Variant report

Variant	rs403021
Chromosome Location	chr17:19806829-19806830
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:19806568..19809445-chr17:20006913..20008589,2	K562	blood:
2	chr17:19803045..19804628-chr17:19806537..19808845,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12450857	0.86[CEU][hapmap]
rs12453720	0.86[CEU][hapmap];0.84[TSI][hapmap]
rs12943369	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1638526	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs1638527	0.95[CEU][hapmap];0.90[GIH][hapmap];0.97[TSI][hapmap];0.90[EUR][1000 genomes]
rs1638528	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs169413	0.90[EUR][1000 genomes]
rs17604987	0.95[CEU][hapmap];0.91[GIH][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.89[EUR][1000 genomes]
rs203449	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs203454	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs203464	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs203467	0.95[CEU][hapmap];0.91[GIH][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs203474	0.90[EUR][1000 genomes]
rs203475	0.95[CEU][hapmap];0.91[GIH][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.90[EUR][1000 genomes]
rs203476	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs203478	0.95[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs203480	0.95[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2108981	0.86[CEU][hapmap];0.87[GIH][hapmap];0.86[TSI][hapmap]
rs427033	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4925054	0.86[CEU][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4925055	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62066267	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6813	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7209653	0.94[ASW][hapmap];0.91[CEU][hapmap];0.97[GIH][hapmap];0.98[LWK][hapmap];0.97[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs8079923	0.95[CEU][hapmap];0.91[GIH][hapmap];0.90[MEX][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes]
rs850622	0.95[CEU][hapmap];0.91[GIH][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9891503	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9901294	0.94[ASW][hapmap];0.91[CEU][hapmap];0.97[GIH][hapmap];0.95[LWK][hapmap];0.97[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv1063892	chr17:19564634-19808485	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv482398	chr17:19673458-19808039	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv907869	chr17:19795774-19926836	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs403021	AKAP10	cis	lymphoblastoid	seeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19796400-19809800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:19799200-19808400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr17:19799800-19807000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr17:19800600-19807600	Weak transcription	Brain Angular Gyrus	brain
5	chr17:19801000-19808200	Weak transcription	Left Ventricle	heart
6	chr17:19801000-19808400	Weak transcription	Esophagus	oesophagus
7	chr17:19801400-19808200	Weak transcription	Right Ventricle	heart
8	chr17:19801400-19808400	Weak transcription	Fetal Kidney	kidney
9	chr17:19801400-19808400	Weak transcription	Gastric	stomach
10	chr17:19801400-19808400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr17:19801400-19808600	Weak transcription	Colonic Mucosa	Colon
12	chr17:19801400-19808600	Weak transcription	Small Intestine	intestine
13	chr17:19801400-19809000	Weak transcription	Psoas Muscle	Psoas
14	chr17:19801400-19814200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr17:19801600-19808400	Weak transcription	Brain Anterior Caudate	brain
16	chr17:19801600-19808400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr17:19801600-19808800	Weak transcription	Fetal Heart	heart
18	chr17:19801600-19808800	Weak transcription	K562	blood
19	chr17:19801600-19814600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr17:19802000-19808400	Weak transcription	NHEK	skin
21	chr17:19802200-19807400	Weak transcription	HUVEC	blood vessel
22	chr17:19802200-19809000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr17:19802200-19814200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr17:19802800-19807600	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr17:19802800-19824000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr17:19802800-19829000	Strong transcription	Fetal Muscle Leg	muscle
27	chr17:19802800-19844400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr17:19802800-19846400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr17:19802800-19852400	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr17:19803000-19807000	Strong transcription	Fetal Stomach	stomach
31	chr17:19803000-19807400	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr17:19803000-19807400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr17:19803000-19810400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr17:19803000-19810400	Strong transcription	Stomach Smooth Muscle	stomach
35	chr17:19803000-19813200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr17:19803000-19822000	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr17:19803000-19824400	Strong transcription	Fetal Muscle Trunk	muscle
38	chr17:19803000-19851800	Strong transcription	Fetal Thymus	thymus
39	chr17:19803200-19840800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr17:19803400-19807000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr17:19803600-19809000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr17:19803600-19813400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr17:19803600-19814000	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr17:19803600-19826200	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr17:19803600-19829800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr17:19803600-19845400	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr17:19803600-19848000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr17:19803800-19807000	Strong transcription	Spleen	Spleen
49	chr17:19803800-19812000	Strong transcription	Fetal Intestine Small	intestine
50	chr17:19803800-19818000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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