Variant report

Variant	rs112782991
Chromosome Location	chr14:24414811-24414812
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 20 )

Variant overlapped rSNPs/rCNVs (count:11 , 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

mRNA abundance (count:20)

SNP	Gene	Cis/trans	Tissue	Source
rs112782991	DHRS4	cis	Muscle Skeletal	GTEx
rs112782991	DHRS4-AS1	cis	Thyroid	GTEx
rs112782991	DHRS4L2	cis	Artery Tibial	GTEx
rs112782991	DHRS4L2	cis	Esophagus Muscularis	GTEx
rs112782991	DHRS4-AS1	cis	lung	GTEx
rs112782991	DHRS4-AS1	cis	Nerve Tibial	GTEx
rs112782991	DHRS4-AS1	cis	Artery Tibial	GTEx
rs112782991	DHRS4L2	cis	Artery Aorta	GTEx
rs112782991	DHRS4L2	cis	Adipose Subcutaneous	GTEx
rs112782991	DHRS4-AS1	cis	Esophagus Muscularis	GTEx
rs112782991	DHRS4-AS1	cis	Artery Aorta	GTEx
rs112782991	DHRS4L2	cis	Muscle Skeletal	GTEx
rs112782991	DHRS4L2	cis	Heart Left Ventricle	GTEx
rs112782991	DHRS4	cis	Artery Aorta	GTEx
rs112782991	DHRS4-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs112782991	DHRS4	cis	Artery Tibial	GTEx
rs112782991	DHRS4-AS1	cis	Whole Blood	GTEx
rs112782991	DHRS4-AS1	cis	Stomach	GTEx
rs112782991	DHRS4-AS1	cis	Adipose Subcutaneous	GTEx
rs112782991	DHRS4-AS1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24400000-24420000	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr14:24400600-24421000	Weak transcription	Colon Smooth Muscle	Colon
3	chr14:24402200-24421200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr14:24405600-24422400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr14:24405800-24421400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr14:24405800-24422400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr14:24406600-24416200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:24407000-24420000	Weak transcription	HSMM	muscle
9	chr14:24407000-24421000	Weak transcription	Fetal Intestine Large	intestine
10	chr14:24407000-24421200	Weak transcription	Fetal Kidney	kidney
11	chr14:24407400-24422400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr14:24407600-24422200	Weak transcription	Primary B cells from cord blood	blood
13	chr14:24407800-24422400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr14:24408400-24421200	Weak transcription	Brain Substantia Nigra	brain
15	chr14:24408600-24419600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr14:24409800-24421000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr14:24410200-24420800	Weak transcription	Spleen	Spleen
18	chr14:24410200-24421000	Weak transcription	Left Ventricle	heart
19	chr14:24410400-24419600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr14:24410400-24421000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:24410400-24421000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr14:24410400-24421000	Weak transcription	Brain Hippocampus Middle	brain
23	chr14:24410400-24421000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr14:24410400-24421200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr14:24410600-24419400	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr14:24410600-24420600	Weak transcription	Ovary	ovary
27	chr14:24410600-24420800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr14:24410600-24421000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr14:24410600-24421200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr14:24410600-24421800	Weak transcription	Primary B cells from peripheral blood	blood
31	chr14:24410800-24420000	Weak transcription	Adipose Nuclei	Adipose
32	chr14:24410800-24420200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr14:24410800-24420600	Weak transcription	Fetal Muscle Leg	muscle
34	chr14:24410800-24420800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr14:24410800-24421000	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr14:24410800-24421000	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr14:24410800-24421800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr14:24410800-24422000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr14:24410800-24422400	Weak transcription	Aorta	Aorta
40	chr14:24411000-24420800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr14:24411000-24421000	Weak transcription	Fetal Muscle Trunk	muscle
42	chr14:24411200-24417400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr14:24411400-24420800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr14:24412000-24420800	Weak transcription	Lung	lung
45	chr14:24412200-24415400	Weak transcription	Fetal Stomach	stomach
46	chr14:24412200-24422400	Weak transcription	Esophagus	oesophagus
47	chr14:24412400-24415000	Weak transcription	Fetal Intestine Small	intestine
48	chr14:24412400-24420800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr14:24413600-24421400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr14:24414000-24415200	Weak transcription	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links