Variant report

Variant	rs16930869
Chromosome Location	chr8:48707335-48707336
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48702667..48704261-chr8:48706616..48708531,2	K562	blood:
2	chr8:48702761..48704523-chr8:48706804..48708531,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11992284	1.00[YRI][hapmap]
rs11993362	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11998024	1.00[YRI][hapmap]
rs17287761	0.83[AMR][1000 genomes]
rs17334409	1.00[AMR][1000 genomes]
rs17334458	0.83[AMR][1000 genomes]
rs41390145	0.85[MKK][hapmap];0.83[AMR][1000 genomes]
rs41528455	0.85[MKK][hapmap]
rs56110471	0.83[AMR][1000 genomes]
rs56411879	0.83[AMR][1000 genomes]
rs6473933	0.87[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7014911	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7814331	0.83[AMR][1000 genomes]
rs7837384	0.83[AMR][1000 genomes]
rs7840736	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8178010	0.83[AMR][1000 genomes]
rs8178033	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs8178042	1.00[AMR][1000 genomes]
rs8178153	1.00[AMR][1000 genomes]
rs8178193	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8178228	0.83[AMR][1000 genomes]
rs8178267	0.83[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	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1026287	chr8:48615720-48710849	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1016915	chr8:48653136-48710849	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv539597	chr8:48653136-48710849	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv1021389	chr8:48700970-48880931	Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv539599	chr8:48700970-48880931	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48679800-48709600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:48684000-48721000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:48684000-48722200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:48684200-48733800	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr8:48684200-48733800	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr8:48684200-48734200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr8:48684400-48755200	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr8:48684400-48778800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:48684400-48861600	Strong transcription	Dnd41	blood
10	chr8:48684600-48721400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr8:48684800-48728200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr8:48685000-48713200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:48685000-48818800	Strong transcription	Fetal Thymus	thymus
14	chr8:48685200-48707600	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr8:48685200-48713400	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr8:48685200-48734000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr8:48685600-48733600	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr8:48687400-48719800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:48689200-48708200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:48691200-48710200	Weak transcription	Fetal Heart	heart
21	chr8:48691800-48709600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr8:48693000-48720200	Strong transcription	Primary B cells from peripheral blood	blood
23	chr8:48693800-48751000	Weak transcription	Right Atrium	heart
24	chr8:48695200-48710200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:48696400-48709000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr8:48698000-48708200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:48699800-48707400	Strong transcription	A549	lung
28	chr8:48699800-48709600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:48699800-48716400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr8:48699800-48720000	Strong transcription	Liver	Liver
31	chr8:48700000-48758800	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr8:48700200-48707400	Strong transcription	Duodenum Mucosa	Duodenum
33	chr8:48700200-48707400	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr8:48700200-48707600	Strong transcription	Adipose Nuclei	Adipose
35	chr8:48700200-48720400	Strong transcription	Primary T cells from cord blood	blood
36	chr8:48701200-48709000	Weak transcription	HepG2	liver
37	chr8:48701200-48709600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr8:48701200-48709600	Weak transcription	Colonic Mucosa	Colon
39	chr8:48701200-48709600	Weak transcription	Pancreas	Pancrea
40	chr8:48701200-48709800	Weak transcription	Gastric	stomach
41	chr8:48701200-48710000	Weak transcription	Psoas Muscle	Psoas
42	chr8:48701400-48729400	Weak transcription	Small Intestine	intestine
43	chr8:48701800-48710400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr8:48702800-48708600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:48703000-48707600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr8:48703000-48720000	Strong transcription	Fetal Intestine Large	intestine
47	chr8:48703000-48733600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr8:48703000-48761800	Weak transcription	Stomach Mucosa	stomach
49	chr8:48703200-48720000	Strong transcription	Stomach Smooth Muscle	stomach
50	chr8:48703200-48723800	Strong transcription	Cortex derived primary cultured neurospheres	brain

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