Variant report

Variant	rs59538303
Chromosome Location	chr11:66661037-66661038
allele	G/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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66660192..66664541-chr11:66668584..66671448,3	K562	blood:
2	chr11:66661036..66663353-chr11:66724438..66726051,2	MCF-7	breast:
3	chr11:66655145..66657137-chr11:66660875..66665067,4	K562	blood:
4	chr11:66659348..66661301-chr11:66688129..66690167,2	K562	blood:
5	chr11:66660543..66663363-chr11:66674635..66676810,3	MCF-7	breast:
6	chr11:66654662..66657137-chr11:66659815..66662375,2	K562	blood:
7	chr11:66610456..66612781-chr11:66659862..66662165,2	K562	blood:
8	chr11:66659283..66661116-chr11:66788722..66791137,2	MCF-7	breast:
9	chr11:66660473..66662701-chr11:66668777..66670882,2	K562	blood:
10	chr11:66657847..66661225-chr11:66662728..66665638,3	K562	blood:
11	chr11:66658390..66661690-chr11:66751725..66755262,3	K562	blood:
12	chr11:66658457..66661060-chr11:66702297..66704086,2	K562	blood:
13	chr11:66647154..66650016-chr11:66659832..66661470,2	MCF-7	breast:
14	chr11:66622700..66625658-chr11:66659292..66661348,2	MCF-7	breast:
15	chr11:66609303..66612781-chr11:66657262..66661414,5	K562	blood:
16	chr11:66622922..66625228-chr11:66660232..66663012,2	MCF-7	breast:
17	chr11:66657413..66662477-chr11:66721279..66726876,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000173653	Chromatin interaction
ENSG00000173621	Chromatin interaction
ENSG00000173227	Chromatin interaction
ENSG00000173599	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11828542	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17147932	1.00[ASN][1000 genomes]
rs2380757	1.00[EUR][1000 genomes]
rs2380758	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3802743	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4397861	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4500496	1.00[ASN][1000 genomes]
rs56803995	1.00[ASN][1000 genomes]
rs57240313	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57410747	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57466874	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58800112	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59550560	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59932755	1.00[ASN][1000 genomes]
rs60651024	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61634527	1.00[ASN][1000 genomes]
rs7952232	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	nsv897794	chr11:66579572-66744119	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv555226	chr11:66579572-66845362	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv428574	chr11:66619002-66804133	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv832194	chr11:66634462-66805980	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
5	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66651000-66664000	Weak transcription	Right Ventricle	heart
2	chr11:66651200-66665600	Weak transcription	Brain Germinal Matrix	brain
3	chr11:66651200-66669800	Weak transcription	Fetal Intestine Small	intestine
4	chr11:66651200-66673200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:66651400-66678400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr11:66654600-66673800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:66655600-66661600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr11:66656200-66668600	Weak transcription	Liver	Liver
9	chr11:66657800-66661400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:66659200-66661200	Enhancers	HMEC	breast
11	chr11:66659200-66662000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr11:66659400-66661800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr11:66659800-66661400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr11:66659800-66661800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr11:66659800-66662000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:66659800-66662200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:66660000-66661400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr11:66660000-66661600	Enhancers	K562	blood
19	chr11:66660000-66663400	Weak transcription	Adipose Nuclei	Adipose
20	chr11:66660000-66672200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:66660200-66665400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:66660200-66673600	Weak transcription	HSMMtube	muscle
23	chr11:66660400-66661600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:66660400-66661800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr11:66660400-66661800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr11:66660400-66662200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:66660600-66665200	Weak transcription	HepG2	liver
28	chr11:66660600-66673600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr11:66660800-66661200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr11:66660800-66661400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:66660800-66661600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr11:66660800-66661600	Enhancers	Hela-S3	cervix
33	chr11:66660800-66662200	Weak transcription	Esophagus	oesophagus
34	chr11:66660800-66665000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:66660800-66668800	Weak transcription	Brain Anterior Caudate	brain
36	chr11:66660800-66671600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:66660800-66671600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:66660800-66672600	Weak transcription	Psoas Muscle	Psoas
39	chr11:66661000-66661400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:66661000-66661600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:66661000-66662400	Enhancers	A549	lung
42	chr11:66661000-66662800	Weak transcription	Brain Hippocampus Middle	brain
43	chr11:66661000-66664000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr11:66661000-66668400	Weak transcription	NHEK	skin
45	chr11:66661000-66669200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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