Variant report

Variant	rs4981083
Chromosome Location	chr14:31367925-31367926
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31362905..31364737-chr14:31367677..31370319,3	K562	blood:
2	chr14:31358985..31361298-chr14:31365493..31368318,2	K562	blood:

Variant related genes	Relation type
ENSG00000258525	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10129393	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs10150991	0.90[ASN][1000 genomes]
rs10483354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1474800	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17097598	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs179729	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs179732	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1955562	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1955563	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1955566	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2179932	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs2750114	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3736743	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3742920	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4981801	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61116407	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7142286	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7153166	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs7158412	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7158988	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73256099	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257912	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73260377	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74040963	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8008339	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8010398	1.00[CHB][hapmap]
rs8010967	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8020369	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9322868	0.84[CHB][hapmap];0.81[ASN][1000 genomes]
rs9635154	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv832762	chr14:31238634-31414038	Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv564173	chr14:31358377-31400682	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv901584	chr14:31358377-31409010	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv564174	chr14:31365884-31400682	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv564175	chr14:31365884-31409010	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv564176	chr14:31365884-31413492	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv901585	chr14:31365884-31433473	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv901586	chr14:31365884-31465241	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4981083	AP4S1	cis	Artery Tibial	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31345000-31435400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:31345200-31369200	Weak transcription	Pancreas	Pancrea
3	chr14:31345400-31382600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:31346600-31382600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr14:31347000-31384600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr14:31347000-31394800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:31348000-31372600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:31348200-31376800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr14:31350200-31377800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr14:31353400-31369200	Weak transcription	Fetal Intestine Small	intestine
11	chr14:31355200-31378400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:31355800-31414400	Weak transcription	Spleen	Spleen
13	chr14:31356000-31369200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:31356200-31378800	Weak transcription	Brain Germinal Matrix	brain
15	chr14:31356200-31412800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr14:31357800-31370800	Weak transcription	K562	blood
17	chr14:31358000-31428200	Weak transcription	Small Intestine	intestine
18	chr14:31358400-31378400	Weak transcription	Aorta	Aorta
19	chr14:31359200-31371400	Weak transcription	HUVEC	blood vessel
20	chr14:31359600-31375200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr14:31360200-31369200	Weak transcription	Fetal Stomach	stomach
22	chr14:31360200-31435600	Weak transcription	Gastric	stomach
23	chr14:31360400-31381800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:31361200-31379400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr14:31361400-31377200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr14:31361600-31380600	Weak transcription	Stomach Mucosa	stomach
27	chr14:31361600-31384400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr14:31361800-31394200	Weak transcription	Fetal Brain Male	brain
29	chr14:31362000-31381400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr14:31362200-31378800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr14:31362200-31414400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr14:31362400-31435400	Weak transcription	Colonic Mucosa	Colon
33	chr14:31362600-31368600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr14:31362600-31382400	Strong transcription	Liver	Liver
35	chr14:31362800-31369200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr14:31362800-31372200	Strong transcription	HepG2	liver
37	chr14:31363000-31379200	Weak transcription	Fetal Heart	heart
38	chr14:31363000-31394400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr14:31363000-31430600	Weak transcription	Brain Angular Gyrus	brain
40	chr14:31363000-31435200	Weak transcription	Esophagus	oesophagus
41	chr14:31363400-31371800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr14:31363400-31383000	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr14:31363600-31371800	Strong transcription	Duodenum Mucosa	Duodenum
44	chr14:31363600-31375800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr14:31363800-31369000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr14:31363800-31370600	Strong transcription	Fetal Intestine Large	intestine
47	chr14:31363800-31371000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr14:31363800-31381400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr14:31364400-31415400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr14:31364600-31371400	Weak transcription	HMEC	breast

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