Variant report

Variant	rs3113282
Chromosome Location	chr7:69955610-69955611
allele	C/G
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:9)

rs_ID	r²[population]
rs10486872	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17568303	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2866436	1.00[ASN][1000 genomes]
rs3094895	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3094904	0.98[ASN][1000 genomes]
rs3113274	1.00[ASN][1000 genomes]
rs62455780	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62455786	0.88[ASN][1000 genomes]
rs73175992	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv869342	chr7:69671501-69958576	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv529669	chr7:69709373-69974708	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1029586	chr7:69817143-69978454	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv538927	chr7:69817143-69978454	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv888340	chr7:69879914-69959059	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	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
9	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
10	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

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69922000-69963800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:69938400-69969000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:69938800-69957000	Weak transcription	Fetal Stomach	stomach
4	chr7:69943000-69984600	Weak transcription	Ovary	ovary
5	chr7:69946400-69960800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:69950600-69962800	Weak transcription	Fetal Muscle Leg	muscle
7	chr7:69952200-69958400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:69952200-69961800	Weak transcription	Fetal Brain Female	brain
9	chr7:69953000-69976000	Weak transcription	Fetal Intestine Small	intestine
10	chr7:69953200-69962600	Weak transcription	Brain Germinal Matrix	brain
11	chr7:69953800-69964400	Weak transcription	Spleen	Spleen
12	chr7:69954400-69956600	Enhancers	Fetal Heart	heart
13	chr7:69955000-69957200	Weak transcription	Fetal Lung	lung
14	chr7:69955400-69963200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr7:69955600-69960800	Weak transcription	Gastric	stomach
16	chr7:69955600-69963000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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

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