Variant report

Variant	rs12670251
Chromosome Location	chr7:128175523-128175524
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:128175309-128175570	Hela-S3	cervix:	n/a	n/a
2	HEY1	chr7:128175255-128175534	K562	blood:	n/a	n/a
3	POLR2A	chr7:128175221-128175552	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:128139215..128142117-chr7:128174144..128176717,2	K562	blood:

Variant related genes	Relation type
ENSG00000273270	TF binding region

Extended variants
information (count: 49 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10954186	0.84[EUR][1000 genomes]
rs11973151	0.82[EUR][1000 genomes]
rs12668292	0.82[EUR][1000 genomes]
rs12669878	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12671391	0.81[EUR][1000 genomes]
rs12671449	0.90[EUR][1000 genomes]
rs12671633	0.90[EUR][1000 genomes]
rs12673746	0.88[EUR][1000 genomes]
rs1839595	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34648097	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4448212	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4490755	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4530963	0.83[EUR][1000 genomes]
rs4731485	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55744429	0.81[EUR][1000 genomes]
rs56199722	0.83[ASN][1000 genomes]
rs56329212	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57968683	0.81[EUR][1000 genomes]
rs58210776	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59475830	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59955357	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60796599	0.80[EUR][1000 genomes]
rs61031958	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61479217	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62481136	0.90[EUR][1000 genomes]
rs62481142	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62481155	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62481886	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62481894	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62481898	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62483264	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62483265	0.81[EUR][1000 genomes]
rs62483269	0.82[EUR][1000 genomes]
rs62483273	0.81[EUR][1000 genomes]
rs62483274	0.83[EUR][1000 genomes]
rs62483275	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62483276	0.85[EUR][1000 genomes]
rs62483280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62483285	0.90[AFR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62483299	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62483349	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62483350	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6946411	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6973650	0.80[AFR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7783334	0.81[EUR][1000 genomes]
rs7799914	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7809300	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9689994	0.83[EUR][1000 genomes]
rs9690750	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs12670251	RP11-274B21.4	cis	Adipose Subcutaneous	GTEx
rs12670251	RP11-274B21.2	cis	Adipose Subcutaneous	GTEx
rs12670251	RP11-274B21.4	cis	Nerve Tibial	GTEx
rs12670251	RP11-274B21.1	cis	Adipose Subcutaneous	GTEx
rs12670251	RP11-274B21.4	cis	Whole Blood	GTEx

Chromatin state (count:123 , 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	chr7:128173200-128177200	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr7:128173200-128183200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr7:128173400-128188200	Weak transcription	Fetal Brain Male	brain
24	chr7:128173600-128175800	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr7:128173600-128175800	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr7:128173600-128178200	Weak transcription	Fetal Muscle Leg	muscle
27	chr7:128173600-128181200	Weak transcription	Fetal Intestine Large	intestine
28	chr7:128173600-128187200	Weak transcription	Brain Anterior Caudate	brain
29	chr7:128173600-128201000	Weak transcription	Psoas Muscle	Psoas
30	chr7:128173600-128214800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr7:128173800-128175800	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr7:128173800-128175800	Strong transcription	Fetal Thymus	thymus
33	chr7:128173800-128176000	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr7:128173800-128176000	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr7:128173800-128176200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr7:128173800-128176400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr7:128173800-128177000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:128173800-128177200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr7:128173800-128178200	Weak transcription	Liver	Liver
40	chr7:128173800-128178200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr7:128173800-128178800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr7:128173800-128178800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:128173800-128178800	Weak transcription	Thymus	Thymus
44	chr7:128173800-128179000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr7:128173800-128183000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:128173800-128183200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr7:128173800-128183200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr7:128173800-128184800	Weak transcription	Fetal Lung	lung
49	chr7:128173800-128186600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr7:128173800-128186800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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