Variant report

Variant	rs10272781
Chromosome Location	chr7:69286887-69286888
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr7:69286758-69291642	SK-N-SH	brain:	n/a	chr7:69291036-69291050 chr7:69290891-69290900 chr7:69287730-69287740 chr7:69288757-69288771 chr7:69290887-69290901

Variant related genes	Relation type
AUTS2	TF binding region

Extended variants
information (count: 170 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:164)

rs_ID	r²[population]
rs1000874	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10085600	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10156142	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1017113	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10215914	0.88[EUR][1000 genomes]
rs10216097	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10216186	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10229336	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10229578	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10229588	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10230356	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10230750	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10233869	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10234121	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10234831	0.86[EUR][1000 genomes]
rs10235098	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10236103	0.93[EUR][1000 genomes]
rs10238307	0.97[EUR][1000 genomes]
rs10239569	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10240462	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10242206	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10243408	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10244001	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10244128	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10244247	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10244885	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10245690	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10245749	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10247386	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10248237	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10248401	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10254086	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10255563	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10256512	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10256943	0.97[EUR][1000 genomes]
rs10257587	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10258846	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10259028	0.84[EUR][1000 genomes]
rs10261380	0.97[EUR][1000 genomes]
rs10263467	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10266802	0.84[EUR][1000 genomes]
rs10268729	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10269267	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10274099	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10274419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10275112	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10275721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276322	0.84[EUR][1000 genomes]
rs10278001	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10278978	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10279669	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10279708	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10452705	0.93[EUR][1000 genomes]
rs10452739	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10487943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10950193	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11762049	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11762487	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11763426	0.88[EUR][1000 genomes]
rs11764277	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11764717	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11764911	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11766980	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11768151	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11769033	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11769390	0.84[EUR][1000 genomes]
rs11769738	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11770241	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11770695	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11771751	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11771768	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11771899	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11772602	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11975481	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11975506	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11979745	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12333653	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13437638	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17140755	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17140759	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17140783	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17140817	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17140884	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17140938	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17141032	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17141168	0.84[EUR][1000 genomes]
rs17141181	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17350805	0.83[EUR][1000 genomes]
rs17353920	0.90[EUR][1000 genomes]
rs17457910	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs17458713	0.90[EUR][1000 genomes]
rs2052124	0.90[EUR][1000 genomes]
rs2068718	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28393394	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28493290	0.97[EUR][1000 genomes]
rs28496072	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28502437	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28577243	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28630917	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2865804	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28812289	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28864527	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34080361	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3800979	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41379648	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4305786	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55654955	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55756263	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55880824	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56405888	0.88[EUR][1000 genomes]
rs56800568	0.87[EUR][1000 genomes]
rs56999082	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs57493471	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58626042	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58666988	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58863846	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61370051	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61424317	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6460525	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6945524	0.90[EUR][1000 genomes]
rs6947326	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6948174	0.84[EUR][1000 genomes]
rs6950638	0.97[EUR][1000 genomes]
rs6951770	0.93[EUR][1000 genomes]
rs6958450	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6958714	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6961682	0.84[EUR][1000 genomes]
rs6962237	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6962338	0.90[EUR][1000 genomes]
rs6967788	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6968426	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6975211	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6977472	0.93[EUR][1000 genomes]
rs6978818	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6980305	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs717266	0.97[EUR][1000 genomes]
rs719294	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73154605	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73164795	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73166559	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73167506	0.97[EUR][1000 genomes]
rs73168739	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73168740	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73168747	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73168758	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73170834	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73170852	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73170857	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73170864	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73172903	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs740946	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7777243	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7777269	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7777621	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7780835	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7781664	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7784950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7801209	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7806413	0.85[AMR][1000 genomes]
rs7810982	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs917718	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs917725	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9690738	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9690769	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916011	chr7:68942155-69330800	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv831021	chr7:69122169-69364491	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69279000-69287000	Weak transcription	GM12878-XiMat	blood
2	chr7:69279800-69289000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr7:69279800-69289600	Weak transcription	Psoas Muscle	Psoas
4	chr7:69280200-69287200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr7:69282800-69287200	Weak transcription	Right Atrium	heart
6	chr7:69282800-69288000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:69282800-69288200	Weak transcription	Thymus	Thymus
8	chr7:69282800-69289400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr7:69282800-69289600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:69283000-69287400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:69283200-69288200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr7:69283200-69289000	Weak transcription	Fetal Thymus	thymus
13	chr7:69283200-69289600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:69283200-69289600	Weak transcription	HSMM	muscle
15	chr7:69283400-69289400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:69283400-69291800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:69283400-69292600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr7:69283600-69287200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr7:69284200-69288000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr7:69284400-69287200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr7:69284400-69289600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr7:69284400-69289600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr7:69284400-69290400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:69284600-69287000	Weak transcription	Brain Hippocampus Middle	brain
25	chr7:69284600-69287200	Weak transcription	Brain Anterior Caudate	brain
26	chr7:69284600-69287200	Weak transcription	Fetal Stomach	stomach
27	chr7:69284600-69287400	Weak transcription	Adipose Nuclei	Adipose
28	chr7:69284600-69287400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr7:69284600-69287400	Weak transcription	Brain Substantia Nigra	brain
30	chr7:69284600-69288000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr7:69284600-69288000	Weak transcription	Brain Angular Gyrus	brain
32	chr7:69284600-69289600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr7:69284600-69289600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:69284600-69289800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr7:69284600-69289800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr7:69284600-69290400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:69284600-69297400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr7:69284800-69288200	Weak transcription	Lung	lung
39	chr7:69284800-69289400	Weak transcription	HSMMtube	muscle
40	chr7:69284800-69289600	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr7:69284800-69289600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr7:69284800-69291400	Weak transcription	Left Ventricle	heart
43	chr7:69285000-69287200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr7:69285000-69287400	Weak transcription	Fetal Heart	heart
45	chr7:69285000-69295800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr7:69285200-69287000	Weak transcription	Fetal Brain Male	brain
47	chr7:69285200-69287400	Weak transcription	Fetal Brain Female	brain
48	chr7:69285400-69287200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:69285800-69287600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:69285800-69288000	Weak transcription	Brain Germinal Matrix	brain

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