Variant report

Variant	rs421325
Chromosome Location	chr7:136687408-136687409
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1424547	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17168865	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17168866	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17168868	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs324635	0.88[EUR][1000 genomes]
rs324636	0.92[ASN][1000 genomes]
rs324637	0.89[EUR][1000 genomes]
rs324639	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs324640	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324642	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324643	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324644	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324645	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324649	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs324650	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs420817	0.89[EUR][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	nsv1029192	chr7:136433278-137147566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv831147	chr7:136583444-136755741	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2753059	chr7:136633745-136893745	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136674800-136694200	Weak transcription	Left Ventricle	heart
2	chr7:136684800-136689000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:136685400-136688200	Enhancers	Rectal Smooth Muscle	rectum
4	chr7:136685600-136688200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:136686200-136689200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr7:136686200-136690600	Weak transcription	Right Ventricle	heart
7	chr7:136686200-136691000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:136686200-136692200	Weak transcription	Ovary	ovary
9	chr7:136686400-136687600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:136686400-136688000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:136686400-136692000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:136686600-136687600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:136686600-136687600	Weak transcription	Fetal Heart	heart
14	chr7:136686600-136687600	Weak transcription	Fetal Kidney	kidney
15	chr7:136686600-136687800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:136686600-136687800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:136686600-136687800	Weak transcription	Colon Smooth Muscle	Colon
18	chr7:136686600-136690400	Weak transcription	Fetal Stomach	stomach
19	chr7:136686600-136691000	Weak transcription	Osteobl	bone
20	chr7:136686800-136687600	Weak transcription	NHLF	lung
21	chr7:136686800-136687800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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