Variant report

Variant	rs10991905
Chromosome Location	chr9:94124912-94124913
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr9:94122616-94125032	SK-N-SH	brain:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:5296256..5296760-chr9:94124226..94125038,2	Hela-S3	cervix:
2	chr9:94122646..94126004-chr9:94185203..94187645,6	MCF-7	breast:
3	chr9:94124605..94126773-chr9:94127797..94129464,2	K562	blood:
4	chr11:85955573..85956293-chr9:94124313..94125038,2	Hela-S3	cervix:
5	chr9:94120744..94125236-chr9:94184262..94187726,6	K562	blood:
6	chr9:94124603..94127271-chr9:94129657..94131975,2	K562	blood:
7	chr9:94122308..94125236-chr9:94184727..94188096,6	K562	blood:

No data

Variant related genes	Relation type
AUH	TF binding region
ENSG00000165030	Chromatin interaction
ENSG00000074266	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10820842	0.94[AMR][1000 genomes]
rs10991823	0.97[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10991851	0.85[ASN][1000 genomes]
rs10991866	0.87[ASN][1000 genomes]
rs10991873	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10991891	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10991898	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10991899	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6479333	0.95[ASN][1000 genomes]
rs7020676	0.92[ASN][1000 genomes]
rs7021269	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7035286	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893570	chr9:93973938-94148084	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482877	chr9:93979351-94157734	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv893571	chr9:94072113-94202927	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94123000-94125000	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr9:94123400-94125000	Active TSS	Brain Substantia Nigra	brain
3	chr9:94123400-94125000	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr9:94124200-94126400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr9:94124400-94125000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr9:94124400-94125000	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr9:94124600-94125000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr9:94124600-94125000	Enhancers	Primary B cells from peripheral blood	blood
9	chr9:94124600-94125000	Flanking Active TSS	Brain Cingulate Gyrus	brain
10	chr9:94124600-94126000	Weak transcription	Lung	lung
11	chr9:94124800-94125000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr9:94124800-94125000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr9:94124800-94125000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr9:94124800-94125000	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr9:94124800-94125000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr9:94124800-94125000	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr9:94124800-94125000	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr9:94124800-94125000	Enhancers	Adipose Nuclei	Adipose
19	chr9:94124800-94125000	Active TSS	Brain Anterior Caudate	brain
20	chr9:94124800-94125000	Enhancers	Brain Hippocampus Middle	brain
21	chr9:94124800-94125000	Enhancers	Colon Smooth Muscle	Colon
22	chr9:94124800-94125000	Enhancers	Fetal Intestine Small	intestine
23	chr9:94124800-94125000	Enhancers	Psoas Muscle	Psoas
24	chr9:94124800-94125000	Enhancers	Rectal Smooth Muscle	rectum
25	chr9:94124800-94125000	Enhancers	Dnd41	blood
26	chr9:94124800-94125000	Enhancers	Hela-S3	cervix
27	chr9:94124800-94125000	Enhancers	HepG2	liver
28	chr9:94124800-94125800	Weak transcription	Pancreas	Pancrea
29	chr9:94124800-94125800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr9:94124800-94126000	Weak transcription	Stomach Mucosa	stomach
31	chr9:94124800-94126400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr9:94124800-94126400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links