Variant report

Variant	rs12884896
Chromosome Location	chr14:24758151-24758152
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:24740622..24743087-chr14:24757259..24759427,3	K562	blood:
2	chr14:24755234..24758194-chr14:24801992..24804647,2	MCF-7	breast:
3	chr14:24701726..24703938-chr14:24757883..24760008,2	K562	blood:
4	chr14:24738980..24741186-chr14:24757188..24758952,2	K562	blood:
5	chr14:24752462..24755540-chr14:24756043..24759488,4	K562	blood:

Variant related genes	Relation type
ENSG00000100938	Chromatin interaction
ENSG00000100949	Chromatin interaction
ENSG00000129467	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	0.87[EUR][1000 genomes]
rs1051883	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12881984	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12885593	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12887789	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12891757	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12892146	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12892419	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12892579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12895335	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12895752	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12896386	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12896469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2295306	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2295307	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3825586	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4982889	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4982890	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4982891	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4982892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4982894	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7146665	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7400863	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7401804	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs747060	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8003991	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs941507	0.92[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
rs12884896	DHRS1	cis	Thyroid	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24741200-24758800	Weak transcription	Aorta	Aorta
2	chr14:24741200-24768200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:24741400-24758600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr14:24741400-24758800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr14:24741600-24758400	Weak transcription	Fetal Intestine Large	intestine
6	chr14:24741600-24758600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr14:24741600-24758600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr14:24741600-24759200	Weak transcription	Small Intestine	intestine
9	chr14:24741600-24767800	Weak transcription	Fetal Brain Male	brain
10	chr14:24741800-24758800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:24742000-24758600	Weak transcription	Thymus	Thymus
12	chr14:24743400-24758600	Weak transcription	Gastric	stomach
13	chr14:24743800-24758600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr14:24743800-24759000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr14:24745200-24758800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:24746400-24758600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr14:24746800-24758600	Weak transcription	Colonic Mucosa	Colon
18	chr14:24748000-24764800	Weak transcription	K562	blood
19	chr14:24748600-24758600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr14:24748600-24768200	Weak transcription	Psoas Muscle	Psoas
21	chr14:24748800-24758600	Weak transcription	Brain Anterior Caudate	brain
22	chr14:24748800-24764800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr14:24749000-24758600	Weak transcription	HSMM	muscle
24	chr14:24749000-24758800	Weak transcription	Pancreas	Pancrea
25	chr14:24749000-24768200	Weak transcription	Right Atrium	heart
26	chr14:24749200-24758600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr14:24749200-24758600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr14:24749200-24758600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr14:24749200-24758600	Weak transcription	Fetal Thymus	thymus
30	chr14:24749200-24759400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr14:24749400-24758600	Weak transcription	Liver	Liver
32	chr14:24749400-24758600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr14:24749400-24758800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr14:24749400-24758800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr14:24749400-24759000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr14:24749400-24759400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr14:24749400-24763800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr14:24749600-24758600	Weak transcription	Primary T cells from cord blood	blood
39	chr14:24749600-24758600	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr14:24749600-24758600	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr14:24749600-24758600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr14:24749600-24758600	Weak transcription	Brain Hippocampus Middle	brain
43	chr14:24749600-24758600	Weak transcription	Brain Substantia Nigra	brain
44	chr14:24749800-24758600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr14:24750000-24758800	Weak transcription	Brain Angular Gyrus	brain
46	chr14:24750200-24758600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr14:24750200-24758600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr14:24750400-24759000	Weak transcription	Brain Germinal Matrix	brain
49	chr14:24750600-24758400	Weak transcription	Osteobl	bone
50	chr14:24750600-24758600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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