Variant report

Variant	rs3212254
Chromosome Location	chr14:24805463-24805464
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:24804845-24805467	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr14:24804864-24805492	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
ENSG00000129465	Chromatin interaction
ENSG00000100445	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000129467	Chromatin interaction
ENSG00000100441	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10483285	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1124644	1.00[CHB][hapmap];0.93[CHD][hapmap]
rs12895908	0.88[ASN][1000 genomes]
rs17102976	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs2332324	0.88[ASN][1000 genomes]
rs28561820	0.93[ASN][1000 genomes]
rs3212241	0.89[ASN][1000 genomes]
rs3212245	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs4982897	0.81[ASN][1000 genomes]
rs57167043	0.93[ASN][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3212254	DHRS1	cis	lymphoblastoid	seeQTL

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24804200-24806200	Weak transcription	Esophagus	oesophagus
2	chr14:24804400-24805600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr14:24804400-24805600	Enhancers	Spleen	Spleen
4	chr14:24804400-24806000	Enhancers	Primary hematopoietic stem cells	blood
5	chr14:24804400-24806200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr14:24804400-24807800	Weak transcription	Pancreas	Pancrea
7	chr14:24804600-24805600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
8	chr14:24804600-24805600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:24804600-24805600	Bivalent Enhancer	Fetal Intestine Small	intestine
10	chr14:24804600-24805600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
11	chr14:24804600-24806000	Enhancers	Placenta	Placenta
12	chr14:24804600-24806200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr14:24804600-24806200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr14:24804600-24806800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:24804600-24807200	Weak transcription	Right Atrium	heart
16	chr14:24804600-24807400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr14:24804600-24808000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
18	chr14:24804600-24808200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr14:24804800-24805600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr14:24804800-24805600	Bivalent Enhancer	Fetal Muscle Leg	muscle
21	chr14:24804800-24805800	Enhancers	HUVEC	blood vessel
22	chr14:24804800-24805800	Enhancers	NHDF-Ad	bronchial
23	chr14:24804800-24806000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr14:24804800-24806200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr14:24804800-24807800	Bivalent Enhancer	HepG2	liver
26	chr14:24804800-24808000	Weak transcription	Liver	Liver
27	chr14:24805000-24805600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr14:24805000-24805600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:24805000-24805600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr14:24805000-24805600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
31	chr14:24805000-24805800	Genic enhancers	Lung	lung
32	chr14:24805000-24807400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr14:24805000-24807800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr14:24805000-24807800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr14:24805000-24807800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr14:24805000-24808000	Weak transcription	Small Intestine	intestine
37	chr14:24805200-24805600	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr14:24805200-24805600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr14:24805200-24805800	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr14:24805200-24806800	Strong transcription	Gastric	stomach
41	chr14:24805200-24807000	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr14:24805200-24807400	Genic enhancers	Primary B cells from cord blood	blood
43	chr14:24805200-24807400	Weak transcription	Adipose Nuclei	Adipose
44	chr14:24805200-24807600	Strong transcription	Primary B cells from peripheral blood	blood
45	chr14:24805200-24807800	Weak transcription	Right Ventricle	heart
46	chr14:24805400-24805600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
47	chr14:24805400-24805600	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr14:24805400-24805600	Genic enhancers	Primary T cells fromperipheralblood	blood
49	chr14:24805400-24805600	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr14:24805400-24805600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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