Variant report

Variant	rs448220
Chromosome Location	chr8:130925492-130925493
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:130924171..130926476-chr8:131049925..131052466,2	K562	blood:
2	chr8:130920727..130922896-chr8:130924444..130927527,3	K562	blood:
3	chr8:130908195..130912113-chr8:130924701..130928264,3	K562	blood:
4	chr8:130899351..130900915-chr8:130924645..130927634,2	K562	blood:
5	chr8:130921182..130922896-chr8:130924381..130926057,2	K562	blood:
6	chr8:130924765..130927470-chr8:131026924..131028748,2	K562	blood:

Variant related genes	Relation type
ENSG00000153310	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs177113	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2449414	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2624809	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2624810	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2624813	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2777699	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs298608	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs372984	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs439184	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56665652	0.84[AFR][1000 genomes]
rs57428409	0.81[AFR][1000 genomes]
rs837083	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[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	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv521998	chr8:130921162-130932427	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130898600-130926200	Weak transcription	Brain Hippocampus Middle	brain
2	chr8:130899400-130925600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:130900000-130926200	Weak transcription	Brain Angular Gyrus	brain
4	chr8:130900600-130935000	Weak transcription	Fetal Intestine Small	intestine
5	chr8:130901000-130929200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr8:130901000-130935200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:130904000-130930200	Weak transcription	Hela-S3	cervix
8	chr8:130904000-130950600	Weak transcription	HSMM	muscle
9	chr8:130904400-130928600	Weak transcription	Brain Anterior Caudate	brain
10	chr8:130905200-130950000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr8:130907000-130928600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr8:130907800-130929000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:130912400-130944600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr8:130912800-130925800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr8:130913400-130946000	Weak transcription	Fetal Thymus	thymus
16	chr8:130913600-130929400	Weak transcription	Primary T cells from cord blood	blood
17	chr8:130914000-130926400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr8:130914400-130925600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr8:130917000-130927400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr8:130917000-130944600	Weak transcription	Primary B cells from peripheral blood	blood
21	chr8:130917400-130928400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr8:130917600-130951200	Weak transcription	Pancreas	Pancrea
23	chr8:130917800-130926400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr8:130918000-130949400	Weak transcription	GM12878-XiMat	blood
25	chr8:130922400-130930200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr8:130922400-130933400	Weak transcription	Primary B cells from cord blood	blood
27	chr8:130922400-130936400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr8:130922400-130950600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr8:130922600-130928600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr8:130922600-130929400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr8:130922800-130927000	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr8:130923000-130925800	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr8:130923000-130925800	Weak transcription	Adipose Nuclei	Adipose
34	chr8:130923000-130926000	Enhancers	A549	lung
35	chr8:130923000-130951000	Weak transcription	Right Atrium	heart
36	chr8:130923200-130925800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr8:130923200-130937000	Weak transcription	Left Ventricle	heart
38	chr8:130923200-130941200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr8:130923400-130926800	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr8:130923600-130927200	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr8:130923600-130927600	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr8:130924000-130927600	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr8:130924000-130933600	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr8:130924200-130928800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr8:130924400-130925600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr8:130924400-130925800	Weak transcription	Brain Substantia Nigra	brain
47	chr8:130924600-130925600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:130924600-130926000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr8:130924600-130928200	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr8:130924800-130926200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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