Variant report

Variant	rs10896126
Chromosome Location	chr11:66292908-66292909
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66291040..66297271-chr11:66298915..66306467,9	K562	blood:
2	chr11:66290583..66293283-chr11:66311387..66313963,2	MCF-7	breast:
3	chr11:66292175..66294424-chr11:66311646..66313798,2	K562	blood:
4	chr11:66290822..66293457-chr11:66382909..66385562,2	K562	blood:
5	chr11:66291383..66294424-chr11:66312298..66314719,3	K562	blood:

Variant related genes	Relation type
ENSG00000269990	Chromatin interaction
ENSG00000248746	Chromatin interaction
ENSG00000248643	Chromatin interaction
ENSG00000174165	Chromatin interaction
ENSG00000239306	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1044522	0.82[ASN][1000 genomes]
rs11110	0.82[EUR][1000 genomes]
rs11227485	0.81[EUR][1000 genomes]
rs1201433	0.85[ASN][1000 genomes]
rs1791679	0.88[ASN][1000 genomes]
rs1945302	0.90[ASN][1000 genomes]
rs2242663	0.90[ASN][1000 genomes]
rs2282640	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2511224	0.96[ASN][1000 genomes]
rs2511225	0.87[ASN][1000 genomes]
rs4930381	0.86[ASN][1000 genomes]
rs4930383	0.85[ASN][1000 genomes]
rs4930384	0.89[ASN][1000 genomes]
rs55853079	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs607736	0.90[ASN][1000 genomes]
rs610293	0.94[ASN][1000 genomes]
rs7951189	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
2	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv468601	chr11:66234023-66296114	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv555224	chr11:66234023-66296114	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10896126	CTSF	cis	Esophagus Muscularis	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66278600-66311000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:66278800-66294000	Weak transcription	Aorta	Aorta
3	chr11:66278800-66309800	Weak transcription	HSMMtube	muscle
4	chr11:66278800-66312800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:66279000-66303000	Weak transcription	Primary B cells from cord blood	blood
6	chr11:66279000-66306200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:66279000-66309200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:66279000-66313000	Weak transcription	Small Intestine	intestine
9	chr11:66279200-66295400	Weak transcription	Fetal Kidney	kidney
10	chr11:66279200-66309800	Weak transcription	HUVEC	blood vessel
11	chr11:66279200-66310400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr11:66279200-66310800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr11:66279200-66310800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr11:66279400-66295000	Weak transcription	K562	blood
15	chr11:66279400-66311000	Weak transcription	Fetal Brain Male	brain
16	chr11:66279400-66311200	Weak transcription	Right Atrium	heart
17	chr11:66279800-66305200	Strong transcription	Fetal Muscle Leg	muscle
18	chr11:66281000-66311000	Strong transcription	Fetal Stomach	stomach
19	chr11:66282000-66309600	Weak transcription	NHDF-Ad	bronchial
20	chr11:66283400-66312800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr11:66286200-66301000	Strong transcription	Placenta	Placenta
22	chr11:66286200-66301200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:66287400-66299200	Weak transcription	HepG2	liver
24	chr11:66289000-66293600	Weak transcription	NHLF	lung
25	chr11:66289000-66294200	Weak transcription	Hela-S3	cervix
26	chr11:66289000-66308200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr11:66289000-66309800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr11:66289000-66312800	Weak transcription	Stomach Mucosa	stomach
29	chr11:66290200-66310800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr11:66290800-66293600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr11:66290800-66302800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:66291000-66298600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:66291000-66303000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:66291000-66309800	Weak transcription	HSMM	muscle
35	chr11:66291200-66293800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr11:66291200-66294000	Weak transcription	Fetal Lung	lung
37	chr11:66291200-66302800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:66291200-66303200	Weak transcription	Left Ventricle	heart
39	chr11:66291200-66306200	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr11:66291200-66309800	Weak transcription	NH-A	brain
41	chr11:66291200-66311600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:66291400-66293400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr11:66291400-66293400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr11:66291400-66293600	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr11:66291400-66293600	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr11:66291400-66293800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr11:66291400-66296800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr11:66291400-66296800	Weak transcription	Colonic Mucosa	Colon
49	chr11:66291400-66297000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr11:66291400-66300000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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