Variant report

Variant	rs4598258
Chromosome Location	chr8:20128123-20128124
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:20117486..20119981-chr8:20127285..20130227,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11204108	0.82[JPT][hapmap]
rs11784923	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13256776	0.81[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes]
rs13259502	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13266645	0.89[ASN][1000 genomes]
rs13275384	0.82[AMR][1000 genomes]
rs13280649	0.91[JPT][hapmap];0.83[AMR][1000 genomes]
rs1497017	0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs1497018	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1532445	0.91[JPT][hapmap]
rs2132702	0.82[JPT][hapmap]
rs4436141	0.94[CEU][hapmap];0.86[CHB][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4922150	0.91[JPT][hapmap];0.83[AMR][1000 genomes]
rs7818837	0.83[JPT][hapmap]

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	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20120600-20132800	Enhancers	Primary T cells fromperipheralblood	blood
2	chr8:20122200-20128600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:20123400-20128600	Flanking Active TSS	Dnd41	blood
4	chr8:20124200-20130000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr8:20124200-20130600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr8:20124200-20130800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr8:20124600-20129000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:20125400-20129800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:20126400-20130400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:20126400-20132400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:20126600-20129600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr8:20126600-20130000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr8:20126600-20130400	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr8:20126600-20131000	Enhancers	Esophagus	oesophagus
15	chr8:20126600-20132200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:20126600-20132400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:20126600-20132600	Enhancers	Placenta	Placenta
18	chr8:20126600-20135200	Weak transcription	Right Ventricle	heart
19	chr8:20126600-20136200	Enhancers	Fetal Thymus	thymus
20	chr8:20126800-20128400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr8:20126800-20128400	Enhancers	NHEK	skin
22	chr8:20126800-20128800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr8:20126800-20129000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr8:20126800-20129000	Enhancers	Fetal Lung	lung
25	chr8:20126800-20129600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:20126800-20129800	Enhancers	Brain Anterior Caudate	brain
27	chr8:20126800-20130000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:20126800-20130000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:20126800-20130200	Weak transcription	Spleen	Spleen
30	chr8:20126800-20130400	Enhancers	NHLF	lung
31	chr8:20126800-20130800	Enhancers	HMEC	breast
32	chr8:20126800-20131200	Bivalent Enhancer	Fetal Muscle Leg	muscle
33	chr8:20126800-20135200	Weak transcription	Lung	lung
34	chr8:20126800-20135200	Weak transcription	Right Atrium	heart
35	chr8:20126800-20135400	Weak transcription	Left Ventricle	heart
36	chr8:20127000-20128400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:20127000-20128400	Enhancers	Fetal Brain Male	brain
38	chr8:20127000-20129000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:20127000-20129200	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr8:20127000-20129200	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr8:20127000-20129800	Enhancers	H9 Cell Line	embryonic stem cell
42	chr8:20127000-20130200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr8:20127000-20130200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr8:20127000-20130600	Weak transcription	Thymus	Thymus
45	chr8:20127200-20128200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr8:20127200-20128200	Enhancers	Fetal Kidney	kidney
47	chr8:20127200-20128600	Weak transcription	Brain Angular Gyrus	brain
48	chr8:20127200-20128800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
49	chr8:20127200-20128800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr8:20127200-20129000	Weak transcription	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links