Variant report

Variant	rs2512364
Chromosome Location	chr11:86746706-86746707
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	CUX1	chr11:86746705-86747270	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:86745920..86747956-chr11:88147015..88149207,2	K562	blood:
2	chr11:86743752..86746818-chr11:86747037..86750617,4	K562	blood:
3	chr11:86711685..86713729-chr11:86746154..86748581,2	K562	blood:

Variant related genes	Relation type
TMEM135	TF binding region
ENSG00000166575	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12270673	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12790473	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2124577	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2445537	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2445538	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2445564	0.81[ASN][1000 genomes]
rs2445570	0.81[ASN][1000 genomes]
rs2445581	0.81[ASN][1000 genomes]
rs2512370	0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2512371	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2512373	0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2512379	0.81[ASN][1000 genomes]
rs2512478	0.90[ASN][1000 genomes]
rs2512486	0.86[ASN][1000 genomes]
rs2512498	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2512502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2513206	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2513219	0.81[ASN][1000 genomes]
rs2513220	0.81[ASN][1000 genomes]
rs2513234	0.83[ASN][1000 genomes]
rs3740659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4944657	0.80[AMR][1000 genomes]
rs7934461	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs921875	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs965467	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1037042	chr11:86586876-86978492	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv541119	chr11:86586876-86978492	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86731800-86748200	Weak transcription	Fetal Muscle Leg	muscle
2	chr11:86735800-86748200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:86740600-86747600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr11:86740800-86747600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:86741000-86748000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr11:86742000-86746800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:86742000-86747000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr11:86742000-86747200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:86742000-86748000	Weak transcription	HMEC	breast
10	chr11:86742000-86748200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:86742000-86748200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr11:86742000-86748200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:86742200-86747000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:86742200-86747600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr11:86742200-86748000	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr11:86742200-86748000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr11:86742400-86747600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr11:86742400-86747600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr11:86742400-86747800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr11:86743000-86746800	Weak transcription	Hela-S3	cervix
21	chr11:86743000-86748200	Weak transcription	Colon Smooth Muscle	Colon
22	chr11:86743200-86748200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr11:86744200-86747400	Weak transcription	Fetal Brain Male	brain
24	chr11:86745000-86747000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr11:86745000-86747400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:86745000-86747800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr11:86745200-86746800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr11:86745400-86746800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr11:86745400-86747000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr11:86745400-86747000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:86745600-86747600	Enhancers	HepG2	liver
32	chr11:86745800-86746800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr11:86745800-86746800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr11:86745800-86746800	Weak transcription	K562	blood
35	chr11:86745800-86747000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:86745800-86748000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:86746000-86748000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:86746400-86748200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:86746600-86748000	Enhancers	Adipose Nuclei	Adipose
40	chr11:86746600-86748200	Enhancers	NHDF-Ad	bronchial

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