Variant report

Variant	rs34125589
Chromosome Location	chr7:128178519-128178520
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10085435	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10223975	0.84[EUR][1000 genomes]
rs10227608	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10231136	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10233059	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10241185	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10250369	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10253131	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10259359	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10261037	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10269844	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10270431	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10272840	0.83[AFR][1000 genomes]
rs10274878	0.80[AMR][1000 genomes]
rs10954205	0.83[AMR][1000 genomes]
rs11760285	0.90[ASN][1000 genomes]
rs11766319	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11768485	0.83[AMR][1000 genomes]
rs11769546	0.90[ASN][1000 genomes]
rs11771884	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12333625	0.88[EUR][1000 genomes]
rs12537208	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13224613	0.88[EUR][1000 genomes]
rs13226592	0.84[EUR][1000 genomes]
rs13233377	0.80[AMR][1000 genomes]
rs13235219	0.88[EUR][1000 genomes]
rs13237593	0.83[AMR][1000 genomes]
rs13246302	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13247746	0.84[EUR][1000 genomes]
rs28496126	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28521260	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28521711	0.83[EUR][1000 genomes]
rs34120723	0.85[EUR][1000 genomes]
rs34490491	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34751214	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34887739	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35247963	0.86[EUR][1000 genomes]
rs35871589	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3816421	0.81[EUR][1000 genomes]
rs55953818	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60029447	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60654313	0.82[EUR][1000 genomes]
rs6467181	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6467184	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6467201	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6943737	0.83[AMR][1000 genomes]
rs6946179	0.80[AMR][1000 genomes]
rs6958343	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6963982	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6967393	0.88[EUR][1000 genomes]
rs6969343	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6972787	0.80[AMR][1000 genomes]
rs71546785	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71546786	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71578280	0.90[ASN][1000 genomes]
rs7776915	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7777625	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7778169	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7786772	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7790839	0.82[EUR][1000 genomes]
rs7798172	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7811083	0.83[AMR][1000 genomes]
rs9690225	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9690934	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9692416	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9768808	0.86[EUR][1000 genomes]
rs9769753	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs34125589	CICP14	cis	Muscle Skeletal	GTEx
rs34125589	CICP14	cis	Nerve Tibial	GTEx
rs34125589	METTL2B	cis	Artery Tibial	GTEx
rs34125589	CICP14	cis	Esophagus Muscularis	GTEx
rs34125589	METTL2B	cis	Skin Sun Exposed Lower leg	GTEx
rs34125589	RP11-274B21.10	cis	Esophagus Muscularis	GTEx
rs34125589	CICP14	cis	lung	GTEx
rs34125589	CICP14	cis	Thyroid	GTEx
rs34125589	RP11-274B21.10	cis	Thyroid	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128172600-128178600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:128172600-128178800	Weak transcription	Esophagus	oesophagus
3	chr7:128172600-128179200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr7:128172600-128179400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:128172600-128179600	Weak transcription	Lung	lung
6	chr7:128172600-128184800	Weak transcription	Spleen	Spleen
7	chr7:128172600-128187600	Weak transcription	Pancreas	Pancrea
8	chr7:128172600-128189800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr7:128172600-128191000	Weak transcription	Ovary	ovary
10	chr7:128172600-128191200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:128172600-128193400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:128172600-128210800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:128172600-128214800	Weak transcription	Gastric	stomach
14	chr7:128172800-128239800	Weak transcription	Small Intestine	intestine
15	chr7:128173000-128178800	Weak transcription	Stomach Mucosa	stomach
16	chr7:128173000-128188000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr7:128173000-128190400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:128173000-128190800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr7:128173000-128231800	Weak transcription	Colonic Mucosa	Colon
20	chr7:128173000-128231800	Weak transcription	Fetal Kidney	kidney
21	chr7:128173200-128183200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr7:128173400-128188200	Weak transcription	Fetal Brain Male	brain
23	chr7:128173600-128181200	Weak transcription	Fetal Intestine Large	intestine
24	chr7:128173600-128187200	Weak transcription	Brain Anterior Caudate	brain
25	chr7:128173600-128201000	Weak transcription	Psoas Muscle	Psoas
26	chr7:128173600-128214800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:128173800-128178800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr7:128173800-128178800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:128173800-128178800	Weak transcription	Thymus	Thymus
30	chr7:128173800-128179000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr7:128173800-128183000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:128173800-128183200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr7:128173800-128183200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr7:128173800-128184800	Weak transcription	Fetal Lung	lung
35	chr7:128173800-128186600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr7:128173800-128186800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr7:128173800-128186800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr7:128173800-128186800	Weak transcription	HMEC	breast
39	chr7:128173800-128186800	Weak transcription	NHDF-Ad	bronchial
40	chr7:128173800-128187000	Weak transcription	Primary B cells from cord blood	blood
41	chr7:128173800-128187400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:128173800-128190800	Weak transcription	Brain Substantia Nigra	brain
43	chr7:128173800-128191000	Weak transcription	Brain Angular Gyrus	brain
44	chr7:128173800-128197800	Weak transcription	Right Atrium	heart
45	chr7:128173800-128199800	Weak transcription	Right Ventricle	heart
46	chr7:128173800-128201000	Weak transcription	Brain Germinal Matrix	brain
47	chr7:128173800-128214800	Weak transcription	Rectal Smooth Muscle	rectum
48	chr7:128173800-128234400	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr7:128174000-128178800	Weak transcription	HSMM	muscle
50	chr7:128174000-128179000	Weak transcription	A549	lung

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