Variant report

Variant	rs73074665
Chromosome Location	chr7:20010624-20010625
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr7:20009085-20010701	A549	lung:	n/a	chr7:20010565-20010572
2	GATA3	chr7:20009298-20010916	A549	lung:	n/a	n/a
3	EP300	chr7:20009387-20010666	A549	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000243004	TF binding region

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10229017	0.85[AMR][1000 genomes]
rs56349870	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6947148	0.82[AMR][1000 genomes]
rs6958778	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6962408	0.92[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7804103	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19999600-20023800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:20007800-20024000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:20008000-20017200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr7:20009200-20010800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:20009200-20010800	Enhancers	Fetal Intestine Large	intestine
6	chr7:20009200-20011000	Enhancers	Hela-S3	cervix
7	chr7:20009200-20011800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:20009400-20010800	Enhancers	HUVEC	blood vessel
9	chr7:20009600-20010800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:20009600-20010800	Enhancers	HMEC	breast
11	chr7:20009600-20011000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:20009800-20010800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr7:20009800-20010800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:20009800-20010800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:20009800-20010800	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr7:20010000-20010800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr7:20010000-20010800	Enhancers	Fetal Intestine Small	intestine
18	chr7:20010200-20010800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:20010200-20011000	Flanking Active TSS	A549	lung
20	chr7:20010200-20052000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr7:20010400-20010800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr7:20010600-20011200	Enhancers	NHEK	skin

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