Variant report

Variant	rs4048603
Chromosome Location	chr14:24422030-24422031
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:24421647-24423593	HepG2	liver:	n/a	n/a
2	HEY1	chr14:24421652-24423641	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:24197895..24200996-chr14:24421897..24424681,3	MCF-7	breast:
2	chr14:24036767..24038500-chr14:24420729..24424068,4	MCF-7	breast:
3	chr14:24421741..24423927-chr14:24582561..24584260,2	K562	blood:
4	chr14:24099084..24100809-chr14:24421080..24423663,2	MCF-7	breast:

Variant related genes	Relation type
DHRS4	TF binding region
ENSG00000258464	Chromatin interaction
ENSG00000129535	Chromatin interaction
ENSG00000100897	Chromatin interaction
ENSG00000100867	Chromatin interaction
ENSG00000213983	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 19 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10137990	0.82[AMR][1000 genomes]
rs10137992	0.82[AMR][1000 genomes]
rs10141091	0.82[AMR][1000 genomes]
rs10142568	0.82[AMR][1000 genomes]
rs10145440	0.82[AMR][1000 genomes]
rs10149094	0.82[AMR][1000 genomes]
rs10150939	0.82[AMR][1000 genomes]
rs11847840	0.82[AMR][1000 genomes]
rs11852080	0.82[AMR][1000 genomes]
rs11852089	0.82[AMR][1000 genomes]
rs17099424	0.82[AMR][1000 genomes]
rs1951736	0.82[AMR][1000 genomes]
rs1951737	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1957678	0.91[AMR][1000 genomes]
rs2273944	0.98[ASN][1000 genomes]
rs28670278	0.82[AMR][1000 genomes]
rs28693392	0.82[AMR][1000 genomes]
rs28828113	0.82[AMR][1000 genomes]
rs28836502	0.82[AMR][1000 genomes]
rs28856896	0.82[AMR][1000 genomes]
rs35687405	0.82[AMR][1000 genomes]
rs58786866	0.82[AMR][1000 genomes]
rs59297309	0.83[ASN][1000 genomes]
rs59434518	0.82[AMR][1000 genomes]
rs60177702	0.82[AMR][1000 genomes]
rs60887662	0.82[AMR][1000 genomes]
rs60901156	0.82[AMR][1000 genomes]
rs61368402	0.82[AMR][1000 genomes]
rs6573469	0.82[AMR][1000 genomes]
rs6573470	0.82[AMR][1000 genomes]
rs6573471	0.82[AMR][1000 genomes]
rs6573472	0.82[AMR][1000 genomes]
rs6573474	0.82[AMR][1000 genomes]
rs7140888	0.82[AMR][1000 genomes]
rs7141234	0.82[AMR][1000 genomes]
rs7141463	0.82[AMR][1000 genomes]
rs7141804	0.82[AMR][1000 genomes]
rs7152712	0.82[AMR][1000 genomes]
rs7152902	0.82[AMR][1000 genomes]
rs7158222	0.82[AMR][1000 genomes]
rs73600715	0.97[ASN][1000 genomes]
rs73600716	0.88[AMR][1000 genomes]
rs74036725	0.88[AMR][1000 genomes]
rs74036727	0.82[AMR][1000 genomes]
rs8007763	0.82[AMR][1000 genomes]
rs8009599	0.82[AMR][1000 genomes]
rs8010151	0.82[AMR][1000 genomes]
rs8022613	0.95[ASN][1000 genomes]
rs9323424	0.82[AMR][1000 genomes]
rs9323425	0.82[AMR][1000 genomes]
rs9323426	0.82[AMR][1000 genomes]
rs9323428	0.91[AMR][1000 genomes]
rs9323429	0.82[AMR][1000 genomes]
rs9671445	0.82[AMR][1000 genomes]
rs9671467	0.82[AMR][1000 genomes]
rs9671588	0.82[AMR][1000 genomes]
rs9671870	0.82[AMR][1000 genomes]
rs9671883	0.82[AMR][1000 genomes]
rs9805875	0.97[ASN][1000 genomes]
rs9805882	0.82[AMR][1000 genomes]
rs9805889	0.82[AMR][1000 genomes]
rs9805913	0.82[AMR][1000 genomes]
rs9806029	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3405661	chr14:24189883-24670942	Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv1217	chr14:24400565-24512689	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv89	chr14:24405198-24475213	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1049316	chr14:24405420-24583724	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
5	nsv541999	chr14:24405420-24583724	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
6	nsv564046	chr14:24412772-24480333	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1036970	chr14:24414285-24461842	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1045802	chr14:24414285-24484459	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1039814	chr14:24414285-24489426	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1047294	chr14:24414285-24500633	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv1039694	chr14:24414285-24500989	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	esv3310704	chr14:24420176-24454755	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	esv3310705	chr14:24420176-24454755	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	esv9830	chr14:24420325-24423668	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv976811	chr14:24421381-24470070	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:19)

