Variant report

Variant	rs17747927
Chromosome Location	chr7:66328454-66328455
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:66310072..66311941-chr7:66328440..66331303,2	MCF-7	breast:
2	chr7:66325849..66328663-chr7:66331139..66332662,2	K562	blood:
3	chr7:66324158..66327332-chr7:66327781..66329830,4	K562	blood:
4	chr7:66327806..66329949-chr7:66330490..66333330,2	K562	blood:

Extended variants
information (count: 107 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10156059	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10224189	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10224536	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10225392	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10226191	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10229580	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10231411	1.00[CEU][hapmap];0.81[GIH][hapmap];0.90[TSI][hapmap];0.89[EUR][1000 genomes]
rs10231860	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10234322	0.87[EUR][1000 genomes]
rs10234640	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10235037	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10235638	0.81[EUR][1000 genomes]
rs10240153	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10240582	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10241395	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10241528	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs10242870	0.89[EUR][1000 genomes]
rs10243608	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10244459	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10245017	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10247324	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10247815	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10256117	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10263993	0.80[EUR][1000 genomes]
rs10265069	0.87[EUR][1000 genomes]
rs10265154	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10266792	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10267253	0.89[EUR][1000 genomes]
rs10270326	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10271177	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10273402	0.85[ASN][1000 genomes]
rs10280816	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10281090	0.89[EUR][1000 genomes]
rs10282522	1.00[CEU][hapmap]
rs1060527	1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1064795	1.00[CEU][hapmap];0.82[GIH][hapmap];0.86[TSI][hapmap]
rs13437994	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17138274	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[JPT][hapmap];0.89[MEX][hapmap];0.95[TSI][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17680708	1.00[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs17748115	0.88[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17748222	0.91[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.88[JPT][hapmap];0.89[MEX][hapmap];0.95[TSI][hapmap]
rs1882656	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1882657	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2013707	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28375318	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28379824	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28472679	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28501161	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28533332	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28547918	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28607736	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28634091	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28641990	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28663128	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28675035	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.89[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28817095	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3209292	1.00[MKK][hapmap]
rs3778908	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3800814	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3800818	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3962133	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4718417	0.83[EUR][1000 genomes]
rs57774708	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57875851	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59079543	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59693594	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60026498	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60972148	0.83[EUR][1000 genomes]
rs61700307	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67408913	0.89[EUR][1000 genomes]
rs6964080	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6965680	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6971508	0.91[CHB][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];0.89[MEX][hapmap];0.95[TSI][hapmap]
rs6973897	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71526586	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73133859	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73133865	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73135905	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73135907	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73135909	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73135917	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73135922	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73135925	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73135950	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73135960	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73135973	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73137960	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73137963	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73137978	0.84[ASN][1000 genomes]
rs73139976	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73141980	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73143921	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73143998	0.87[EUR][1000 genomes]
rs73145911	0.83[EUR][1000 genomes]
rs73145924	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73151646	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7455757	0.89[EUR][1000 genomes]
rs7777631	1.00[CEU][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes]
rs7785883	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7796977	0.88[EUR][1000 genomes]
rs7809359	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7809535	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs868960	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9654843	0.81[AMR][1000 genomes];0.87[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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs17747927	GS1-124K5.12	cis	Adipose Subcutaneous	GTEx
rs17747927	GS1-124K5.12	cis	lung	GTEx
rs17747927	GUSB	cis	cerebellum	SCAN
rs17747927	CRCP	cis	parietal	SCAN
rs17747927	GS1-124K5.12	cis	Artery Tibial	GTEx
rs17747927	ZNF273	cis	parietal	SCAN
rs17747927	GS1-124K5.12	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66310400-66337000	Weak transcription	Small Intestine	intestine
2	chr7:66310600-66329200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:66310800-66331600	Weak transcription	Ovary	ovary
4	chr7:66311000-66329000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:66311000-66332600	Weak transcription	Colonic Mucosa	Colon
6	chr7:66311000-66339200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr7:66311000-66345800	Weak transcription	HSMMtube	muscle
8	chr7:66311000-66349400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:66311000-66358400	Weak transcription	Brain Anterior Caudate	brain
10	chr7:66311000-66368000	Weak transcription	Colon Smooth Muscle	Colon
11	chr7:66311000-66385200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:66311200-66343000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:66311200-66385200	Weak transcription	Brain Angular Gyrus	brain
14	chr7:66311600-66334000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:66313600-66332400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:66313800-66330200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:66313800-66331400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr7:66313800-66331800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr7:66313800-66332000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr7:66313800-66332400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:66313800-66336000	Weak transcription	HMEC	breast
22	chr7:66314400-66342800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr7:66317200-66364400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr7:66319200-66330800	Weak transcription	Brain Germinal Matrix	brain
25	chr7:66319400-66364800	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr7:66320400-66329400	Weak transcription	Fetal Thymus	thymus
27	chr7:66321200-66367800	Weak transcription	Aorta	Aorta
28	chr7:66321600-66331400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:66321800-66337400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr7:66322000-66330200	Strong transcription	Liver	Liver
31	chr7:66322400-66342600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr7:66322400-66364200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr7:66322800-66331000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr7:66323400-66333400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr7:66324400-66363800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:66325200-66331600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr7:66325200-66334200	Weak transcription	GM12878-XiMat	blood
38	chr7:66325200-66360200	Weak transcription	Psoas Muscle	Psoas
39	chr7:66325200-66366400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr7:66325400-66351200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:66325400-66366400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:66325400-66369400	Weak transcription	Fetal Brain Female	brain
43	chr7:66325600-66331800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr7:66325600-66332400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:66325600-66334400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr7:66325600-66345200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr7:66325600-66359000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr7:66325600-66363600	Weak transcription	Primary B cells from cord blood	blood
49	chr7:66325600-66363600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr7:66325600-66373000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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