Variant report

Variant	rs62522648
Chromosome Location	chr8:96227335-96227336
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:96144879..96147244-chr8:96226350..96228191,2	MCF-7	breast:
2	chr8:96215901..96218694-chr8:96226457..96227957,2	MCF-7	breast:
3	chr8:96148386..96151549-chr8:96224432..96227854,3	MCF-7	breast:
4	chr8:96214009..96217041-chr8:96227079..96229399,3	K562	blood:

Variant related genes	Relation type
ENSG00000253773	Chromatin interaction
ENSG00000175895	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs56001003	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62522644	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62522646	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7824368	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7824517	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv523655	chr8:96205920-96239113	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv16466	chr8:96206151-96243934	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv516035	chr8:96208726-96235451	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv465740	chr8:96211820-96235451	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv611758	chr8:96211820-96235451	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv6315	chr8:96216465-96261671	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv465741	chr8:96221122-96247835	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv611759	chr8:96221122-96247835	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96214400-96233400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr8:96219400-96229600	Enhancers	Fetal Thymus	thymus
3	chr8:96219800-96251800	Enhancers	Primary B cells from peripheral blood	blood
4	chr8:96220600-96229400	Enhancers	Primary hematopoietic stem cells	blood
5	chr8:96220800-96228000	Enhancers	Thymus	Thymus
6	chr8:96220800-96229600	Enhancers	Primary B cells from cord blood	blood
7	chr8:96221000-96228400	Enhancers	Primary T cells fromperipheralblood	blood
8	chr8:96221200-96228800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr8:96222000-96228400	Enhancers	Primary T cells from cord blood	blood
10	chr8:96222400-96227800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr8:96222600-96227600	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr8:96222800-96227400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr8:96222800-96227400	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr8:96223000-96227600	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr8:96223200-96228600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:96223600-96228000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr8:96223600-96237200	Weak transcription	Fetal Intestine Small	intestine
18	chr8:96223800-96228800	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr8:96223800-96229200	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr8:96224000-96228800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr8:96224200-96230000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr8:96224600-96228400	Enhancers	Spleen	Spleen
23	chr8:96225200-96227600	Enhancers	Lung	lung
24	chr8:96225200-96227600	Enhancers	GM12878-XiMat	blood
25	chr8:96225200-96227800	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr8:96225200-96229800	Weak transcription	Stomach Mucosa	stomach
27	chr8:96225400-96228800	Weak transcription	HepG2	liver
28	chr8:96225400-96232800	Weak transcription	Esophagus	oesophagus
29	chr8:96225600-96228000	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr8:96225600-96236200	Weak transcription	Gastric	stomach
31	chr8:96226000-96227400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:96226000-96227400	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr8:96226000-96227600	Enhancers	Right Ventricle	heart
34	chr8:96226000-96228800	Enhancers	Fetal Muscle Leg	muscle
35	chr8:96226200-96227400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr8:96226200-96227600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:96226200-96227600	Enhancers	Fetal Muscle Trunk	muscle
38	chr8:96226200-96227600	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr8:96226400-96227600	Enhancers	Adipose Nuclei	Adipose
40	chr8:96226400-96227600	Enhancers	Right Atrium	heart
41	chr8:96226400-96227800	Enhancers	Aorta	Aorta
42	chr8:96226400-96228200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr8:96226400-96228800	Enhancers	Left Ventricle	heart
44	chr8:96226400-96229400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr8:96226600-96227600	Enhancers	Duodenum Mucosa	Duodenum
46	chr8:96226600-96231800	Enhancers	K562	blood
47	chr8:96226800-96227400	Enhancers	Liver	Liver
48	chr8:96226800-96230000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:96227000-96227600	Weak transcription	Brain Hippocampus Middle	brain
50	chr8:96227000-96231200	Weak transcription	Psoas Muscle	Psoas

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