Variant report

Variant	rs4008953
Chromosome Location	chr11:66660949-66660950
allele	A/G
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	chr11:66659430..66661000-chr11:66669992..66672948,2	MCF-7	breast:
2	chr11:66660192..66664541-chr11:66668584..66671448,3	K562	blood:
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
ENSG00000173227	Chromatin interaction
ENSG00000173599	Chromatin interaction
ENSG00000173621	Chromatin interaction
ENSG00000173653	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10160758	0.88[EUR][1000 genomes]
rs10896139	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11227610	0.90[EUR][1000 genomes]
rs11600959	0.90[EUR][1000 genomes]
rs2077432	0.89[EUR][1000 genomes]
rs2167457	0.91[EUR][1000 genomes]
rs2380760	0.94[EUR][1000 genomes]
rs3741194	0.86[EUR][1000 genomes]
rs7103627	0.87[EUR][1000 genomes]
rs7119426	0.92[EUR][1000 genomes]
rs7120256	0.91[EUR][1000 genomes]
rs7122539	0.89[AFR][1000 genomes]
rs7930203	0.80[EUR][1000 genomes]
rs7948839	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9971487	0.92[EUR][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:54 , 50 per page) page: 1 2

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	chr11:66659000-66661000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:66659200-66661000	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr11:66659200-66661000	Flanking Active TSS	A549	lung
13	chr11:66659200-66661000	Enhancers	Osteobl	bone
14	chr11:66659200-66661200	Enhancers	HMEC	breast
15	chr11:66659200-66662000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr11:66659400-66661000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:66659400-66661000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:66659400-66661000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:66659400-66661000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:66659400-66661000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr11:66659400-66661800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr11:66659600-66661000	Enhancers	H1 Cell Line	embryonic stem cell
23	chr11:66659800-66661000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr11:66659800-66661400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr11:66659800-66661800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr11:66659800-66662000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:66659800-66662200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:66660000-66661400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr11:66660000-66661600	Enhancers	K562	blood
30	chr11:66660000-66663400	Weak transcription	Adipose Nuclei	Adipose
31	chr11:66660000-66672200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:66660200-66665400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:66660200-66673600	Weak transcription	HSMMtube	muscle
34	chr11:66660400-66661000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr11:66660400-66661000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:66660400-66661000	Enhancers	Brain Hippocampus Middle	brain
37	chr11:66660400-66661600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:66660400-66661800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr11:66660400-66661800	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr11:66660400-66662200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:66660600-66661000	Enhancers	NHEK	skin
42	chr11:66660600-66665200	Weak transcription	HepG2	liver
43	chr11:66660600-66673600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr11:66660800-66661000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr11:66660800-66661200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr11:66660800-66661400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:66660800-66661600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr11:66660800-66661600	Enhancers	Hela-S3	cervix
49	chr11:66660800-66662200	Weak transcription	Esophagus	oesophagus
50	chr11:66660800-66665000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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