Variant report

Variant	rs73598759
Chromosome Location	chr14:24401309-24401310
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: 19 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10483284	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17099223	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17099230	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17099242	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58328116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73598744	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73598751	0.98[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	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598757	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003537	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8005368	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8005541	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8019962	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8020121	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:2 , 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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs73598759	DHRS4L2	cis	Nerve Tibial	GTEx
rs73598759	DHRS4-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs73598759	DHRS4-AS1	cis	Artery Tibial	GTEx

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24395600-24401400	Weak transcription	Fetal Kidney	kidney
2	chr14:24398400-24403000	Enhancers	Fetal Intestine Small	intestine
3	chr14:24399000-24401800	Enhancers	Liver	Liver
4	chr14:24399200-24402200	Enhancers	Rectal Smooth Muscle	rectum
5	chr14:24399200-24403000	Enhancers	Fetal Intestine Large	intestine
6	chr14:24399200-24408800	Weak transcription	Lung	lung
7	chr14:24399400-24401400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr14:24399400-24404800	Weak transcription	Pancreas	Pancrea
9	chr14:24399400-24408200	Weak transcription	Left Ventricle	heart
10	chr14:24399400-24410000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr14:24399400-24411000	Weak transcription	Brain Anterior Caudate	brain
12	chr14:24399600-24409000	Weak transcription	Brain Hippocampus Middle	brain
13	chr14:24399600-24409200	Weak transcription	Brain Germinal Matrix	brain
14	chr14:24400000-24401600	Enhancers	Stomach Mucosa	stomach
15	chr14:24400000-24408400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr14:24400000-24420000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr14:24400200-24401400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr14:24400400-24402600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr14:24400400-24402600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:24400400-24402600	Weak transcription	Fetal Lung	lung
21	chr14:24400400-24411800	Weak transcription	HMEC	breast
22	chr14:24400600-24401800	Weak transcription	Ovary	ovary
23	chr14:24400600-24402200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr14:24400600-24402400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr14:24400600-24405600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr14:24400600-24405600	Weak transcription	Adipose Nuclei	Adipose
27	chr14:24400600-24408600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr14:24400600-24408800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr14:24400600-24409600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr14:24400600-24421000	Weak transcription	Colon Smooth Muscle	Colon
31	chr14:24400800-24401800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr14:24400800-24402400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr14:24400800-24408600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr14:24400800-24409000	Weak transcription	Aorta	Aorta
35	chr14:24401000-24401600	Flanking Active TSS	K562	blood
36	chr14:24401200-24401400	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr14:24401200-24401400	Enhancers	HepG2	liver
38	chr14:24401200-24403200	Enhancers	Fetal Stomach	stomach

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