Variant report

Variant	rs10511796
Chromosome Location	chr9:26954821-26954822
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr9:26953990-26955652	U2OS	brain:	n/a	n/a
2	CUX1	chr9:26954807-26956463	K562	blood:	n/a	n/a
3	POLR2A	chr9:26953691-26954849	GM12892	blood:	n/a	n/a
4	POLR2A	chr9:26953902-26957243	PBDE	blood:	n/a	n/a
5	IRF1	chr9:26954004-26954928	K562	blood:	n/a	n/a
6	TBL1XR1	chr9:26954680-26957417	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:26890425..26894629-chr9:26953159..26958312,6	K562	blood:
2	chr9:26889862..26894629-chr9:26953159..26958871,9	K562	blood:
3	chr9:26943098..26949574-chr9:26949927..26957421,13	K562	blood:
4	chr9:26949977..26952390-chr9:26952885..26955695,2	MCF-7	breast:

No data

Variant related genes	Relation type
IFT74	TF binding region
ENSG00000120159	Chromatin interaction
ENSG00000137055	Chromatin interaction
ENSG00000096872	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10511798	0.94[EUR][1000 genomes]
rs10812480	0.84[CHB][hapmap]
rs10812485	0.90[CHB][hapmap]
rs10812502	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10812505	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10812506	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10812509	1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[EUR][1000 genomes]
rs10812510	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10812513	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs10812514	0.94[EUR][1000 genomes]
rs10812517	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs10812522	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs10812524	0.91[EUR][1000 genomes]
rs10967560	0.95[CHB][hapmap]
rs10967566	0.89[CHB][hapmap]
rs10967581	0.95[CHB][hapmap]
rs10967586	0.90[CHB][hapmap]
rs10967599	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs10967602	1.00[EUR][1000 genomes]
rs10967609	0.94[EUR][1000 genomes]
rs10967611	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs10967612	0.91[EUR][1000 genomes]
rs10967614	0.92[EUR][1000 genomes]
rs10967621	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10967622	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10967623	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10967627	1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10967630	1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10967633	1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10967635	1.00[CEU][hapmap];0.90[CHB][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10967636	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10967646	0.92[EUR][1000 genomes]
rs10967649	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs10967650	1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[EUR][1000 genomes]
rs10967651	0.92[EUR][1000 genomes]
rs10967661	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[EUR][1000 genomes]
rs10967662	0.94[EUR][1000 genomes]
rs10967666	0.94[EUR][1000 genomes]
rs10967668	0.94[EUR][1000 genomes]
rs10967669	0.94[EUR][1000 genomes]
rs10967672	0.94[EUR][1000 genomes]
rs10967673	0.97[EUR][1000 genomes]
rs10967678	1.00[CEU][hapmap];0.80[CHB][hapmap];0.94[EUR][1000 genomes]
rs10967681	1.00[CEU][hapmap];0.80[CHB][hapmap];1.00[YRI][hapmap];0.97[EUR][1000 genomes]
rs10967682	0.86[EUR][1000 genomes]
rs10967688	1.00[CEU][hapmap];0.80[CHB][hapmap];1.00[YRI][hapmap];0.97[EUR][1000 genomes]
rs10967694	0.94[EUR][1000 genomes]
rs10967695	0.94[EUR][1000 genomes]
rs10967699	0.91[EUR][1000 genomes]
rs10967701	0.91[EUR][1000 genomes]
rs10967717	1.00[CEU][hapmap]
rs10967719	1.00[CEU][hapmap]
rs11534184	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11534185	0.88[EUR][1000 genomes]
rs11555693	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11562224	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12235490	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12236404	0.94[EUR][1000 genomes]
rs12236850	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[EUR][1000 genomes]
rs12237867	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12684983	0.91[EUR][1000 genomes]
rs1336337	0.89[CHB][hapmap]
rs17760820	0.89[CHB][hapmap]
rs3737226	0.86[CHB][hapmap];0.91[EUR][1000 genomes]
rs3739544	1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3739547	0.89[CHB][hapmap]
rs3739550	0.90[CHB][hapmap]
rs55827505	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55860736	0.88[EUR][1000 genomes]
rs55870543	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56307252	0.94[EUR][1000 genomes]
rs56903929	0.91[EUR][1000 genomes]
rs57450012	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57692080	0.91[EUR][1000 genomes]
rs60281060	0.94[EUR][1000 genomes]
