Variant report

Variant	rs12896386
Chromosome Location	chr14:24765063-24765064
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:24765018-24765207	HepG2	liver:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24760425..24763261-chr14:24763604..24766558,4	MCF-7	breast:
2	chr14:24677987..24679713-chr14:24763984..24766313,2	K562	blood:
3	chr14:24682270..24687913-chr14:24764870..24771791,12	MCF-7	breast:
4	chr14:24732047..24734778-chr14:24764163..24766085,2	K562	blood:
5	chr14:24764989..24768278-chr14:24895035..24897150,3	K562	blood:
6	chr14:24763977..24766424-chr14:24767437..24769642,2	K562	blood:
7	chr14:24711747..24713361-chr14:24764963..24767066,22	MCF-7	breast:
8	chr14:24710819..24712965-chr14:24764278..24766988,3	K562	blood:
9	chr14:24651098..24653035-chr14:24763980..24766397,2	K562	blood:

No data

Variant related genes	Relation type
NOP9	TF binding region
DHRS1	TF binding region
ENSG00000213920	Chromatin interaction
ENSG00000196943	Chromatin interaction
ENSG00000092330	Chromatin interaction
ENSG00000254692	Chromatin interaction
ENSG00000092295	Chromatin interaction
ENSG00000196497	Chromatin interaction
ENSG00000254505	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000260669	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1046587	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[EUR][1000 genomes]
rs1051883	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12881984	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12884896	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12885593	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12887789	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12891757	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12892146	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12892419	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12892579	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12895335	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12895752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12896469	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2295306	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2295307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3825586	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4982889	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4982890	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4982891	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4982892	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4982894	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7146665	1.00[CEU][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7400863	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7401804	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs747060	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8003991	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs941507	0.96[CEU][hapmap];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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12896386	DHRS1	cis	Thyroid	GTEx
rs12896386	DHRS1	cis	Frontal Cortex	GTEx

Chromatin state (count:125 , 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	chr14:24748600-24768200	Weak transcription	Psoas Muscle	Psoas
4	chr14:24749000-24768200	Weak transcription	Right Atrium	heart
5	chr14:24753600-24766000	Weak transcription	Fetal Heart	heart
6	chr14:24753600-24768200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:24756200-24765800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr14:24756400-24765800	Strong transcription	Fetal Intestine Small	intestine
9	chr14:24757600-24766000	Weak transcription	Stomach Mucosa	stomach
10	chr14:24757800-24766200	Strong transcription	Fetal Stomach	stomach
11	chr14:24758000-24765400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr14:24758000-24766000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr14:24758400-24765200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr14:24758400-24766000	Strong transcription	Fetal Intestine Large	intestine
15	chr14:24758400-24766400	Strong transcription	Fetal Muscle Trunk	muscle
16	chr14:24758600-24765400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:24758600-24765600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:24758600-24765600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr14:24758600-24765800	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr14:24758600-24765800	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr14:24758600-24766000	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr14:24758600-24766000	Strong transcription	Duodenum Mucosa	Duodenum
23	chr14:24758600-24766000	Strong transcription	Placenta	Placenta
24	chr14:24758800-24765600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr14:24758800-24766000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:24759400-24765400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr14:24759400-24766000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr14:24759600-24765400	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr14:24759800-24765600	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr14:24759800-24765800	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr14:24759800-24765800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr14:24759800-24765800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr14:24759800-24766000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr14:24759800-24766600	Genic enhancers	Liver	Liver
35	chr14:24759800-24768000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr14:24760200-24765800	Strong transcription	Primary B cells from peripheral blood	blood
37	chr14:24760200-24767600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr14:24761400-24765800	Strong transcription	HepG2	liver
39	chr14:24761600-24767800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr14:24761800-24768400	Weak transcription	Small Intestine	intestine
41	chr14:24762000-24766000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr14:24762000-24768000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr14:24762000-24768000	Weak transcription	Right Ventricle	heart
44	chr14:24762200-24765200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr14:24763000-24765800	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr14:24763200-24765200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr14:24763400-24765600	Strong transcription	HSMM	muscle
48	chr14:24763600-24765600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
49	chr14:24763600-24765800	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr14:24763800-24765400	Strong transcription	Primary B cells from cord blood	blood

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