Variant report

Variant	rs4504700
Chromosome Location	chr9:94788673-94788674
allele	C/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	POLR2A	chr9:94788486-94788828	HepG2	liver:	n/a	n/a
2	POLR2A	chr9:94788510-94788699	HepG2	liver:	n/a	n/a
3	POLR2A	chr9:94788492-94788832	MCF-7	breast:	n/a	n/a
4	POLR2A	chr9:94788536-94788831	MCF-7	breast:	n/a	n/a
5	POLR2A	chr9:94788506-94788828	MCF-7	breast:	n/a	n/a
6	CTCF	chr9:94788661-94788776	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:62588363..62588921-chr9:94788269..94789032,2	NB4	blood:

Variant related genes	Relation type
HSPE1P22	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10820926	0.84[AMR][1000 genomes]
rs10820927	0.84[AMR][1000 genomes]
rs10820929	0.84[AMR][1000 genomes]
rs10992177	0.84[AMR][1000 genomes]
rs10992179	0.84[AMR][1000 genomes]
rs10992180	0.80[AMR][1000 genomes]
rs10992183	0.84[AMR][1000 genomes]
rs12236121	0.84[AMR][1000 genomes]
rs12238682	0.88[AMR][1000 genomes]
rs12554060	0.93[AMR][1000 genomes]
rs7033030	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv831653	chr9:94692454-94867542	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv530947	chr9:94697309-95093377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94779000-94794600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr9:94781200-94794600	Weak transcription	Fetal Stomach	stomach
3	chr9:94782200-94793400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr9:94782200-94794600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr9:94782400-94795600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr9:94785200-94791400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr9:94785200-94795200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr9:94785400-94794200	Weak transcription	NHEK	skin
9	chr9:94785400-94795200	Weak transcription	HMEC	breast
10	chr9:94786200-94794600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr9:94787200-94794600	Weak transcription	Thymus	Thymus
12	chr9:94787200-94794600	Weak transcription	HSMMtube	muscle
13	chr9:94787400-94795000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr9:94788200-94794200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr9:94788400-94789000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr9:94788400-94789000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr9:94788400-94789000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr9:94788400-94794200	Weak transcription	Osteobl	bone
19	chr9:94788400-94794600	Weak transcription	Fetal Intestine Small	intestine
20	chr9:94788400-94795800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr9:94788600-94788800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr9:94788600-94788800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr9:94788600-94789000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr9:94788600-94792200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr9:94788600-94792800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr9:94788600-94794000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links