Variant report

Variant	rs62469173
Chromosome Location	chr7:107799683-107799684
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:107798540..107800132-chr7:107800268..107801960,2	K562	blood:
2	chr7:107798997..107800868-chr7:107805789..107808643,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10487841	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17134752	1.00[EUR][1000 genomes]
rs17134758	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs367668	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62469167	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62469168	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6973148	0.95[EUR][1000 genomes]
rs7792996	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv949344	chr7:107396502-107987085	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv831089	chr7:107687618-107877240	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	nsv831090	chr7:107786650-108011196	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	nsv888941	chr7:107796150-107863395	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107786800-107805600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:107786800-107811800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr7:107786800-107818400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:107786800-107819000	Weak transcription	Brain Angular Gyrus	brain
5	chr7:107786800-107857800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr7:107787000-107818800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:107787600-107799800	Weak transcription	Fetal Brain Female	brain
8	chr7:107787600-107818800	Weak transcription	Brain Anterior Caudate	brain
9	chr7:107787800-107800400	Weak transcription	Fetal Muscle Leg	muscle
10	chr7:107787800-107807800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:107787800-107844200	Weak transcription	Brain Germinal Matrix	brain
12	chr7:107790400-107816800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:107791000-107824600	Weak transcription	HUVEC	blood vessel
14	chr7:107795200-107800000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:107797600-107799800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:107797800-107800000	Enhancers	Hela-S3	cervix
17	chr7:107797800-107800000	Enhancers	NHEK	skin
18	chr7:107798000-107799800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:107798000-107801000	Enhancers	Duodenum Mucosa	Duodenum
20	chr7:107798200-107800000	Enhancers	HMEC	breast
21	chr7:107798600-107805000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:107799200-107808200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr7:107799400-107799800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:107799400-107799800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:107799400-107800200	Genic enhancers	A549	lung
26	chr7:107799600-107799800	Enhancers	Fetal Intestine Small	intestine
27	chr7:107799600-107800000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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