Variant report

Variant	rs10226191
Chromosome Location	chr7:66337005-66337006
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 110 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10156059	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10224189	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10224536	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10225392	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10229580	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10231411	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs10231860	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10234322	0.86[EUR][1000 genomes]
rs10234640	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10234747	0.81[AFR][1000 genomes]
rs10235037	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10235638	0.80[EUR][1000 genomes]
rs10240153	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10240582	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10241395	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10241528	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs10242870	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs10243608	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10244459	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10245017	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10247324	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10247815	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10256117	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10258628	0.81[AFR][1000 genomes]
rs10265069	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10265154	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10266792	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10267253	0.88[EUR][1000 genomes]
rs10270326	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10271177	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10273402	0.85[ASN][1000 genomes]
rs10280816	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10281090	0.88[EUR][1000 genomes]
rs10282522	1.00[CEU][hapmap];0.81[AFR][1000 genomes]
rs1060527	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1064795	1.00[CEU][hapmap]
rs13437994	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17138274	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17680708	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs17747927	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17748115	0.89[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17748222	0.91[CHB][hapmap];0.93[JPT][hapmap]
rs2013707	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2091315	0.80[CEU][hapmap]
rs28375318	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28379824	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28472679	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28501161	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28533332	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28547918	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28560293	0.81[AFR][1000 genomes]
rs28607736	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28634091	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28641990	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28663128	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28675035	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28817095	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3778907	0.81[AFR][1000 genomes]
rs3778908	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3800814	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3800818	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3823607	0.81[AFR][1000 genomes]
rs3962133	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4718417	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs57774708	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57875851	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59079543	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59693594	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60026498	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60972148	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs61700307	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67408913	0.88[EUR][1000 genomes]
rs6964080	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6965680	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6971508	0.91[CHB][hapmap]
rs6973897	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71526586	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73133859	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73133865	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73135905	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73135907	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73135909	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73135917	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73135922	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73135925	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73135950	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73135960	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73135973	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73137960	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73137963	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73137978	0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs73139941	0.81[AFR][1000 genomes]
rs73139976	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73141980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73143921	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73143998	0.86[EUR][1000 genomes]
rs73145911	0.84[EUR][1000 genomes]
rs73145924	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73151646	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7455757	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7777631	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7785883	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7796977	0.87[EUR][1000 genomes]
rs7809359	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7809535	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs868960	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9654843	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
2	nsv888329	chr7:66234585-66376095	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv981514	chr7:66310139-66366240	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10226191	GS1-124K5.12	cis	Artery Tibial	GTEx
rs10226191	GS1-124K5.12	cis	Skin Sun Exposed Lower leg	GTEx
rs10226191	GS1-124K5.12	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66311000-66339200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr7:66311000-66345800	Weak transcription	HSMMtube	muscle
3	chr7:66311000-66349400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:66311000-66358400	Weak transcription	Brain Anterior Caudate	brain
5	chr7:66311000-66368000	Weak transcription	Colon Smooth Muscle	Colon
6	chr7:66311000-66385200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:66311200-66343000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:66311200-66385200	Weak transcription	Brain Angular Gyrus	brain
9	chr7:66314400-66342800	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr7:66317200-66364400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr7:66319400-66364800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr7:66321200-66367800	Weak transcription	Aorta	Aorta
13	chr7:66321800-66337400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr7:66322400-66342600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr7:66322400-66364200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:66324400-66363800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:66325200-66360200	Weak transcription	Psoas Muscle	Psoas
18	chr7:66325200-66366400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr7:66325400-66351200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:66325400-66366400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:66325400-66369400	Weak transcription	Fetal Brain Female	brain
22	chr7:66325600-66345200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr7:66325600-66359000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr7:66325600-66363600	Weak transcription	Primary B cells from cord blood	blood
25	chr7:66325600-66363600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr7:66325600-66373000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr7:66325800-66343800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:66325800-66344200	Weak transcription	Left Ventricle	heart
29	chr7:66325800-66344200	Weak transcription	Pancreas	Pancrea
30	chr7:66325800-66344400	Weak transcription	NHEK	skin
31	chr7:66325800-66350000	Weak transcription	Dnd41	blood
32	chr7:66325800-66352800	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr7:66325800-66359600	Weak transcription	Spleen	Spleen
34	chr7:66325800-66363400	Weak transcription	Primary B cells from peripheral blood	blood
35	chr7:66325800-66363400	Weak transcription	Brain Substantia Nigra	brain
36	chr7:66325800-66365800	Weak transcription	Esophagus	oesophagus
37	chr7:66325800-66366400	Weak transcription	Right Ventricle	heart
38	chr7:66325800-66367000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr7:66325800-66367600	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr7:66326000-66343800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:66326000-66349600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr7:66326000-66362000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:66326000-66363600	Weak transcription	Gastric	stomach
44	chr7:66326400-66358200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr7:66326400-66362600	Weak transcription	Brain Hippocampus Middle	brain
46	chr7:66326400-66363000	Weak transcription	Lung	lung
47	chr7:66326400-66368200	Weak transcription	Rectal Smooth Muscle	rectum
48	chr7:66326400-66371800	Weak transcription	Brain Cingulate Gyrus	brain
49	chr7:66326600-66363000	Weak transcription	Fetal Stomach	stomach
50	chr7:66326800-66344400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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