Variant report

Variant	rs8003991
Chromosome Location	chr14:24762222-24762223
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:24679583..24682789-chr14:24759113..24762719,3	K562	blood:
2	chr14:24760425..24763261-chr14:24763604..24766558,4	MCF-7	breast:
3	chr14:24710626..24712809-chr14:24761699..24764407,2	K562	blood:

Variant related genes	Relation type
ENSG00000092330	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000254505	Chromatin interaction
ENSG00000254692	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1046587	0.89[EUR][1000 genomes]
rs1051883	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12881984	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12884896	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12885593	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12887789	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12891757	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12892146	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12892419	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12892579	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12895335	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12895752	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12896386	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12896469	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2295306	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2295307	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3825586	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4982889	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4982890	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4982891	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4982892	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4982894	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7146665	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7400863	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7401804	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs747060	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs941507	0.90[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	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8003991	DHRS1	cis	Thyroid	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24741200-24768200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:24741600-24767800	Weak transcription	Fetal Brain Male	brain
3	chr14:24748000-24764800	Weak transcription	K562	blood
4	chr14:24748600-24768200	Weak transcription	Psoas Muscle	Psoas
5	chr14:24748800-24764800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr14:24749000-24768200	Weak transcription	Right Atrium	heart
7	chr14:24749400-24763800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr14:24750800-24765000	Weak transcription	NHDF-Ad	bronchial
9	chr14:24753600-24766000	Weak transcription	Fetal Heart	heart
10	chr14:24753600-24768200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:24756200-24765800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr14:24756400-24764400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr14:24756400-24765800	Strong transcription	Fetal Intestine Small	intestine
14	chr14:24757200-24764800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr14:24757400-24765000	Weak transcription	Fetal Kidney	kidney
16	chr14:24757600-24766000	Weak transcription	Stomach Mucosa	stomach
17	chr14:24757800-24766200	Strong transcription	Fetal Stomach	stomach
18	chr14:24758000-24765400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr14:24758000-24766000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr14:24758400-24762400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:24758400-24762400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr14:24758400-24765200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:24758400-24766000	Strong transcription	Fetal Intestine Large	intestine
24	chr14:24758400-24766400	Strong transcription	Fetal Muscle Trunk	muscle
25	chr14:24758600-24762400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr14:24758600-24762400	Strong transcription	Thymus	Thymus
27	chr14:24758600-24762600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr14:24758600-24762600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:24758600-24762600	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr14:24758600-24762600	Strong transcription	Stomach Smooth Muscle	stomach
31	chr14:24758600-24762800	Strong transcription	Primary T cells from cord blood	blood
32	chr14:24758600-24763800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr14:24758600-24765400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr14:24758600-24765600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr14:24758600-24765600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr14:24758600-24765800	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr14:24758600-24765800	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr14:24758600-24766000	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr14:24758600-24766000	Strong transcription	Duodenum Mucosa	Duodenum
40	chr14:24758600-24766000	Strong transcription	Placenta	Placenta
41	chr14:24758800-24762600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr14:24758800-24762600	Strong transcription	Colon Smooth Muscle	Colon
43	chr14:24758800-24762600	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr14:24758800-24763200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr14:24758800-24765600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr14:24758800-24766000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:24759200-24763200	Strong transcription	Fetal Lung	lung
48	chr14:24759400-24762400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr14:24759400-24762400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
50	chr14:24759400-24765400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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