Variant report

Variant	rs17365011
Chromosome Location	chr7:69528580-69528581
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	chr7:69521541..69523316-chr7:69526522..69528955,2	K562	blood:

Extended variants
information (count: 103 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1008379	0.84[ASN][1000 genomes]
rs10499813	0.92[ASN][1000 genomes]
rs12113555	0.92[ASN][1000 genomes]
rs12667561	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12669794	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12698812	0.81[ASN][1000 genomes]
rs12698814	0.81[ASN][1000 genomes]
rs12698815	0.85[ASN][1000 genomes]
rs12698820	0.89[ASN][1000 genomes]
rs12698835	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12698838	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12698841	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12698843	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12698846	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12698847	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12698850	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12698851	0.94[EUR][1000 genomes]
rs12698853	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12698856	0.92[ASN][1000 genomes]
rs12698857	0.92[CHB][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs12698859	0.89[ASN][1000 genomes]
rs12698862	0.90[ASN][1000 genomes]
rs12698869	0.92[ASN][1000 genomes]
rs12698875	0.90[ASN][1000 genomes]
rs12698879	0.86[ASN][1000 genomes]
rs12698880	0.86[ASN][1000 genomes]
rs12698884	0.83[ASN][1000 genomes]
rs12698886	0.81[ASN][1000 genomes]
rs13228464	0.84[ASN][1000 genomes]
rs13229395	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13231497	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13236841	0.85[ASN][1000 genomes]
rs13242485	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13247796	1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[ASN][1000 genomes]
rs1404275	0.86[ASN][1000 genomes]
rs1476104	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1476105	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17353815	0.83[ASN][1000 genomes]
rs17365333	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17365375	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17458097	0.84[ASN][1000 genomes]
rs17462837	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17604001	0.84[ASN][1000 genomes]
rs1880369	0.92[ASN][1000 genomes]
rs2159679	0.84[ASN][1000 genomes]
rs2903097	0.83[ASN][1000 genomes]
rs34249708	0.83[ASN][1000 genomes]
rs34519726	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35062112	0.86[ASN][1000 genomes]
rs35317642	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35322474	0.82[ASN][1000 genomes]
rs4475377	0.86[ASN][1000 genomes]
rs58849135	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6943610	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6943630	0.90[ASN][1000 genomes]
rs6946066	0.92[ASN][1000 genomes]
rs6948676	0.88[ASN][1000 genomes]
rs6951909	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6963101	0.83[ASN][1000 genomes]
rs6964139	0.90[ASN][1000 genomes]
rs6970670	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6978919	0.81[ASN][1000 genomes]
rs735060	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs763759	0.84[ASN][1000 genomes]
rs7779308	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7780640	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7782771	0.92[ASN][1000 genomes]
rs7783039	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7783592	0.92[ASN][1000 genomes]
rs7790084	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7791954	0.92[ASN][1000 genomes]
rs7796592	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7800317	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7800759	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7803814	0.92[ASN][1000 genomes]
rs7807263	0.92[ASN][1000 genomes]
rs7808588	0.86[ASN][1000 genomes]
rs7808773	0.84[ASN][1000 genomes]
rs870919	0.88[ASN][1000 genomes]
rs917717	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9638575	0.85[ASN][1000 genomes]
rs9638582	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021538	chr7:69130236-69575753	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv538917	chr7:69130236-69575753	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv817276	chr7:69130237-69736834	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1018289	chr7:69383450-69650885	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv538922	chr7:69383450-69650885	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1034281	chr7:69403828-69548378	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv538923	chr7:69403828-69548378	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1034182	chr7:69406172-69529294	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv538924	chr7:69406172-69529294	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	esv2758119	chr7:69412504-69594161	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	esv2759536	chr7:69412504-69594161	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv607429	chr7:69430748-69553093	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv1020488	chr7:69465268-69671126	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv1022932	chr7:69496659-69564369	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv538925	chr7:69496659-69564369	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv1034817	chr7:69507871-69578892	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv538926	chr7:69507871-69578892	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv1028975	chr7:69513266-69578892	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv916345	chr7:69520612-69784809	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17365011	AUTS2	cis	cerebellum	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69517800-69533600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:69519600-69528600	Weak transcription	Fetal Stomach	stomach
3	chr7:69519800-69528600	Weak transcription	Fetal Lung	lung
4	chr7:69522000-69528600	Weak transcription	Fetal Intestine Small	intestine
5	chr7:69522400-69528600	Weak transcription	Fetal Heart	heart
6	chr7:69526000-69528600	Weak transcription	Fetal Intestine Large	intestine
7	chr7:69526000-69528600	Weak transcription	Left Ventricle	heart
8	chr7:69526000-69529200	Weak transcription	Fetal Thymus	thymus
9	chr7:69526000-69537400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:69526400-69536400	Weak transcription	Right Atrium	heart
11	chr7:69527200-69529800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr7:69527400-69529600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:69527400-69529600	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr7:69527600-69528800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr7:69527600-69529400	Enhancers	Adipose Nuclei	Adipose
16	chr7:69527600-69529800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:69527800-69528600	Enhancers	Colon Smooth Muscle	Colon
18	chr7:69527800-69529200	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr7:69527800-69529200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:69527800-69529200	Enhancers	Fetal Brain Female	brain
21	chr7:69527800-69529400	Enhancers	Brain Anterior Caudate	brain
22	chr7:69527800-69529400	Enhancers	Brain Cingulate Gyrus	brain
23	chr7:69527800-69529400	Enhancers	Brain Hippocampus Middle	brain
24	chr7:69528000-69528800	Enhancers	Primary hematopoietic stem cells	blood
25	chr7:69528000-69529200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:69528000-69529400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:69528000-69529600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:69528000-69529600	Enhancers	Fetal Muscle Leg	muscle
29	chr7:69528200-69528600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr7:69528200-69529200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:69528200-69529200	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr7:69528200-69529400	Weak transcription	Right Ventricle	heart
33	chr7:69528400-69528800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr7:69528400-69528800	Weak transcription	Psoas Muscle	Psoas
35	chr7:69528400-69529000	Enhancers	Brain Germinal Matrix	brain
36	chr7:69528400-69529200	Enhancers	Brain Angular Gyrus	brain
37	chr7:69528400-69529200	Enhancers	Fetal Kidney	kidney
38	chr7:69528400-69529400	Enhancers	Brain Substantia Nigra	brain
39	chr7:69528400-69529600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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