Variant report

Variant	rs8142884
Chromosome Location	chr22:30656406-30656407
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30653628..30656745-chr22:30682810..30685756,3	MCF-7	breast:
2	chr22:30654489..30656538-chr22:30791519..30793773,2	MCF-7	breast:
3	chr22:30656185..30656767-chr22:30682469..30683452,2	MCF-7	breast:
4	chr22:30655306..30657040-chr22:30785733..30787462,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100003	Chromatin interaction
ENSG00000239282	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12166309	1.00[EUR][1000 genomes]
rs12169153	1.00[EUR][1000 genomes]
rs16988421	1.00[EUR][1000 genomes]
rs16988425	1.00[EUR][1000 genomes]
rs35032582	1.00[EUR][1000 genomes]
rs56897799	1.00[EUR][1000 genomes]
rs5997599	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6006413	1.00[EUR][1000 genomes]
rs6006417	1.00[EUR][1000 genomes]
rs60836642	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61732271	1.00[EUR][1000 genomes]
rs7291157	1.00[EUR][1000 genomes]
rs73404556	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73881424	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73883356	1.00[EUR][1000 genomes]
rs9620975	1.00[EUR][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	nsv834173	chr22:30515092-30658277	Enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv432239	chr22:30580161-30669883	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv914968	chr22:30610570-30693581	Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv914969	chr22:30619599-30691631	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription 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	51 gene(s)	inside rSNPs	diseases
7	nsv834174	chr22:30619760-30746915	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	nsv914971	chr22:30640308-30691631	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv914972	chr22:30640308-30693581	Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv1062388	chr22:30649179-30711443	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30643600-30658400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr22:30647400-30659000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr22:30649000-30658400	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr22:30649000-30659000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr22:30649200-30657000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr22:30649800-30657200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr22:30649800-30657200	Weak transcription	Esophagus	oesophagus
8	chr22:30649800-30657400	Weak transcription	Dnd41	blood
9	chr22:30649800-30657400	Weak transcription	HMEC	breast
10	chr22:30649800-30659000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr22:30650000-30661400	Weak transcription	GM12878-XiMat	blood
12	chr22:30651800-30657600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr22:30652400-30656800	Weak transcription	Primary B cells from cord blood	blood
14	chr22:30652400-30659000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr22:30652400-30659000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr22:30652600-30658400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr22:30652800-30659200	Weak transcription	K562	blood
18	chr22:30653200-30659200	Weak transcription	Spleen	Spleen
19	chr22:30653600-30659800	Enhancers	Fetal Thymus	thymus
20	chr22:30653800-30659000	Weak transcription	Osteobl	bone
21	chr22:30654000-30657400	Weak transcription	NHEK	skin
22	chr22:30654400-30656600	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr22:30654400-30657200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr22:30654400-30657400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr22:30654400-30657600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr22:30654400-30658400	Weak transcription	NH-A	brain
27	chr22:30654400-30659000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr22:30654600-30658200	Weak transcription	Primary T cells from cord blood	blood
29	chr22:30654600-30658200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr22:30654600-30659000	Enhancers	A549	lung
31	chr22:30654600-30661600	Weak transcription	Thymus	Thymus
32	chr22:30654800-30656800	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr22:30655000-30657200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr22:30655200-30658600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr22:30655200-30659000	Weak transcription	Hela-S3	cervix
36	chr22:30655800-30656600	Enhancers	Fetal Intestine Small	intestine
37	chr22:30655800-30656800	Enhancers	Fetal Intestine Large	intestine
38	chr22:30656000-30656800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr22:30656200-30656600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr22:30656200-30656600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr22:30656200-30658400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr22:30656200-30660000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr22:30656200-30662000	Enhancers	Primary hematopoietic stem cells	blood
44	chr22:30656400-30656600	Enhancers	H1 Cell Line	embryonic stem cell
45	chr22:30656400-30656800	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr22:30656400-30657000	Enhancers	Placenta	Placenta
47	chr22:30656400-30657200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

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