Variant report

Variant	rs8068565
Chromosome Location	chr17:19741759-19741760
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11871642	1.00[TSI][hapmap]
rs123082	0.92[AFR][1000 genomes]
rs157387	0.82[LWK][hapmap];0.81[YRI][hapmap]
rs157391	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs157392	0.91[AFR][1000 genomes]
rs157393	0.84[YRI][hapmap]
rs157397	0.90[ASW][hapmap];0.97[LWK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs157403	0.89[AFR][1000 genomes]
rs157406	0.84[YRI][hapmap]
rs1585751	1.00[EUR][1000 genomes]
rs169513	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs16960503	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs205090	0.82[LWK][hapmap];0.81[YRI][hapmap]
rs205106	0.97[AFR][1000 genomes]
rs281328	0.91[AFR][1000 genomes]
rs281331	0.89[AFR][1000 genomes]
rs281347	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs281349	0.94[AFR][1000 genomes]
rs281353	0.90[ASW][hapmap];0.97[LWK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs281356	0.97[AFR][1000 genomes]
rs28491526	1.00[AMR][1000 genomes]
rs28632080	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28661916	1.00[EUR][1000 genomes]
rs3098902	0.93[AFR][1000 genomes]
rs3098908	0.94[AFR][1000 genomes]
rs3098909	0.92[AFR][1000 genomes]
rs3101814	0.84[YRI][hapmap];0.80[AFR][1000 genomes]
rs3744692	1.00[EUR][1000 genomes]
rs3744694	1.00[EUR][1000 genomes]
rs3760488	1.00[EUR][1000 genomes]
rs3786037	1.00[EUR][1000 genomes]
rs395130	0.90[ASW][hapmap];0.97[LWK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs445958	0.92[AFR][1000 genomes]
rs4646783	1.00[EUR][1000 genomes]
rs56407718	1.00[EUR][1000 genomes]
rs56705977	1.00[EUR][1000 genomes]
rs7216958	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8066134	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9890667	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9891047	1.00[AMR][1000 genomes]
rs9893138	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9894723	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9898591	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs9899365	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9900160	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9905570	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1057469	chr17:19696714-19787062	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8068565	AKAP10	cis	lymphoblastoid	seeQTL

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19673800-19769800	Weak transcription	NH-A	brain
2	chr17:19700400-19745200	Weak transcription	Stomach Mucosa	stomach
3	chr17:19700400-19768400	Weak transcription	Fetal Heart	heart
4	chr17:19700800-19769800	Weak transcription	HSMMtube	muscle
5	chr17:19701000-19743200	Weak transcription	Gastric	stomach
6	chr17:19701000-19743400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr17:19701000-19748600	Weak transcription	Spleen	Spleen
8	chr17:19701000-19753400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr17:19701000-19766200	Weak transcription	Primary B cells from cord blood	blood
10	chr17:19701000-19770000	Weak transcription	Colonic Mucosa	Colon
11	chr17:19701200-19758400	Weak transcription	Small Intestine	intestine
12	chr17:19701800-19742800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr17:19703800-19769800	Weak transcription	Psoas Muscle	Psoas
14	chr17:19704400-19754800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr17:19704400-19770000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr17:19706800-19769800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr17:19712400-19769800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr17:19712600-19742400	Weak transcription	Fetal Kidney	kidney
19	chr17:19712600-19748400	Weak transcription	Fetal Brain Male	brain
20	chr17:19724200-19749400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr17:19725400-19768600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr17:19727400-19743200	Weak transcription	Osteobl	bone
23	chr17:19727400-19747600	Weak transcription	NHLF	lung
24	chr17:19727400-19749000	Weak transcription	Aorta	Aorta
25	chr17:19727400-19768800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr17:19727600-19749000	Weak transcription	Fetal Thymus	thymus
27	chr17:19727600-19749600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr17:19727800-19769800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr17:19728000-19753800	Weak transcription	Thymus	Thymus
30	chr17:19728000-19770000	Weak transcription	Esophagus	oesophagus
31	chr17:19728200-19769800	Weak transcription	HSMM	muscle
32	chr17:19728200-19770000	Weak transcription	Pancreas	Pancrea
33	chr17:19728400-19745000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr17:19728400-19768800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr17:19728600-19742200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr17:19728600-19744000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr17:19728600-19745000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr17:19728600-19748200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr17:19728600-19748400	Weak transcription	Brain Substantia Nigra	brain
40	chr17:19728600-19748600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr17:19728600-19749200	Weak transcription	Right Ventricle	heart
42	chr17:19728600-19756000	Weak transcription	HUVEC	blood vessel
43	chr17:19728600-19769800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr17:19728800-19742400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr17:19728800-19746000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr17:19728800-19769400	Weak transcription	NHEK	skin
47	chr17:19729000-19745800	Weak transcription	Left Ventricle	heart
48	chr17:19729000-19748400	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr17:19729000-19750000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr17:19730000-19747400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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