Variant report

Variant	rs10110655
Chromosome Location	chr8:125575619-125575620
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125560928..125566588-chr8:125566852..125577107,17	MCF-7	breast:
2	chr8:125572673..125575871-chr8:125577015..125582400,6	K562	blood:
3	chr8:125549460..125555106-chr8:125573452..125578755,9	MCF-7	breast:
4	chr8:125573757..125577202-chr8:125578987..125583404,3	MCF-7	breast:
5	chr8:125575430..125576994-chr8:125827635..125829466,2	K562	blood:
6	chr8:125569223..125571926-chr8:125574045..125576529,2	K562	blood:
7	chr8:125486165..125488789-chr8:125574025..125577553,3	MCF-7	breast:
8	chr8:125572972..125577628-chr8:125578200..125582090,6	MCF-7	breast:
9	chr8:125574370..125578079-chr8:125630160..125632086,3	MCF-7	breast:
10	chr8:125567601..125570100-chr8:125573465..125576752,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000245149	Chromatin interaction
ENSG00000170881	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000147684	Chromatin interaction
ENSG00000255491	Chromatin interaction
ENSG00000170873	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10094916	1.00[CEU][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10099056	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10103773	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.91[YRI][hapmap];0.88[EUR][1000 genomes]
rs11778396	0.86[YRI][hapmap]
rs11783209	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12546733	0.92[EUR][1000 genomes]
rs13255599	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13256399	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16899688	0.85[CEU][hapmap];0.83[YRI][hapmap]
rs17371123	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2303955	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3750232	0.88[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs3763540	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3763541	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3763542	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3763543	0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3763544	0.94[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs3829035	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4489311	1.00[CEU][hapmap];0.89[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6415485	0.88[EUR][1000 genomes]
rs6470253	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.91[YRI][hapmap];0.89[EUR][1000 genomes]
rs6470254	1.00[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap];0.88[EUR][1000 genomes]
rs6997175	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs6997184	0.89[CHB][hapmap];0.95[JPT][hapmap]
rs6998600	0.92[EUR][1000 genomes]
rs7010757	0.91[YRI][hapmap]
rs7015228	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7015374	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7821954	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7835397	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7841224	0.85[CEU][hapmap];0.89[JPT][hapmap]
rs7846270	0.94[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531508	chr8:125390194-125587953	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv465801	chr8:125565328-125576681	Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
3	nsv612145	chr8:125565328-125576681	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv525649	chr8:125565328-125600818	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv465802	chr8:125570144-125576681	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	nsv612146	chr8:125570144-125576681	Genic enhancers Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	nsv971700	chr8:125575569-125576444	Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125553800-125581200	Strong transcription	Fetal Brain Female	brain
2	chr8:125554200-125576200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:125554400-125576200	Strong transcription	Fetal Intestine Large	intestine
4	chr8:125554600-125575800	Strong transcription	Stomach Smooth Muscle	stomach
5	chr8:125556800-125576800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:125564400-125576800	Strong transcription	Fetal Intestine Small	intestine
7	chr8:125566000-125576400	Weak transcription	GM12878-XiMat	blood
8	chr8:125566000-125602400	Weak transcription	Aorta	Aorta
9	chr8:125566200-125575800	Weak transcription	NHDF-Ad	bronchial
10	chr8:125566200-125590400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:125566400-125575800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:125566400-125575800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr8:125566400-125577600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:125566400-125577800	Weak transcription	Small Intestine	intestine
15	chr8:125566400-125600600	Weak transcription	NHEK	skin
16	chr8:125566600-125576400	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr8:125566600-125577200	Weak transcription	Osteobl	bone
18	chr8:125566800-125581400	Weak transcription	HSMM	muscle
19	chr8:125567000-125590200	Weak transcription	Fetal Brain Male	brain
20	chr8:125567200-125576200	Weak transcription	Fetal Heart	heart
21	chr8:125568200-125577000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:125568400-125575800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:125568600-125576400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:125568800-125576400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:125570000-125584800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr8:125570800-125605000	Weak transcription	Colon Smooth Muscle	Colon
27	chr8:125571800-125581200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr8:125572000-125577000	Weak transcription	NHLF	lung
29	chr8:125572400-125575800	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr8:125572400-125575800	Weak transcription	Brain Substantia Nigra	brain
31	chr8:125572400-125576400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr8:125573400-125575800	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr8:125573800-125575800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:125574200-125576000	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr8:125574200-125576000	Weak transcription	Colonic Mucosa	Colon
36	chr8:125574200-125576000	Genic enhancers	Fetal Muscle Trunk	muscle
37	chr8:125574200-125576200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr8:125574200-125577200	Enhancers	Psoas Muscle	Psoas
39	chr8:125574400-125575800	Genic enhancers	Spleen	Spleen
40	chr8:125574400-125609400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr8:125574600-125575800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr8:125574800-125575800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr8:125574800-125576000	Enhancers	Primary T cells fromperipheralblood	blood
44	chr8:125574800-125580600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:125574800-125581000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr8:125574800-125590200	Weak transcription	HMEC	breast
47	chr8:125575000-125575800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr8:125575000-125575800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr8:125575000-125575800	Genic enhancers	Liver	Liver
50	chr8:125575000-125575800	Genic enhancers	Rectal Mucosa Donor 29	rectum

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