Variant report

Variant	rs2295300
Chromosome Location	chr14:24805117-24805118
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr14:24805085-24805147	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr14:24804845-24805467	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr14:24802615-24805178	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr14:24804864-24805492	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr14:24804907-24805248	HUVEC	blood vessel:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24796718..24800207-chr14:24803965..24807105,3	MCF-7	breast:
2	chr14:24789439..24822082-chr14:24898039..24913135,99	MCF-7	breast:
3	chr14:24791358..24808812-chr14:24895309..24913599,55	K562	blood:
4	chr14:24803661..24805578-chr14:24807953..24810050,2	K562	blood:
5	chr14:24781460..24810019-chr14:24892340..24914262,110	MCF-7	breast:

No data

Variant related genes	Relation type
ADCY4	TF binding region
ENSG00000139899	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000100445	Chromatin interaction
ENSG00000129465	Chromatin interaction
ENSG00000129467	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10459527	0.84[EUR][1000 genomes]
rs1109152	0.94[CEU][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1109153	0.81[CEU][hapmap]
rs12433338	0.84[ASW][hapmap]
rs12436194	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12436417	0.85[CEU][hapmap]
rs17184689	0.89[CEU][hapmap];0.88[TSI][hapmap];0.84[EUR][1000 genomes]
rs2877642	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3181251	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3212242	1.00[ASW][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3212243	1.00[ASW][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3212260	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7153640	1.00[YRI][hapmap]
rs8008406	1.00[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs882726	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv564060	chr14:24776401-24809795	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs2295300	OR9G4	trans	parietal	SCAN
rs2295300	NYNRIN	cis	cerebellum	SCAN
rs2295300	OR11H6	cis	parietal	SCAN
rs2295300	NGDN	cis	parietal	SCAN
rs2295300	NFATC4	cis	cerebellum	SCAN
rs2295300	ADCY4	cis	cerebellum	SCAN
rs2295300	LTB4R	cis	Thyroid	GTEx
rs2295300	DHRS1	cis	cerebellum	SCAN
rs2295300	CMA1	cis	cerebellum	SCAN
rs2295300	ADCY4	cis	multi-tissue	Pritchard

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24801800-24805400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr14:24802800-24805200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
3	chr14:24803000-24805400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:24803400-24805400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
5	chr14:24803600-24805200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr14:24803600-24805400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr14:24804000-24805200	Enhancers	Primary B cells from cord blood	blood
8	chr14:24804200-24805400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr14:24804200-24805400	Bivalent Enhancer	Fetal Thymus	thymus
10	chr14:24804200-24806200	Weak transcription	Esophagus	oesophagus
11	chr14:24804400-24805200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr14:24804400-24805200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr14:24804400-24805400	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr14:24804400-24805400	Flanking Active TSS	Osteobl	bone
15	chr14:24804400-24805600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr14:24804400-24805600	Enhancers	Spleen	Spleen
17	chr14:24804400-24806000	Enhancers	Primary hematopoietic stem cells	blood
18	chr14:24804400-24806200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr14:24804400-24807800	Weak transcription	Pancreas	Pancrea
20	chr14:24804600-24805200	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr14:24804600-24805200	Weak transcription	Gastric	stomach
22	chr14:24804600-24805400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr14:24804600-24805600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
24	chr14:24804600-24805600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
25	chr14:24804600-24805600	Bivalent Enhancer	Fetal Intestine Small	intestine
26	chr14:24804600-24805600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
27	chr14:24804600-24806000	Enhancers	Placenta	Placenta
28	chr14:24804600-24806200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr14:24804600-24806200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr14:24804600-24806800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr14:24804600-24807200	Weak transcription	Right Atrium	heart
32	chr14:24804600-24807400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr14:24804600-24808000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
34	chr14:24804600-24808200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr14:24804800-24805200	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
36	chr14:24804800-24805200	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr14:24804800-24805200	Enhancers	Adipose Nuclei	Adipose
38	chr14:24804800-24805200	Bivalent Enhancer	Right Ventricle	heart
39	chr14:24804800-24805400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
40	chr14:24804800-24805400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
41	chr14:24804800-24805400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr14:24804800-24805400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr14:24804800-24805400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr14:24804800-24805400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr14:24804800-24805400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr14:24804800-24805400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr14:24804800-24805400	Bivalent Enhancer	Left Ventricle	heart
48	chr14:24804800-24805400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr14:24804800-24805400	Bivalent Enhancer	NHLF	lung
50	chr14:24804800-24805600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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