Variant report

Variant	rs2078856
Chromosome Location	chr22:30614437-30614438
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30605936..30608865-chr22:30612032..30614985,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16988402	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16988410	0.97[ASN][1000 genomes]
rs2073946	0.80[ASN][1000 genomes]
rs67087719	0.82[AMR][1000 genomes];1.00[ASN][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	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2078856	CEP70	trans	lymphoblastoid	seeQTL

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30605600-30622600	Weak transcription	Right Atrium	heart
2	chr22:30609600-30615200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr22:30609600-30616200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr22:30609800-30614600	Weak transcription	Hela-S3	cervix
5	chr22:30609800-30615200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr22:30609800-30615200	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr22:30609800-30616400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr22:30609800-30616600	Weak transcription	Spleen	Spleen
9	chr22:30609800-30617800	Weak transcription	Esophagus	oesophagus
10	chr22:30610600-30615600	Enhancers	K562	blood
11	chr22:30610800-30615200	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr22:30611200-30624800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr22:30611400-30616200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr22:30611600-30615200	Weak transcription	Fetal Thymus	thymus
15	chr22:30611600-30615800	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr22:30612600-30615600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr22:30612600-30615600	Enhancers	Fetal Intestine Small	intestine
18	chr22:30613000-30615600	Enhancers	Fetal Intestine Large	intestine
19	chr22:30613000-30615800	Enhancers	A549	lung
20	chr22:30613400-30614600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr22:30613400-30614600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr22:30613400-30614600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr22:30613400-30614600	Enhancers	HSMMtube	muscle
24	chr22:30613400-30614600	Enhancers	NHDF-Ad	bronchial
25	chr22:30613400-30614600	Enhancers	NHLF	lung
26	chr22:30613400-30614600	Enhancers	Osteobl	bone
27	chr22:30613400-30614800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr22:30613400-30615600	Enhancers	HMEC	breast
29	chr22:30613600-30614600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr22:30613600-30614600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr22:30613600-30614600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr22:30613600-30614600	Bivalent Enhancer	Fetal Muscle Leg	muscle
33	chr22:30613600-30614600	Enhancers	HepG2	liver
34	chr22:30613600-30614800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr22:30613600-30615400	Enhancers	Fetal Stomach	stomach
36	chr22:30614000-30614600	Enhancers	Placenta	Placenta
37	chr22:30614000-30615200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr22:30614400-30614600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr22:30614400-30614600	Enhancers	Thymus	Thymus
40	chr22:30614400-30615000	Weak transcription	Dnd41	blood
41	chr22:30614400-30615400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr22:30614400-30615400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr22:30614400-30616200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr22:30614400-30616400	Weak transcription	Duodenum Mucosa	Duodenum
45	chr22:30614400-30616600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr22:30614400-30619200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr22:30614400-30619200	Weak transcription	NH-A	brain
48	chr22:30614400-30624800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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