Variant report

Variant	rs59830293
Chromosome Location	chr8:8897278-8897279
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8896936..8899886-chr8:8901457..8903886,3	K562	blood:
2	chr8:8887468..8889521-chr8:8895907..8897464,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10091950	1.00[AMR][1000 genomes]
rs10100756	1.00[AMR][1000 genomes]
rs10107835	1.00[AMR][1000 genomes]
rs10107838	1.00[AMR][1000 genomes]
rs10113601	1.00[AMR][1000 genomes]
rs28500648	1.00[AMR][1000 genomes]
rs28587309	1.00[AMR][1000 genomes]
rs28692621	1.00[AMR][1000 genomes]
rs34911286	1.00[AMR][1000 genomes]
rs57169303	1.00[AMR][1000 genomes]
rs59978283	1.00[AMR][1000 genomes]
rs60317720	1.00[AMR][1000 genomes]
rs61240251	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73662248	1.00[AMR][1000 genomes]
rs73662280	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73662281	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73662282	1.00[AMR][1000 genomes]
rs73662283	1.00[AMR][1000 genomes]
rs73662284	1.00[AMR][1000 genomes]
rs73662285	1.00[AMR][1000 genomes]
rs73662287	1.00[AMR][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	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 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	chr8:8861400-8907000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:8861800-8897800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:8861800-8915600	Weak transcription	Pancreas	Pancrea
4	chr8:8871200-8900000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:8875400-8901200	Weak transcription	Thymus	Thymus
6	chr8:8876400-8898000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:8877000-8903400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr8:8881000-8900400	Weak transcription	NH-A	brain
9	chr8:8883200-8898400	Weak transcription	Fetal Kidney	kidney
10	chr8:8883600-8902400	Weak transcription	Adipose Nuclei	Adipose
11	chr8:8883800-8897800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:8883800-8906000	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr8:8884000-8900200	Weak transcription	Left Ventricle	heart
14	chr8:8884000-8906200	Weak transcription	Psoas Muscle	Psoas
15	chr8:8887000-8897400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:8887800-8897600	Weak transcription	GM12878-XiMat	blood
17	chr8:8888400-8910800	Weak transcription	Hela-S3	cervix
18	chr8:8890400-8897400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:8890800-8897400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr8:8890800-8897600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr8:8891000-8914800	Weak transcription	Fetal Stomach	stomach
22	chr8:8891200-8897600	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr8:8891200-8897800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:8891200-8897800	Weak transcription	Fetal Muscle Leg	muscle
25	chr8:8891400-8897600	Weak transcription	Placenta	Placenta
26	chr8:8891400-8897600	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr8:8891400-8915200	Weak transcription	K562	blood
28	chr8:8892000-8901800	Weak transcription	Primary B cells from cord blood	blood
29	chr8:8892800-8897600	Weak transcription	Stomach Mucosa	stomach
30	chr8:8892800-8897800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr8:8893600-8898000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr8:8893800-8913800	Weak transcription	Primary T cells from cord blood	blood
33	chr8:8894000-8897800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:8894600-8897600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr8:8894600-8897600	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr8:8894600-8898000	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr8:8894600-8898200	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr8:8894600-8899000	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr8:8894800-8897600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr8:8895000-8898200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:8895000-8898200	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr8:8895400-8897400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:8895400-8897800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:8896000-8897600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr8:8896200-8897400	Weak transcription	HMEC	breast
46	chr8:8896200-8897600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr8:8896200-8897600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:8896200-8897800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr8:8896200-8897800	Weak transcription	Fetal Heart	heart
50	chr8:8896400-8897400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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