Variant report

Variant	rs12127760
Chromosome Location	chr1:214512306-214512307
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:214505230..214508273-chr1:214509081..214512875,4	K562	blood:
2	chr1:214505285..214508273-chr1:214509081..214512875,3	K562	blood:
3	chr1:214510153..214512455-chr1:214513902..214515768,2	K562	blood:
4	chr1:214501183..214505106-chr1:214509750..214514564,4	K562	blood:

Variant related genes	Relation type
ENSG00000143499	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11120303	1.00[MKK][hapmap]
rs12124373	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12136717	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12144357	1.00[ASW][hapmap];0.81[CEU][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56403982	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72755493	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72755497	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72755502	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72757908	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72757910	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72757925	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs870118	0.90[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12127760	RPS6KC1	cis	cerebellum	SCAN
rs12127760	SYT14	cis	parietal	SCAN

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214471000-214517400	Weak transcription	Fetal Kidney	kidney
2	chr1:214484800-214522000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr1:214485000-214513200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:214486200-214526000	Weak transcription	Psoas Muscle	Psoas
5	chr1:214488200-214517600	Weak transcription	Brain Germinal Matrix	brain
6	chr1:214488200-214520800	Weak transcription	Hela-S3	cervix
7	chr1:214490800-214518200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:214493000-214519800	Weak transcription	Brain Hippocampus Middle	brain
9	chr1:214493000-214534600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:214493800-214519000	Weak transcription	Fetal Thymus	thymus
11	chr1:214501800-214517800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:214502600-214515000	Weak transcription	Brain Angular Gyrus	brain
13	chr1:214503200-214537800	Weak transcription	Gastric	stomach
14	chr1:214503400-214513000	Weak transcription	K562	blood
15	chr1:214503400-214518400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr1:214503800-214515800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:214504600-214517600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr1:214504600-214533200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:214506800-214512600	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr1:214506800-214513200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:214506800-214514600	Weak transcription	A549	lung
22	chr1:214507000-214517400	Weak transcription	HUVEC	blood vessel
23	chr1:214507000-214529800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr1:214508000-214517200	Weak transcription	Fetal Lung	lung
25	chr1:214508000-214517400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr1:214508000-214517400	Weak transcription	NHLF	lung
27	chr1:214508200-214514200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:214508400-214517200	Weak transcription	Placenta	Placenta
29	chr1:214508400-214517800	Weak transcription	Primary B cells from peripheral blood	blood
30	chr1:214508400-214520000	Weak transcription	Thymus	Thymus
31	chr1:214508400-214524600	Weak transcription	Lung	lung
32	chr1:214508400-214524800	Weak transcription	Spleen	Spleen
33	chr1:214508400-214529600	Weak transcription	Pancreas	Pancrea
34	chr1:214508400-214535000	Weak transcription	Esophagus	oesophagus
35	chr1:214508600-214512400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr1:214508800-214512400	Weak transcription	Fetal Intestine Small	intestine
37	chr1:214508800-214513800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:214508800-214514000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr1:214508800-214517000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr1:214508800-214520400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr1:214508800-214528600	Weak transcription	Fetal Intestine Large	intestine
42	chr1:214509200-214523200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:214509400-214516600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr1:214509800-214512600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr1:214510200-214513800	Strong transcription	Liver	Liver
46	chr1:214510200-214514200	Strong transcription	Primary T cells from cord blood	blood
47	chr1:214510200-214514200	Weak transcription	NHEK	skin
48	chr1:214510400-214513000	Strong transcription	HepG2	liver
49	chr1:214510600-214513200	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr1:214510600-214513400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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