Variant report

Variant	rs2296176
Chromosome Location	chr1:114424077-114424078
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:114422775..114425297-chr1:114447474..114449875,3	K562	blood:
2	chr1:114422394..114424158-chr1:114443747..114445453,2	MCF-7	breast:
3	chr1:114415189..114417454-chr1:114422016..114424443,3	MCF-7	breast:
4	chr1:114423797..114426285-chr1:114447474..114448994,2	K562	blood:
5	chr1:114422767..114425091-chr1:114429070..114430741,2	MCF-7	breast:
6	chr1:114423024..114425877-chr1:114445566..114448477,2	MCF-7	breast:
7	chr1:114355025..114356845-chr1:114423223..114425044,2	MCF-7	breast:
8	chr1:114330552..114332424-chr1:114422086..114424136,2	K562	blood:
9	chr1:114418599..114421976-chr1:114424069..114426568,3	MCF-7	breast:
10	chr1:114422775..114424966-chr1:114437779..114439803,2	K562	blood:
11	chr1:114422800..114426038-chr1:114435058..114437356,3	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BCL2L15-1	chr1:114420790-114424619	NONHSAT005342

No data

Variant related genes	Relation type
ENSG00000081019	Chromatin interaction
ENSG00000231128	Chromatin interaction
ENSG00000188761	Chromatin interaction
ENSG00000134262	Chromatin interaction
ENSG00000118655	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs17464525	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv1826178	chr1:114331645-114471583	Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	esv1842398	chr1:114331645-114471583	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv1848035	chr1:114331645-114471583	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats 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 target site	57 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2296176	AP4B1	cis	multi-tissue	Pritchard
rs2296176	DCLRE1B	Cis_1M	lymphoblastoid	RTeQTL
rs2296176	AP4B1-AS1	cis	Whole Blood	GTEx

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114415000-114447000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:114415400-114428800	Weak transcription	Colonic Mucosa	Colon
3	chr1:114415400-114437000	Weak transcription	Thymus	Thymus
4	chr1:114417200-114437000	Weak transcription	Primary B cells from cord blood	blood
5	chr1:114417600-114428800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr1:114419000-114427800	Weak transcription	Pancreas	Pancrea
7	chr1:114420200-114437800	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:114420200-114446400	Weak transcription	Aorta	Aorta
9	chr1:114421000-114424200	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr1:114421000-114424600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr1:114421000-114424600	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr1:114421000-114424800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:114421200-114424400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr1:114421600-114424600	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr1:114421600-114424600	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr1:114421800-114424800	Enhancers	Dnd41	blood
17	chr1:114421800-114429600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:114422400-114429000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:114422600-114424200	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr1:114422600-114424200	Flanking Active TSS	GM12878-XiMat	blood
21	chr1:114422800-114424200	Weak transcription	Fetal Intestine Small	intestine
22	chr1:114422800-114429000	Weak transcription	Fetal Stomach	stomach
23	chr1:114423000-114428000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr1:114423200-114424200	Enhancers	Primary T cells from cord blood	blood
25	chr1:114423200-114424200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:114423400-114424200	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr1:114423400-114424600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr1:114423400-114424600	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr1:114423400-114429600	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr1:114423600-114424600	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr1:114423600-114424600	Enhancers	Stomach Mucosa	stomach
32	chr1:114423600-114425000	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr1:114423600-114436000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:114423800-114424200	Genic enhancers	Duodenum Mucosa	Duodenum
35	chr1:114423800-114424600	Enhancers	Primary hematopoietic stem cells	blood
36	chr1:114423800-114424600	Enhancers	Small Intestine	intestine
37	chr1:114423800-114424800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:114423800-114425400	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr1:114424000-114424400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr1:114424000-114424600	Enhancers	Fetal Intestine Large	intestine
41	chr1:114424000-114426400	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr1:114424000-114429000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr1:114424000-114429800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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