Variant report

Variant	rs73400282
Chromosome Location	chr7:97678034-97678035
allele	A/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:11)

rs_ID	r²[population]
rs11975514	0.97[ASN][1000 genomes]
rs11976289	0.97[ASN][1000 genomes]
rs11979008	0.97[ASN][1000 genomes]
rs12704958	0.92[ASN][1000 genomes]
rs13227746	0.97[ASN][1000 genomes]
rs13242849	0.97[ASN][1000 genomes]
rs17169330	1.00[EUR][1000 genomes]
rs2291749	1.00[EUR][1000 genomes]
rs67224414	0.80[ASN][1000 genomes]
rs68095744	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs73400278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3500384	chr7:97527787-98015382	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	esv3500386	chr7:97527787-98015382	Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1017481	chr7:97597641-98041043	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv539031	chr7:97597641-98041043	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer 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	32 gene(s)	inside rSNPs	diseases
6	nsv1019531	chr7:97653880-98034129	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv539032	chr7:97653880-98034129	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	esv1816676	chr7:97676259-97868033	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr7:97664000-97680400	Weak transcription	Spleen	Spleen
2	chr7:97670600-97678200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:97670800-97680400	Weak transcription	Fetal Brain Male	brain
4	chr7:97676200-97680400	Weak transcription	Fetal Brain Female	brain
5	chr7:97677400-97678400	Enhancers	H1 Cell Line	embryonic stem cell
6	chr7:97677400-97678400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:97677400-97679600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:97678000-97678200	Enhancers	Fetal Lung	lung
9	chr7:97678000-97678200	Enhancers	NHEK	skin
10	chr7:97678000-97678400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr7:97678000-97678400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:97678000-97678400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr7:97678000-97678800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr7:97678000-97679200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr7:97678000-97679200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:97678000-97679200	Enhancers	HMEC	breast

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dbSNP/dbVar ID: rs12345 /nsv7879
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