Variant report

Variant	rs1970621
Chromosome Location	chr9:95929779-95929780
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:12)

rs_ID	r²[population]
rs10821080	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10821084	0.82[ASN][1000 genomes]
rs10821088	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10992662	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1109495	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12336667	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4744186	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4744192	0.83[EUR][1000 genomes]
rs4744195	0.82[EUR][1000 genomes]
rs56039014	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62571716	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7868971	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526296	chr9:95708192-96030392	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1035230	chr9:95770249-95934982	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv893576	chr9:95789960-96158277	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv893580	chr9:95855100-96099377	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv893581	chr9:95872216-95930334	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv824983	chr9:95902154-95978408	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv430082	chr9:95905745-96095045	Genic enhancers Enhancers Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95907200-95944400	Weak transcription	Right Atrium	heart
2	chr9:95922400-95930600	Weak transcription	Right Ventricle	heart
3	chr9:95923000-95930600	Weak transcription	Pancreas	Pancrea
4	chr9:95924600-95930800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr9:95925000-95933800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr9:95925200-95930200	Weak transcription	Left Ventricle	heart
7	chr9:95925400-95930600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr9:95929000-95929800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr9:95929000-95930800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr9:95929000-95931000	Enhancers	Placenta	Placenta
11	chr9:95929200-95930200	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr9:95929200-95930400	Enhancers	Duodenum Mucosa	Duodenum
13	chr9:95929400-95929800	Enhancers	Colonic Mucosa	Colon
14	chr9:95929400-95930600	Weak transcription	Stomach Mucosa	stomach
15	chr9:95929400-95930800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr9:95929400-95931000	Enhancers	Fetal Muscle Trunk	muscle
17	chr9:95929400-95931200	Enhancers	Fetal Muscle Leg	muscle
18	chr9:95929400-95931600	Enhancers	HepG2	liver
19	chr9:95929600-95931000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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