Variant report

Variant	rs917725
Chromosome Location	chr7:69223990-69223991
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 162 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:153)

rs_ID	r²[population]
rs1000874	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10085600	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10215914	0.85[EUR][1000 genomes]
rs10216097	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10216186	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10229336	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10229578	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10229588	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10230356	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10230750	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10233869	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10234831	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10235098	0.81[EUR][1000 genomes]
rs10236103	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10238307	0.93[EUR][1000 genomes]
rs10239569	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10240462	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10242206	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10243408	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10244001	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10244128	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10244247	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10244885	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10245493	0.80[AMR][1000 genomes]
rs10245690	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10245749	0.81[EUR][1000 genomes]
rs10247386	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10248237	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10254086	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10255563	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10255613	0.80[AMR][1000 genomes]
rs10256512	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10256943	0.93[EUR][1000 genomes]
rs10257587	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10258846	0.81[EUR][1000 genomes]
rs10261380	0.93[EUR][1000 genomes]
rs10263467	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10268221	0.80[AMR][1000 genomes]
rs10268457	0.80[AMR][1000 genomes]
rs10268729	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10269267	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10272781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10274099	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10274419	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10275112	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10275721	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10278001	0.81[EUR][1000 genomes]
rs10278978	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10279669	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10279708	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10280018	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10281575	0.80[AMR][1000 genomes]
rs10281579	0.80[AMR][1000 genomes]
rs10452705	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10452739	0.81[EUR][1000 genomes]
rs10487943	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10950193	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11762049	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11762487	0.81[EUR][1000 genomes]
rs11763426	0.85[EUR][1000 genomes]
rs11764277	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11764717	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11769033	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11769738	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11770241	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11771751	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11771899	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11772602	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11773581	0.80[AMR][1000 genomes]
rs11975481	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11975506	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11979745	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12333653	0.81[EUR][1000 genomes]
rs17140693	0.80[AMR][1000 genomes]
rs17140755	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17140759	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17140783	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17140817	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17140884	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17140938	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17141032	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17353920	0.80[EUR][1000 genomes]
rs17457910	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs17458713	0.80[EUR][1000 genomes]
rs2052124	0.80[EUR][1000 genomes]
rs2068718	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28393394	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28493290	0.93[EUR][1000 genomes]
rs28496072	0.81[EUR][1000 genomes]
rs28502437	0.81[EUR][1000 genomes]
rs28577243	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2865804	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28812289	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28864527	0.81[EUR][1000 genomes]
rs34080361	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3735260	1.00[JPT][hapmap]
rs3800979	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41379648	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4305786	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55654955	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55756263	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55880824	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56405888	0.85[EUR][1000 genomes]
rs56800568	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57493471	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58626042	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58666988	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58863846	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61370051	0.85[ASN][1000 genomes]
rs61424317	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61692535	0.80[AMR][1000 genomes]
rs6460525	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6945524	0.80[EUR][1000 genomes]
rs6947326	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6950638	0.93[EUR][1000 genomes]
rs6951770	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6958450	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6958714	0.81[EUR][1000 genomes]
rs6962237	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6962338	0.80[EUR][1000 genomes]
rs6967788	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6968426	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6975211	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6977472	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6978818	0.81[EUR][1000 genomes]
rs6980305	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs717266	0.93[EUR][1000 genomes]
rs719294	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73154605	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73164795	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73166559	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73167506	0.93[EUR][1000 genomes]
rs73168739	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73168740	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73168747	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73168758	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73170834	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73170852	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73170857	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73170864	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73172903	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs740946	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7777243	0.90[ASN][1000 genomes]
rs7777269	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7777621	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7780835	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7781664	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7784950	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7801209	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7810982	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs917718	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9690738	0.81[EUR][1000 genomes]
rs9690769	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
7	esv3394718	chr7:69194534-69238432	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1027399	chr7:69197011-69239721	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv538918	chr7:69197011-69239721	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69217000-69224600	Enhancers	Fetal Thymus	thymus
2	chr7:69217200-69224200	Enhancers	Thymus	Thymus
3	chr7:69217400-69237400	Weak transcription	Fetal Muscle Leg	muscle
4	chr7:69218800-69224400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:69219200-69233600	Weak transcription	Left Ventricle	heart
6	chr7:69219600-69224400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:69219600-69229400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr7:69220000-69227400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:69220800-69224000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:69220800-69224200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:69221000-69224200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr7:69221400-69228400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:69221800-69229600	Weak transcription	Fetal Brain Male	brain
14	chr7:69222800-69224000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:69222800-69224000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr7:69222800-69224400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:69222800-69224400	Enhancers	GM12878-XiMat	blood
18	chr7:69223000-69224000	Enhancers	Adipose Nuclei	Adipose
19	chr7:69223000-69226200	Weak transcription	Brain Angular Gyrus	brain
20	chr7:69223200-69224200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr7:69223200-69226800	Weak transcription	Brain Substantia Nigra	brain
22	chr7:69223200-69229800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:69223200-69234000	Weak transcription	Brain Hippocampus Middle	brain
24	chr7:69223400-69226200	Weak transcription	Brain Germinal Matrix	brain
25	chr7:69223400-69226400	Weak transcription	Colon Smooth Muscle	Colon
26	chr7:69223400-69228400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:69223400-69228800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:69223400-69229000	Weak transcription	Ovary	ovary
29	chr7:69223400-69234000	Weak transcription	Brain Anterior Caudate	brain
30	chr7:69223600-69224000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr7:69223600-69224000	Weak transcription	Fetal Brain Female	brain
32	chr7:69223600-69224400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:69223600-69226000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr7:69223600-69226000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr7:69223600-69228800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr7:69223800-69226000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:69223800-69226000	Weak transcription	Fetal Stomach	stomach
38	chr7:69223800-69226200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr7:69223800-69226400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr7:69223800-69233800	Weak transcription	Fetal Lung	lung

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