Variant report

Variant	rs73424436
Chromosome Location	chr11:18631551-18631552
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:18612916..18614635-chr11:18629860..18632297,2	K562	blood:
2	chr11:18625144..18627417-chr11:18628877..18631638,2	K562	blood:
3	chr11:18629851..18633818-chr11:18636242..18638829,5	K562	blood:
4	chr11:18629872..18633193-chr11:18634242..18638507,6	K562	blood:
5	chr11:18629347..18632000-chr11:18632583..18634106,2	K562	blood:
6	chr11:18609003..18612454-chr11:18630234..18632973,3	MCF-7	breast:
7	chr11:18530150..18532060-chr11:18629493..18631954,2	K562	blood:
8	chr11:18616067..18617811-chr11:18630289..18631863,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000151116	Chromatin interaction
ENSG00000256588	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12790143	0.83[ASN][1000 genomes]
rs16935609	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2121385	0.83[ASN][1000 genomes]
rs2658558	0.83[ASN][1000 genomes]
rs34242612	0.83[ASN][1000 genomes]
rs56811637	0.83[ASN][1000 genomes]
rs58804032	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58988307	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60928664	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61208217	0.83[ASN][1000 genomes]
rs61424905	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61752314	0.83[ASN][1000 genomes]
rs7106180	0.83[ASN][1000 genomes]
rs7110470	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71486878	1.00[AMR][1000 genomes]
rs73422545	0.83[ASN][1000 genomes]
rs73422599	0.83[ASN][1000 genomes]
rs73422601	0.83[ASN][1000 genomes]
rs73424410	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73424413	0.83[ASN][1000 genomes]
rs73424437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73424439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73424445	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73424447	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73424452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73424463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73424468	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73424475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73424485	1.00[AFR][1000 genomes]
rs73424497	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7926511	0.83[ASN][1000 genomes]
rs7936497	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7936520	1.00[EUR][1000 genomes]
rs7938645	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7942526	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7951729	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs872872	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs872873	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv1042155	chr11:18435855-18697576	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	nsv1046886	chr11:18547568-18781448	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv540956	chr11:18547568-18781448	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
6	nsv516413	chr11:18628418-18643758	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18611200-18636400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:18611400-18635800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:18611800-18636200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr11:18612000-18636200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:18612400-18638400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:18617800-18632200	Weak transcription	Brain Substantia Nigra	brain
7	chr11:18618000-18636400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:18618400-18635000	Weak transcription	NHEK	skin
9	chr11:18618600-18632000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:18618600-18632400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:18618600-18632600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:18618600-18635000	Weak transcription	Esophagus	oesophagus
13	chr11:18618600-18636200	Weak transcription	Pancreas	Pancrea
14	chr11:18618600-18636200	Weak transcription	Right Ventricle	heart
15	chr11:18623400-18632400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr11:18624000-18637800	Strong transcription	Fetal Muscle Leg	muscle
17	chr11:18624800-18640800	Weak transcription	Right Atrium	heart
18	chr11:18625000-18635200	Weak transcription	Small Intestine	intestine
19	chr11:18625200-18637200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:18625200-18637800	Strong transcription	A549	lung
21	chr11:18625800-18633200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:18625800-18638400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr11:18626200-18632600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:18626200-18633000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:18626200-18635600	Weak transcription	Gastric	stomach
26	chr11:18626200-18638000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:18626200-18638800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:18626800-18634200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:18627000-18631600	Strong transcription	HMEC	breast
30	chr11:18627000-18632600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:18627200-18633200	Strong transcription	Brain Germinal Matrix	brain
32	chr11:18627200-18634000	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr11:18627200-18637200	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr11:18627400-18632000	Strong transcription	Adipose Nuclei	Adipose
35	chr11:18627400-18634200	Strong transcription	Primary T cells from cord blood	blood
36	chr11:18627400-18636600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr11:18627400-18638000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr11:18627600-18631600	Strong transcription	Primary hematopoietic stem cells	blood
39	chr11:18627600-18634000	Strong transcription	Fetal Brain Female	brain
40	chr11:18627600-18637200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr11:18627600-18637200	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr11:18627600-18637400	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr11:18627600-18637600	Strong transcription	Primary B cells from peripheral blood	blood
44	chr11:18627600-18638200	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr11:18627600-18638400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:18628000-18633000	Weak transcription	Fetal Brain Male	brain
47	chr11:18628400-18637600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:18628600-18633000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:18628600-18633000	Strong transcription	Fetal Lung	lung
50	chr11:18628600-18633200	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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