Variant report

Variant	rs7873125
Chromosome Location	chr9:95709659-95709660
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	MAX	chr9:95709531-95709803	NB4	blood:	n/a	chr9:95709608-95709617
2	ZBTB7A	chr9:95709327-95710495	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr9:95709565-95710028	ECC-1	luminal epithelium:	n/a	n/a
4	KAP1	chr9:95708756-95709867	HEK293	kidney:	n/a	n/a
5	POLR2A	chr9:95709462-95710039	SK-N-MC	brain:	n/a	n/a
6	ZBTB7A	chr9:95709203-95710581	ECC-1	luminal epithelium:	n/a	n/a
7	MYC	chr9:95709550-95709750	NB4	blood:	n/a	chr9:95709608-95709617
8	UBTF	chr9:95709622-95709811	K562	blood:	n/a	n/a
9	UBTF	chr9:95709649-95709842	K562	blood:	n/a	n/a
10	REST	chr9:95709052-95711028	H1-neurons	neurons:	n/a	chr9:95709946-95709959 chr9:95709583-95709596 chr9:95709704-95709717

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:95708784..95711358-chr9:96213029..96214881,2	K562	blood:

Variant related genes	Relation type
FGD3	TF binding region
ENSG00000048828	Chromatin interaction
ENSG00000188938	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12003440	0.87[ASN][1000 genomes]
rs12003885	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13284600	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13293147	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13294147	0.90[ASN][1000 genomes]
rs16908645	0.81[EUR][1000 genomes]
rs17886128	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34405247	0.87[ASN][1000 genomes]
rs34739544	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34953814	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35449185	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35721889	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35861549	0.81[EUR][1000 genomes]
rs4074836	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4078292	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4260949	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4744160	0.87[ASN][1000 genomes]
rs58264693	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7024752	0.90[ASN][1000 genomes]
rs7035881	0.90[ASN][1000 genomes]
rs7043469	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7856228	0.81[EUR][1000 genomes]
rs7856678	0.81[EUR][1000 genomes]
rs7856681	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7858810	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7859461	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9942865	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[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	nsv831654	chr9:95542920-95720961	ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv3373273	chr9:95707031-95711229	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
3	nsv526296	chr9:95708192-96030392	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95709000-95709800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr9:95709000-95712000	Flanking Active TSS	Primary T cells from cord blood	blood
3	chr9:95709000-95712200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr9:95709200-95709800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr9:95709200-95709800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
6	chr9:95709200-95709800	Bivalent Enhancer	Stomach Mucosa	stomach
7	chr9:95709200-95710000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr9:95709200-95710200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr9:95709200-95710200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr9:95709200-95710200	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
11	chr9:95709200-95710200	Bivalent Enhancer	Fetal Heart	heart
12	chr9:95709200-95710200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
13	chr9:95709200-95710200	Enhancers	Spleen	Spleen
14	chr9:95709200-95710200	Bivalent/Poised TSS	A549	lung
15	chr9:95709200-95710200	Active TSS	HSMMtube	muscle
16	chr9:95709200-95710400	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
17	chr9:95709200-95710400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr9:95709200-95710400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
19	chr9:95709200-95711000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr9:95709400-95709800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr9:95709400-95709800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr9:95709400-95709800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr9:95709400-95709800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
24	chr9:95709400-95709800	Active TSS	Primary hematopoietic stem cells	blood
25	chr9:95709400-95709800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr9:95709400-95709800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
27	chr9:95709400-95709800	Bivalent Enhancer	Colon Smooth Muscle	Colon
28	chr9:95709400-95709800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
29	chr9:95709400-95709800	Active TSS	Gastric	stomach
30	chr9:95709400-95709800	Flanking Active TSS	Right Ventricle	heart
31	chr9:95709400-95709800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
32	chr9:95709400-95709800	Flanking Bivalent TSS/Enh	Thymus	Thymus
33	chr9:95709400-95710000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
34	chr9:95709400-95710000	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr9:95709400-95710000	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
36	chr9:95709400-95710000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr9:95709400-95710000	Active TSS	Brain Cingulate Gyrus	brain
38	chr9:95709400-95710000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
39	chr9:95709400-95710000	Flanking Active TSS	HMEC	breast
40	chr9:95709400-95710000	Bivalent/Poised TSS	NH-A	brain
41	chr9:95709400-95710200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
42	chr9:95709400-95710200	Active TSS	H1 Cell Line	embryonic stem cell
43	chr9:95709400-95710200	Active TSS	H9 Cell Line	embryonic stem cell
44	chr9:95709400-95710200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
45	chr9:95709400-95710200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr9:95709400-95710200	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr9:95709400-95710200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr9:95709400-95710200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr9:95709400-95710200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
50	chr9:95709400-95710200	Bivalent Enhancer	Liver	Liver

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