Variant report

Variant	rs59693594
Chromosome Location	chr7:66400144-66400145
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:66392066..66395575-chr7:66397284..66400489,4	K562	blood:
2	chr7:66391341..66394303-chr7:66398418..66401145,2	MCF-7	breast:

Extended variants
information (count: 81 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10156059	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10224189	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10224536	0.84[EUR][1000 genomes]
rs10226191	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10228964	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10231411	0.84[EUR][1000 genomes]
rs10231860	0.80[EUR][1000 genomes]
rs10234322	0.86[EUR][1000 genomes]
rs10234640	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10235037	0.80[EUR][1000 genomes]
rs10235638	0.84[EUR][1000 genomes]
rs10241395	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10241528	0.86[EUR][1000 genomes]
rs10242870	0.84[EUR][1000 genomes]
rs10243608	0.82[EUR][1000 genomes]
rs10244459	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10245017	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10247324	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10247815	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10250124	0.82[EUR][1000 genomes]
rs10256117	0.86[EUR][1000 genomes]
rs10263993	0.83[EUR][1000 genomes]
rs10264433	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10264555	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10265069	0.86[EUR][1000 genomes]
rs10266792	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10267253	0.84[EUR][1000 genomes]
rs10270326	0.86[EUR][1000 genomes]
rs10280816	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10281090	0.88[EUR][1000 genomes]
rs1060527	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13437994	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17680708	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17747927	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17748115	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17748222	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2013707	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28375318	0.85[EUR][1000 genomes]
rs28379824	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28472679	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28501161	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28533332	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28547918	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28607736	0.84[EUR][1000 genomes]
rs28634091	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28641990	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28663128	0.87[EUR][1000 genomes]
rs28675035	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28817095	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3778908	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3800814	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3800818	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3962133	0.82[EUR][1000 genomes]
rs4718417	0.82[EUR][1000 genomes]
rs57774708	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57875851	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60026498	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60972148	0.82[EUR][1000 genomes]
rs67408913	0.84[EUR][1000 genomes]
rs6965680	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6971508	0.84[AMR][1000 genomes]
rs6973897	0.87[EUR][1000 genomes]
rs71526586	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73137960	0.86[EUR][1000 genomes]
rs73137963	0.85[EUR][1000 genomes]
rs73139976	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73141980	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73143921	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73143998	0.86[EUR][1000 genomes]
rs73145911	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73145924	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73151646	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73151663	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs73151665	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7455757	0.84[EUR][1000 genomes]
rs7777631	0.86[EUR][1000 genomes]
rs7785883	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7796977	0.83[EUR][1000 genomes]
rs7809359	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7809535	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs868960	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs59693594	GS1-124K5.12	cis	Skin Sun Exposed Lower leg	GTEx
rs59693594	GS1-124K5.12	cis	Adipose Subcutaneous	GTEx
rs59693594	GS1-124K5.12	cis	Artery Tibial	GTEx

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66387600-66407200	Weak transcription	NH-A	brain
2	chr7:66387600-66409800	Weak transcription	Fetal Kidney	kidney
3	chr7:66387600-66428000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:66388200-66406800	Weak transcription	NHLF	lung
5	chr7:66388400-66401200	Weak transcription	Fetal Lung	lung
6	chr7:66388400-66406800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:66388400-66406800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr7:66388600-66403600	Weak transcription	HUVEC	blood vessel
9	chr7:66388600-66403800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:66388600-66406800	Weak transcription	NHDF-Ad	bronchial
11	chr7:66389000-66406800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:66389400-66405400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr7:66390600-66403800	Weak transcription	HSMM	muscle
14	chr7:66391200-66409800	Weak transcription	Brain Germinal Matrix	brain
15	chr7:66392600-66403400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr7:66393000-66402400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:66393000-66403600	Weak transcription	HepG2	liver
18	chr7:66393000-66406600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr7:66393400-66411800	Weak transcription	Stomach Mucosa	stomach
20	chr7:66393800-66422200	Weak transcription	Fetal Heart	heart
21	chr7:66394000-66403600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr7:66394200-66402000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr7:66394200-66403800	Weak transcription	Hela-S3	cervix
24	chr7:66394200-66405400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr7:66394200-66408000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr7:66394400-66405400	Weak transcription	HMEC	breast
27	chr7:66394400-66405600	Weak transcription	Colonic Mucosa	Colon
28	chr7:66395000-66404000	Weak transcription	NHEK	skin
29	chr7:66395400-66404000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:66395400-66406800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:66395400-66406800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr7:66395600-66402400	Weak transcription	Dnd41	blood
33	chr7:66395600-66403600	Weak transcription	A549	lung
34	chr7:66395600-66404600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr7:66395600-66405400	Weak transcription	Right Atrium	heart
36	chr7:66395600-66407000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr7:66395800-66400400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:66395800-66400400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:66395800-66404000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr7:66395800-66405400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr7:66395800-66406400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr7:66395800-66406800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr7:66395800-66406800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr7:66395800-66406800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr7:66395800-66408000	Weak transcription	Esophagus	oesophagus
46	chr7:66395800-66412800	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr7:66396000-66400400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr7:66396000-66400400	Weak transcription	Fetal Stomach	stomach
49	chr7:66396000-66401600	Weak transcription	Fetal Intestine Large	intestine
50	chr7:66396000-66403200	Enhancers	Primary T helper cells fromperipheralblood	blood

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