Variant report

Variant	rs73598756
Chromosome Location	chr14:24400670-24400671
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	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17099223	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17099230	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17099242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58328116	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73598744	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73598751	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73598754	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73598755	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73598757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598759	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8005368	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8005541	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8019962	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8020121	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8020612	0.96[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
rs73598756	DHRS4L2	cis	Nerve Tibial	GTEx
rs73598756	DHRS4-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs73598756	DHRS4-AS1	cis	Artery Tibial	GTEx

Chromatin state (count:37 , 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	chr14:24398600-24400800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr14:24399000-24400800	Enhancers	Stomach Smooth Muscle	stomach
5	chr14:24399000-24401800	Enhancers	Liver	Liver
6	chr14:24399200-24400800	Enhancers	Fetal Stomach	stomach
7	chr14:24399200-24401000	Enhancers	K562	blood
8	chr14:24399200-24402200	Enhancers	Rectal Smooth Muscle	rectum
9	chr14:24399200-24403000	Enhancers	Fetal Intestine Large	intestine
10	chr14:24399200-24408800	Weak transcription	Lung	lung
11	chr14:24399400-24401400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr14:24399400-24404800	Weak transcription	Pancreas	Pancrea
13	chr14:24399400-24408200	Weak transcription	Left Ventricle	heart
14	chr14:24399400-24410000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr14:24399400-24411000	Weak transcription	Brain Anterior Caudate	brain
16	chr14:24399600-24409000	Weak transcription	Brain Hippocampus Middle	brain
17	chr14:24399600-24409200	Weak transcription	Brain Germinal Matrix	brain
18	chr14:24400000-24400800	Enhancers	Aorta	Aorta
19	chr14:24400000-24401200	Weak transcription	HepG2	liver
20	chr14:24400000-24401600	Enhancers	Stomach Mucosa	stomach
21	chr14:24400000-24408400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr14:24400000-24420000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr14:24400200-24401400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr14:24400400-24400800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:24400400-24402600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr14:24400400-24402600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr14:24400400-24402600	Weak transcription	Fetal Lung	lung
28	chr14:24400400-24411800	Weak transcription	HMEC	breast
29	chr14:24400600-24401800	Weak transcription	Ovary	ovary
30	chr14:24400600-24402200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr14:24400600-24402400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr14:24400600-24405600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr14:24400600-24405600	Weak transcription	Adipose Nuclei	Adipose
34	chr14:24400600-24408600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr14:24400600-24408800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr14:24400600-24409600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr14:24400600-24421000	Weak transcription	Colon Smooth Muscle	Colon

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