Variant report

Variant	rs612017
Chromosome Location	chr2:97094011-97094012
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10170018	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10209780	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1081711	0.82[AMR][1000 genomes]
rs2083276	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs585781	0.81[AMR][1000 genomes]
rs596069	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs609765	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs618454	0.81[AMR][1000 genomes]
rs631033	0.82[AMR][1000 genomes]
rs6576972	0.82[EUR][1000 genomes]
rs674920	0.88[AMR][1000 genomes]
rs675239	0.81[AMR][1000 genomes]
rs679414	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv874679	chr2:96860971-97184160	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
8	nsv508155	chr2:96934695-97138302	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh 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

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97093000-97094200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:97093000-97094200	Enhancers	Left Ventricle	heart
3	chr2:97093000-97094200	Bivalent Enhancer	HepG2	liver
4	chr2:97093000-97094600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:97093000-97094600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:97093000-97095000	Enhancers	Hela-S3	cervix
7	chr2:97093000-97095000	Enhancers	HMEC	breast
8	chr2:97093200-97094200	Enhancers	HUVEC	blood vessel
9	chr2:97093200-97094200	Enhancers	Osteobl	bone
10	chr2:97093200-97094600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:97093200-97094800	Enhancers	A549	lung
12	chr2:97093200-97095000	Enhancers	NHEK	skin
13	chr2:97093400-97094200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:97093400-97094200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
15	chr2:97093400-97094200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:97093400-97094200	Enhancers	NH-A	brain
17	chr2:97093400-97094200	Enhancers	NHDF-Ad	bronchial
18	chr2:97093600-97094200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:97093600-97094200	Enhancers	HSMM	muscle
20	chr2:97093800-97094200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:97093800-97095800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:97093800-97096200	Weak transcription	Right Ventricle	heart
23	chr2:97094000-97094200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:97094000-97094200	Enhancers	Psoas Muscle	Psoas
25	chr2:97094000-97097000	Weak transcription	Right Atrium	heart

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