SNP	Gene	Cis/trans	Tissue	Source
rs4048603	DHRS4	cis	Artery Tibial	GTEx
rs4048603	DHRS4-AS1	cis	Stomach	GTEx
rs4048603	DHRS4-AS1	cis	Adipose Subcutaneous	GTEx
rs4048603	DHRS4L2	cis	Adipose Subcutaneous	GTEx
rs4048603	DHRS4	cis	Artery Aorta	GTEx
rs4048603	DHRS4-AS1	cis	Whole Blood	GTEx
rs4048603	DHRS4L2	cis	Muscle Skeletal	GTEx
rs4048603	DHRS4L2	cis	Artery Aorta	GTEx
rs4048603	DHRS4	cis	Muscle Skeletal	GTEx
rs4048603	DHRS4-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs4048603	DHRS4-AS1	cis	lung	GTEx
rs4048603	DHRS4-AS1	cis	Nerve Tibial	GTEx
rs4048603	DHRS4L2	cis	Heart Left Ventricle	GTEx
rs4048603	DHRS4-AS1	cis	Esophagus Mucosa	GTEx
rs4048603	DHRS4L2	cis	Artery Tibial	GTEx
rs4048603	DHRS4-AS1	cis	Esophagus Muscularis	GTEx
rs4048603	DHRS4-AS1	cis	Thyroid	GTEx
rs4048603	DHRS4-AS1	cis	Artery Tibial	GTEx
rs4048603	DHRS4-AS1	cis	Artery Aorta	GTEx

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24405600-24422400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr14:24405800-24422400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr14:24407400-24422400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr14:24407600-24422200	Weak transcription	Primary B cells from cord blood	blood
5	chr14:24407800-24422400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr14:24410800-24422400	Weak transcription	Aorta	Aorta
7	chr14:24412200-24422400	Weak transcription	Esophagus	oesophagus
8	chr14:24419200-24422200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:24420400-24422200	Weak transcription	Primary T cells from cord blood	blood
10	chr14:24420400-24422200	Weak transcription	HSMM	muscle
11	chr14:24420400-24422400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr14:24420400-24422400	Enhancers	Placenta	Placenta
13	chr14:24420800-24422200	Enhancers	Brain Cingulate Gyrus	brain
14	chr14:24420800-24422400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:24420800-24422400	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr14:24421000-24422200	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr14:24421000-24422200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr14:24421000-24422200	Enhancers	Colon Smooth Muscle	Colon
19	chr14:24421000-24422200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr14:24421000-24422200	Enhancers	Fetal Intestine Large	intestine
21	chr14:24421000-24422400	Enhancers	Primary T cells fromperipheralblood	blood
22	chr14:24421000-24422400	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr14:24421000-24422400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr14:24421000-24422400	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr14:24421000-24422400	Enhancers	Fetal Intestine Small	intestine
26	chr14:24421000-24422400	Flanking Active TSS	HepG2	liver
27	chr14:24421000-24422600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr14:24421000-24423800	Active TSS	K562	blood
29	chr14:24421200-24422200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr14:24421200-24422200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:24421200-24422200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr14:24421200-24422200	Enhancers	Adipose Nuclei	Adipose
33	chr14:24421200-24422200	Weak transcription	Brain Germinal Matrix	brain
34	chr14:24421200-24422200	Enhancers	NHDF-Ad	bronchial
35	chr14:24421200-24422400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr14:24421200-24422400	Enhancers	Brain Substantia Nigra	brain
37	chr14:24421200-24422400	Weak transcription	Fetal Muscle Leg	muscle
38	chr14:24421200-24422400	Weak transcription	Small Intestine	intestine
39	chr14:24421200-24422800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr14:24421200-24423400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr14:24421200-24423400	Active TSS	Stomach Smooth Muscle	stomach
42	chr14:24421200-24423800	Active TSS	Fetal Kidney	kidney
43	chr14:24421400-24422200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr14:24421400-24422200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr14:24421400-24422200	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr14:24421400-24422400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr14:24421400-24422400	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr14:24421400-24422400	Weak transcription	Fetal Brain Male	brain
49	chr14:24421400-24422400	Weak transcription	Fetal Thymus	thymus
50	chr14:24421400-24422400	Weak transcription	Gastric	stomach

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