Variant report

Variant	rs3094904
Chromosome Location	chr7:69990591-69990592
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10486872	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17568303	0.93[ASN][1000 genomes]
rs2866436	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3094895	0.98[ASN][1000 genomes]
rs3094906	0.81[AMR][1000 genomes]
rs3113274	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3113282	0.98[ASN][1000 genomes]
rs62455780	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62455786	0.86[ASN][1000 genomes]
rs73175992	0.98[ASN][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	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1034697	chr7:69913860-70004248	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv538928	chr7:69913860-70004248	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv532783	chr7:69939570-70245396	Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv3341834	chr7:69968031-70288098	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv532784	chr7:69969631-70204548	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1025522	chr7:69971452-70173513	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69983400-70002000	Weak transcription	Primary B cells from cord blood	blood
2	chr7:69983800-70009400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr7:69985400-69991800	Weak transcription	Left Ventricle	heart
4	chr7:69985400-69998600	Weak transcription	Brain Angular Gyrus	brain
5	chr7:69985800-69994400	Weak transcription	Fetal Muscle Leg	muscle
6	chr7:69986000-69995400	Weak transcription	Fetal Kidney	kidney
7	chr7:69986200-69994600	Weak transcription	Psoas Muscle	Psoas
8	chr7:69986200-69998200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:69986400-69991600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:69986400-69991800	Weak transcription	Fetal Lung	lung
11	chr7:69986400-69994600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:69986600-70004200	Weak transcription	Ovary	ovary
13	chr7:69988600-69994400	Weak transcription	Fetal Brain Female	brain
14	chr7:69988800-69990600	Weak transcription	Fetal Stomach	stomach
15	chr7:69988800-69991600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:69988800-70007600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr7:69989400-69991800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:69990000-69992200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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

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