:167679200-167695600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr5:167679600-167694800	Weak transcription	HSMMtube	muscle
16	chr5:167687400-167695800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:167688400-167696200	Weak transcription	Right Atrium	heart
18	chr5:167688800-167695800	Weak transcription	Liver	Liver
19	chr5:167688800-167695800	Weak transcription	Colon Smooth Muscle	Colon
20	chr5:167689000-167695800	Weak transcription	Fetal Intestine Large	intestine
21	chr5:167689600-167695600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:167689600-167695800	Weak transcription	HMEC	breast
23	chr5:167689800-167695600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr5:167689800-167696000	Weak transcription	Right Ventricle	heart
25	chr5:167689800-167696200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:167690000-167692800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr5:167690000-167696000	Weak transcription	Left Ventricle	heart
28	chr5:167690400-167695600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:167690800-167695800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:167690800-167695800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr5:167690800-167695800	Weak transcription	NHEK	skin
32	chr5:167692000-167694800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr5:167692000-167696000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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