Variant report

Variant	rs28485392
Chromosome Location	chr7:70595906-70595907
allele	A/G
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	REST	chr7:70595904-70597330	H1-neurons	neurons:	n/a	chr7:70596300-70596313 chr7:70596517-70596527 chr7:70596304-70596324

Variant related genes	Relation type
WBSCR17	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10245174	0.92[EUR][1000 genomes]
rs11762382	0.85[ASN][1000 genomes]
rs11973703	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12699002	0.85[ASN][1000 genomes]
rs1525289	0.87[EUR][1000 genomes]
rs1608803	0.87[EUR][1000 genomes]
rs2057943	0.91[EUR][1000 genomes]
rs2079406	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2158735	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34353746	0.90[EUR][1000 genomes]
rs6957446	0.92[EUR][1000 genomes]
rs73186636	0.93[EUR][1000 genomes]
rs7798323	0.87[EUR][1000 genomes]
rs7803653	0.86[ASN][1000 genomes]
rs7804727	0.86[ASN][1000 genomes]
rs880498	0.87[EUR][1000 genomes]
rs9885999	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1034662	chr7:70275712-70722953	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1015261	chr7:70404302-71255933	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	esv3406129	chr7:70595641-70598589	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70594600-70596000	Bivalent Enhancer	Fetal Muscle Leg	muscle
2	chr7:70594800-70596000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:70595000-70596000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:70595000-70596000	Enhancers	Fetal Lung	lung
5	chr7:70595200-70596000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:70595400-70596000	Active TSS	Fetal Brain Male	brain
7	chr7:70595400-70596000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr7:70595600-70596000	Enhancers	Fetal Brain Female	brain
9	chr7:70595600-70596000	Bivalent Enhancer	Fetal Stomach	stomach
10	chr7:70595600-70596000	Enhancers	Placenta Amnion	Placenta Amnion
11	chr7:70595600-70596000	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr7:70595600-70596000	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr7:70595600-70596000	Bivalent Enhancer	NH-A	brain
14	chr7:70595600-70596400	Active TSS	Colonic Mucosa	Colon
15	chr7:70595600-70596400	Enhancers	Fetal Heart	heart
16	chr7:70595800-70596000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:70595800-70596000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr7:70595800-70596000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr7:70595800-70596000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:70595800-70596000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:70595800-70596000	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:70595800-70596200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
23	chr7:70595800-70596200	Enhancers	Stomach Smooth Muscle	stomach
24	chr7:70595800-70596600	Active TSS	H1 Cell Line	embryonic stem cell
25	chr7:70595800-70596800	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr7:70595800-70596800	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr7:70595800-70597400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:70595800-70597400	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr7:70595800-70597800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr7:70595800-70597800	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr7:70595800-70598600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:70595800-70598800	Active TSS	H9 Cell Line	embryonic stem cell
33	chr7:70595800-70598800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:70595800-70599000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:70595800-70599400	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr7:70595800-70599600	Active TSS	Brain Inferior Temporal Lobe	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links