rs60841248	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7018943	0.95[CHB][hapmap]
rs7019034	0.85[CHB][hapmap]
rs7024327	0.88[EUR][1000 genomes]
rs7031903	0.97[EUR][1000 genomes]
rs7031984	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs7034888	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7034899	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7035447	1.00[CEU][hapmap];0.90[CHB][hapmap];0.80[JPT][hapmap];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7045339	1.00[CEU][hapmap];0.84[CHB][hapmap];0.97[EUR][1000 genomes]
rs72703105	0.97[EUR][1000 genomes]
rs72719536	0.97[EUR][1000 genomes]
rs72719538	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7857447	0.80[CHB][hapmap];0.94[EUR][1000 genomes]
rs7857466	0.86[CHB][hapmap]
rs7865952	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7869798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7873073	0.85[CHB][hapmap]
rs7874940	1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7875171	1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9644870	1.00[CEU][hapmap];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528614	chr9:26893662-27074233	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv517269	chr9:26945976-27137242	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats 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	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:26947600-26955200	Weak transcription	Spleen	Spleen
2	chr9:26948000-26955200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr9:26948200-26955000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr9:26948200-26955000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr9:26948200-26955000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr9:26948200-26955000	Weak transcription	Adipose Nuclei	Adipose
7	chr9:26948200-26955000	Weak transcription	Brain Angular Gyrus	brain
8	chr9:26948200-26955000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr9:26948200-26955000	Weak transcription	Brain Substantia Nigra	brain
10	chr9:26948200-26955000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr9:26948200-26955000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr9:26948200-26955000	Weak transcription	NHDF-Ad	bronchial
13	chr9:26948200-26955000	Weak transcription	NHLF	lung
14	chr9:26948200-26955200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr9:26948200-26955200	Weak transcription	Brain Hippocampus Middle	brain
16	chr9:26948200-26955400	Weak transcription	Psoas Muscle	Psoas
17	chr9:26948200-26955800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:26948400-26955000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr9:26948400-26955200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr9:26948400-26955200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr9:26948400-26955200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr9:26948400-26955200	Weak transcription	Liver	Liver
23	chr9:26949800-26955200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr9:26949800-26955400	Weak transcription	NH-A	brain
25	chr9:26950000-26955200	Weak transcription	HMEC	breast
26	chr9:26950000-26955200	Weak transcription	NHEK	skin
27	chr9:26950600-26955200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr9:26950600-26955400	Weak transcription	Hela-S3	cervix
29	chr9:26953800-26955400	Enhancers	Small Intestine	intestine
30	chr9:26953800-26956000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr9:26954000-26955000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr9:26954000-26955000	Enhancers	HepG2	liver
33	chr9:26954200-26955200	Enhancers	Primary hematopoietic stem cells	blood
34	chr9:26954400-26955200	Enhancers	Osteobl	bone
35	chr9:26954600-26955200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr9:26954600-26955200	Enhancers	GM12878-XiMat	blood
37	chr9:26954600-26955600	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr9:26954800-26955000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr9:26954800-26955000	Weak transcription	Pancreas	Pancrea
40	chr9:26954800-26955200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr9:26954800-26955200	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr9:26954800-26955200	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr9:26954800-26955200	Enhancers	Duodenum Mucosa	Duodenum
44	chr9:26954800-26955200	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr9:26954800-26955200	Enhancers	A549	lung
46	chr9:26954800-26955400	Enhancers	Primary B cells from cord blood	blood
47	chr9:26954800-26955800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr9:26954800-26958200	Active TSS	K562	blood

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