Variant report

Variant	rs10816155
Chromosome Location	chr9:973158-973159
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	chr9:972618-973288	H1-hESC	embryonic stem cell:	n/a	chr9:973088-973095 chr9:973087-973096
2	SUZ12	chr9:972207-974176	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTBP2	chr9:971617-973784	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr9:971431-973249	H1-hESC	embryonic stem cell:	n/a	chr9:973088-973095 chr9:973087-973096 chr9:972357-972367
5	SIN3A	chr9:971990-973192	H1-hESC	embryonic stem cell:	n/a	chr9:972941-972952
6	E2F6	chr9:970320-973357	H1-hESC	embryonic stem cell:	n/a	chr9:972045-972054 chr9:972887-972895 chr9:972135-972146 chr9:972169-972178 chr9:972887-972895 chr9:971791-971798 chr9:973012-973024
7	SUZ12	chr9:972157-978361	NT2-D1	testis:	n/a	n/a
8	E2F6	chr9:972776-973289	H1-hESC	embryonic stem cell:	n/a	chr9:972887-972895 chr9:972887-972895 chr9:973012-973024

No.	Distal block	Cell Line	Cell type
1	chr9:971648..973169-chr9:976261..977886,2	MCF-7	breast:
2	chr9:970488..973347-chr9:974585..976403,2	K562	blood:
3	chr9:959751..962676-chr9:970259..973174,2	K562	blood:

Variant related genes	Relation type
DMRT3	TF binding region
ENSG00000064218	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10816147	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10816154	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10977870	0.82[ASN][1000 genomes]
rs166789	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs279882	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs279884	0.84[EUR][1000 genomes]
rs279886	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs279890	0.87[EUR][1000 genomes]
rs279891	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs279910	0.92[ASN][1000 genomes]
rs279911	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34893137	0.81[EUR][1000 genomes]
rs417260	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs438293	0.85[EUR][1000 genomes]
rs438294	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs541568	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs604973	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025492	chr9:478813-1157169	Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv539897	chr9:478813-1157169	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv429977	chr9:584087-983301	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv613037	chr9:643453-1138368	Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv817248	chr9:706283-1457665	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv831491	chr9:794113-974142	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv892010	chr9:841152-1069663	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1034070	chr9:911265-1152351	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	esv2755928	chr9:924525-985979	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv892013	chr9:943611-1047343	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv1018926	chr9:965006-1014141	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv892014	chr9:972476-1032153	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:969400-973200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr9:969400-973400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr9:969600-973200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
4	chr9:969600-973400	Bivalent Enhancer	Lung	lung
5	chr9:969800-973200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr9:969800-973200	Bivalent Enhancer	Fetal Lung	lung
7	chr9:971200-973400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
8	chr9:971400-973200	Bivalent Enhancer	Fetal Heart	heart
9	chr9:971400-973600	Bivalent Enhancer	Liver	Liver
10	chr9:971400-973800	Bivalent Enhancer	Stomach Mucosa	stomach
11	chr9:971600-973200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr9:971600-973400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
13	chr9:971600-973800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
14	chr9:971800-973800	Active TSS	Right Atrium	heart
15	chr9:972200-973200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
16	chr9:972200-973200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
17	chr9:972200-973200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr9:972200-973800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr9:972400-973200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr9:972400-973200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr9:972400-973200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr9:972400-973200	Bivalent Enhancer	Fetal Stomach	stomach
23	chr9:972400-973200	Enhancers	Gastric	stomach
24	chr9:972400-973200	Bivalent Enhancer	Left Ventricle	heart
25	chr9:972400-973200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
26	chr9:972400-973400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr9:972400-973400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr9:972400-973600	Bivalent Enhancer	Brain Anterior Caudate	brain
29	chr9:972400-973600	Bivalent Enhancer	Brain Germinal Matrix	brain
30	chr9:972400-973600	Bivalent Enhancer	Colon Smooth Muscle	Colon
31	chr9:972400-973800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr9:972400-973800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
33	chr9:972600-973200	Bivalent Enhancer	Brain Substantia Nigra	brain
34	chr9:972600-973200	Bivalent Enhancer	Fetal Intestine Small	intestine
35	chr9:972600-973200	Bivalent Enhancer	Small Intestine	intestine
36	chr9:972600-973600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
37	chr9:972600-973600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr9:972600-974000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
39	chr9:972800-973200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
40	chr9:972800-973200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
41	chr9:972800-973200	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr9:972800-973200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr9:972800-973200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr9:972800-973200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
45	chr9:972800-973200	Bivalent Enhancer	Brain Hippocampus Middle	brain
46	chr9:972800-973200	Bivalent Enhancer	Fetal Muscle Leg	muscle
47	chr9:972800-973200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
48	chr9:972800-973400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
49	chr9:972800-973400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
50	chr9:972800-973400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum

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