Variant report

Variant	rs1917367
Chromosome Location	chr7:124361817-124361818
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1157170	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13239353	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17147392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs996062	0.91[EUR][1000 genomes];0.92[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	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	nsv1027091	chr7:124311742-124388908	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	esv3446198	chr7:124358002-124586856	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124352000-124363800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:124353600-124364200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr7:124355200-124362600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr7:124358200-124362200	Weak transcription	Brain Angular Gyrus	brain
5	chr7:124358400-124362600	Weak transcription	Brain Hippocampus Middle	brain
6	chr7:124358600-124362200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:124358600-124365200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:124359000-124363800	Weak transcription	Liver	Liver
9	chr7:124359200-124362400	Weak transcription	A549	lung
10	chr7:124359600-124362600	Weak transcription	Brain Substantia Nigra	brain
11	chr7:124360400-124362800	Weak transcription	NHEK	skin
12	chr7:124360400-124363800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr7:124360600-124362800	Weak transcription	NH-A	brain
14	chr7:124360600-124363000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:124360600-124364200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:124360600-124365000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr7:124360800-124362200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr7:124360800-124362200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:124360800-124363200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr7:124360800-124364200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr7:124361200-124362200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:124361800-124363400	Enhancers	NHLF	lung
23	chr7:124361800-124363600	Enhancers	HUVEC	blood vessel

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