Variant report

Variant	rs17142269
Chromosome Location	chr7:20003094-20003095
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17142273	0.82[ASN][1000 genomes]
rs56349870	0.86[AMR][1000 genomes]
rs6962408	0.83[AMR][1000 genomes]
rs7785465	0.82[AMR][1000 genomes]
rs7804103	0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018601	chr7:19272360-20008881	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1033223	chr7:19682192-20461375	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv538795	chr7:19682192-20461375	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv887826	chr7:19816240-20033899	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1027445	chr7:19947297-20211733	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv887830	chr7:19970584-20114589	Enhancers Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1027849	chr7:20003094-20084998	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr7:19991800-20010000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:19998200-20003200	Strong transcription	HUES6 Cell Line	embryonic stem cell
3	chr7:19998400-20009800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:19999400-20009600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:19999600-20005800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:19999600-20023800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:20000200-20004000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:20000200-20006000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr7:20000200-20006800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr7:20000200-20007000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:20001400-20009600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr7:20001400-20009800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:20002400-20003400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:20002600-20003200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:20003000-20004400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:20003000-20004400	Enhancers	A549	lung
17	chr7:20003000-20004400	Enhancers	NHDF-Ad	bronchial
18	chr7:20003000-20004400	Enhancers	Osteobl	bone

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dbSNP/dbVar ID: rs12345 /nsv7879
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