Variant report

Variant	rs4666311
Chromosome Location	chr2:20769615-20769616
allele	A/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20767932..20773273-chr2:20783089..20788305,5	K562	blood:
2	chr2:20768678..20771590-chr2:20774793..20776320,2	K562	blood:
3	chr2:20768883..20770506-chr2:20776488..20778619,2	MCF-7	breast:
4	chr2:20645080..20652615-chr2:20762107..20769809,15	MCF-7	breast:
5	chr2:20761275..20762920-chr2:20768974..20770840,2	K562	blood:
6	chr2:20767266..20769707-chr2:20793726..20796533,3	K562	blood:
7	chr2:20763374..20764943-chr2:20765798..20769722,3	K562	blood:
8	chr2:20769420..20771679-chr2:20786240..20787993,2	K562	blood:
9	chr2:20769124..20771781-chr2:20783924..20785551,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000228950	Chromatin interaction
ENSG00000143878	Chromatin interaction
ENSG00000269976	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10186749	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10200606	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10200781	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13004279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4666312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4666313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4666314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4666425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72782337	0.91[EUR][1000 genomes]
rs72782346	0.93[EUR][1000 genomes]
rs7565075	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7589179	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833537	chr2:20630092-20826816	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv833548	chr2:20682073-20864078	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20751600-20772600	Weak transcription	Brain Angular Gyrus	brain
2	chr2:20764400-20778200	Enhancers	HepG2	liver
3	chr2:20764600-20770200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:20764800-20771600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:20765000-20770400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:20765000-20772000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:20765600-20780800	Enhancers	Adipose Nuclei	Adipose
8	chr2:20765800-20773600	Weak transcription	Fetal Thymus	thymus
9	chr2:20765800-20786200	Enhancers	HUVEC	blood vessel
10	chr2:20766000-20772600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:20766000-20773600	Weak transcription	Fetal Kidney	kidney
12	chr2:20766200-20773400	Weak transcription	Brain Germinal Matrix	brain
13	chr2:20766400-20772800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr2:20766400-20776000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr2:20766800-20780800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr2:20766800-20781000	Enhancers	Left Ventricle	heart
17	chr2:20767000-20769800	Enhancers	Placenta Amnion	Placenta Amnion
18	chr2:20767000-20781000	Enhancers	Right Atrium	heart
19	chr2:20767200-20776600	Enhancers	Right Ventricle	heart
20	chr2:20767400-20769800	Enhancers	NHEK	skin
21	chr2:20767400-20770400	Enhancers	Esophagus	oesophagus
22	chr2:20767400-20772200	Enhancers	Lung	lung
23	chr2:20767400-20774400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:20767400-20774600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr2:20767400-20778200	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr2:20767600-20769800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:20767800-20770800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:20767800-20778600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr2:20767800-20782600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:20768000-20769800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:20768000-20773400	Weak transcription	Fetal Lung	lung
32	chr2:20768200-20772800	Enhancers	Liver	Liver
33	chr2:20768400-20774800	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr2:20768600-20773600	Weak transcription	Fetal Heart	heart
35	chr2:20768600-20777200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:20768800-20771400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:20768800-20773400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:20769000-20770400	Weak transcription	Placenta	Placenta
39	chr2:20769000-20770800	Weak transcription	Spleen	Spleen
40	chr2:20769000-20773200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:20769200-20769800	Enhancers	Fetal Brain Male	brain
42	chr2:20769200-20773400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr2:20769200-20774600	Enhancers	Fetal Intestine Small	intestine
44	chr2:20769200-20777000	Weak transcription	HMEC	breast
45	chr2:20769400-20769800	Enhancers	Brain Anterior Caudate	brain
46	chr2:20769400-20769800	Bivalent Enhancer	Fetal Muscle Leg	muscle
47	chr2:20769400-20770800	Enhancers	Brain Substantia Nigra	brain
48	chr2:20769400-20771200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr2:20769400-20773200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:20769400-20773600	Weak transcription	Fetal Brain Female	brain

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