Variant report

Variant	rs10156059
Chromosome Location	chr7:66364480-66364481
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10224189	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10224536	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.82[EUR][1000 genomes]
rs10225392	0.85[EUR][1000 genomes]
rs10226191	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10228964	0.81[ASN][1000 genomes]
rs10231411	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes]
rs10234322	0.88[EUR][1000 genomes]
rs10234640	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10235334	0.88[YRI][hapmap]
rs10235638	0.82[EUR][1000 genomes]
rs10240153	0.85[EUR][1000 genomes]
rs10240582	0.85[EUR][1000 genomes]
rs10241395	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10241528	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs10242870	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10244459	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.81[AMR][1000 genomes]
rs10245017	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10247324	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10247591	0.85[AFR][1000 genomes]
rs10247815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10256117	0.82[EUR][1000 genomes]
rs10263993	0.81[EUR][1000 genomes]
rs10264433	0.81[ASN][1000 genomes]
rs10264555	0.81[ASN][1000 genomes]
rs10264873	0.87[YRI][hapmap]
rs10265069	0.97[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs10265154	0.84[EUR][1000 genomes]
rs10266792	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10267253	0.86[EUR][1000 genomes]
rs10270326	0.82[EUR][1000 genomes]
rs10271177	0.85[EUR][1000 genomes]
rs10280816	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10281090	0.90[EUR][1000 genomes]
rs10282522	1.00[CEU][hapmap];0.82[YRI][hapmap]
rs1060527	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1064795	1.00[CEU][hapmap];0.87[YRI][hapmap]
rs12532805	0.87[YRI][hapmap]
rs13437994	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17138017	1.00[YRI][hapmap]
rs17680606	1.00[YRI][hapmap]
rs17680708	1.00[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs17747927	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17748115	0.89[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17748222	0.91[CHB][hapmap];0.88[JPT][hapmap]
rs2013707	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2091315	0.80[CEU][hapmap];0.87[YRI][hapmap]
rs28375318	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs28379824	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28472679	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28501161	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28533332	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28547918	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28607736	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs28634091	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28641990	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28663128	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28675035	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28817095	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3778908	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3778916	0.88[YRI][hapmap]
rs3800814	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3800818	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3962133	0.83[AFR][1000 genomes]
rs4382352	0.88[YRI][hapmap]
rs4617036	0.87[YRI][hapmap]
rs57774708	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57875851	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59079543	0.84[EUR][1000 genomes]
rs59693594	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60026498	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62465746	0.85[AFR][1000 genomes]
rs67408913	0.86[EUR][1000 genomes]
rs6964080	0.84[EUR][1000 genomes]
rs6965680	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6971508	0.91[CHB][hapmap]
rs6973897	0.85[EUR][1000 genomes]
rs71526586	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73135905	0.84[EUR][1000 genomes]
rs73135907	0.84[EUR][1000 genomes]
rs73135909	0.84[EUR][1000 genomes]
rs73135917	0.84[EUR][1000 genomes]
rs73135922	0.84[EUR][1000 genomes]
rs73135925	0.84[EUR][1000 genomes]
rs73135950	0.84[EUR][1000 genomes]
rs73135960	0.85[EUR][1000 genomes]
rs73135973	0.83[EUR][1000 genomes]
rs73137960	0.82[EUR][1000 genomes]
rs73137963	0.81[EUR][1000 genomes]
rs73137978	0.82[AFR][1000 genomes]
rs73139976	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73141980	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73143921	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73143998	0.88[EUR][1000 genomes]
rs73145911	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73145924	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73151646	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73151665	0.82[ASN][1000 genomes]
rs7455757	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7777631	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes]
rs7785883	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7796977	0.85[EUR][1000 genomes]
rs7809359	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7809535	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs868960	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9654843	0.84[EUR][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
rs10156059	GS1-124K5.12	cis	Artery Tibial	GTEx
rs10156059	GS1-124K5.12	cis	Adipose Subcutaneous	GTEx
rs10156059	GS1-124K5.12	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66311000-66368000	Weak transcription	Colon Smooth Muscle	Colon
2	chr7:66311000-66385200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:66311200-66385200	Weak transcription	Brain Angular Gyrus	brain
4	chr7:66319400-66364800	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr7:66321200-66367800	Weak transcription	Aorta	Aorta
6	chr7:66325200-66366400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:66325400-66366400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:66325400-66369400	Weak transcription	Fetal Brain Female	brain
9	chr7:66325600-66373000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr7:66325800-66365800	Weak transcription	Esophagus	oesophagus
11	chr7:66325800-66366400	Weak transcription	Right Ventricle	heart
12	chr7:66325800-66367000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:66325800-66367600	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr7:66326400-66368200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr7:66326400-66371800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr7:66328200-66367000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr7:66329800-66372000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr7:66330400-66366000	Weak transcription	Fetal Thymus	thymus
19	chr7:66331800-66378400	Weak transcription	A549	lung
20	chr7:66333000-66371600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:66333800-66371800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr7:66334200-66367600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr7:66335400-66371400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr7:66336200-66364600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:66336200-66366400	Weak transcription	Thymus	Thymus
26	chr7:66336200-66369400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr7:66342800-66370600	Weak transcription	NHLF	lung
28	chr7:66343000-66367600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr7:66344600-66368200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr7:66345600-66368400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr7:66346000-66367000	Weak transcription	Fetal Intestine Large	intestine
32	chr7:66347000-66370000	Weak transcription	Colonic Mucosa	Colon
33	chr7:66348000-66368200	Weak transcription	Brain Germinal Matrix	brain
34	chr7:66349800-66368800	Weak transcription	NHEK	skin
35	chr7:66350600-66368400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr7:66350600-66385200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:66352800-66366000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr7:66353200-66379600	Weak transcription	GM12878-XiMat	blood
39	chr7:66355200-66369000	Weak transcription	Left Ventricle	heart
40	chr7:66355600-66375400	Weak transcription	Fetal Brain Male	brain
41	chr7:66356400-66371200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr7:66357800-66367600	Strong transcription	Liver	Liver
43	chr7:66358800-66371200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr7:66359200-66372800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr7:66359800-66366400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:66360000-66366400	Weak transcription	Spleen	Spleen
47	chr7:66360200-66366400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr7:66361200-66370000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:66361200-66372600	Weak transcription	Osteobl	bone
50	chr7:66361400-66364800	Strong transcription	HUES64 Cell Line	embryonic stem cell

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