Variant report

Variant	rs10483284
Chromosome Location	chr14:24401749-24401750
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:24195357..24197443-chr14:24399348..24402008,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17099223	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17099230	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17099242	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17099424	1.00[CEU][hapmap]
rs58328116	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73598744	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73598751	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73598754	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73598755	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73598756	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598757	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598759	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003537	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8005368	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8005541	0.91[ASW][hapmap];1.00[CEU][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.87[TSI][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8019962	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8020121	1.00[CEU][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8020612	0.91[AMR][1000 genomes];0.96[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	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	nsv525015	chr14:24401749-24406306	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs10483284	DHRS4-AS1	cis	Artery Tibial	GTEx
rs10483284	DHRS4	cis	multi-tissue	Pritchard
rs10483284	DHRS4L2	cis	multi-tissue	Pritchard
rs10483284	DHRS4L2	cis	Nerve Tibial	GTEx
rs10483284	DHRS4-AS1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24398400-24403000	Enhancers	Fetal Intestine Small	intestine
2	chr14:24399000-24401800	Enhancers	Liver	Liver
3	chr14:24399200-24402200	Enhancers	Rectal Smooth Muscle	rectum
4	chr14:24399200-24403000	Enhancers	Fetal Intestine Large	intestine
5	chr14:24399200-24408800	Weak transcription	Lung	lung
6	chr14:24399400-24404800	Weak transcription	Pancreas	Pancrea
7	chr14:24399400-24408200	Weak transcription	Left Ventricle	heart
8	chr14:24399400-24410000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr14:24399400-24411000	Weak transcription	Brain Anterior Caudate	brain
10	chr14:24399600-24409000	Weak transcription	Brain Hippocampus Middle	brain
11	chr14:24399600-24409200	Weak transcription	Brain Germinal Matrix	brain
12	chr14:24400000-24408400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr14:24400000-24420000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr14:24400400-24402600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr14:24400400-24402600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr14:24400400-24402600	Weak transcription	Fetal Lung	lung
17	chr14:24400400-24411800	Weak transcription	HMEC	breast
18	chr14:24400600-24401800	Weak transcription	Ovary	ovary
19	chr14:24400600-24402200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:24400600-24402400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:24400600-24405600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr14:24400600-24405600	Weak transcription	Adipose Nuclei	Adipose
23	chr14:24400600-24408600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:24400600-24408800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr14:24400600-24409600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr14:24400600-24421000	Weak transcription	Colon Smooth Muscle	Colon
27	chr14:24400800-24401800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr14:24400800-24402400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr14:24400800-24408600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr14:24400800-24409000	Weak transcription	Aorta	Aorta
31	chr14:24401200-24403200	Enhancers	Fetal Stomach	stomach
32	chr14:24401400-24402800	Enhancers	Fetal Kidney	kidney
33	chr14:24401400-24403000	Enhancers	Duodenum Mucosa	Duodenum
34	chr14:24401400-24404000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr14:24401400-24409800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr14:24401600-24402000	Enhancers	K562	blood
37	chr14:24401600-24404200	Weak transcription	Stomach Mucosa	stomach

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