Variant report

Variant	rs1985592
Chromosome Location	chr7:97678567-97678568
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:97677238..97679443-chr7:97716056..97717663,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12532673	0.98[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12536913	0.96[ASN][1000 genomes]
rs12671439	0.83[ASN][1000 genomes]
rs1636522	0.95[EUR][1000 genomes]
rs17169251	1.00[ASN][1000 genomes]
rs1799052	0.82[EUR][1000 genomes]
rs1799053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35841683	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36051940	0.85[EUR][1000 genomes]
rs3857802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705307	0.95[EUR][1000 genomes]
rs7779795	0.85[EUR][1000 genomes]
rs7783842	0.95[ASN][1000 genomes]
rs847562	0.95[EUR][1000 genomes]
rs847563	0.85[EUR][1000 genomes]
rs847565	0.92[ASN][1000 genomes]
rs847568	0.94[EUR][1000 genomes]
rs847569	0.99[ASN][1000 genomes]
rs847570	0.95[EUR][1000 genomes]
rs847571	0.95[EUR][1000 genomes]
rs865338	0.99[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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97664000-97680400	Weak transcription	Spleen	Spleen
2	chr7:97670800-97680400	Weak transcription	Fetal Brain Male	brain
3	chr7:97676200-97680400	Weak transcription	Fetal Brain Female	brain
4	chr7:97677400-97679600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:97678000-97678800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr7:97678000-97679200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr7:97678000-97679200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:97678000-97679200	Enhancers	HMEC	breast
9	chr7:97678200-97678800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:97678200-97678800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:97678200-97679000	Enhancers	Placenta	Placenta
12	chr7:97678400-97678600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:97678400-97678600	Enhancers	NHEK	skin
14	chr7:97678400-97678800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:97678400-97678800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:97678400-97680600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr7:97678400-97680600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr7:97678400-97680600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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