Variant report

Variant	rs7512745
Chromosome Location	chr1:214508310-214508311
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	chr1:214506766..214508491-chr1:214513440..214516406,2	K562	blood:
2	chr1:214453859..214455738-chr1:214507029..214508685,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143499	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1005709	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10735513	0.86[ASN][1000 genomes]
rs10779613	1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs10864092	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs11120290	0.80[JPT][hapmap];0.94[ASN][1000 genomes]
rs11120292	0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11120295	1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs1134647	1.00[CHB][hapmap];0.92[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1135352	0.86[CHB][hapmap];0.81[CHD][hapmap]
rs12024395	0.96[ASN][1000 genomes]
rs12057464	0.86[CEU][hapmap];0.82[JPT][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12124666	1.00[CHB][hapmap];0.92[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12137369	0.84[ASN][1000 genomes]
rs2270704	1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2291830	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs2936017	0.86[CHB][hapmap];0.81[CHD][hapmap]
rs3002297	0.86[CHB][hapmap]
rs3002300	0.86[CHB][hapmap];0.81[CHD][hapmap]
rs3002303	0.86[CHB][hapmap];0.81[CHD][hapmap]
rs3002307	0.86[CHB][hapmap];0.81[CHD][hapmap]
rs3013451	0.86[CHB][hapmap];0.81[CHD][hapmap]
rs4655242	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs4655245	1.00[CHB][hapmap];0.92[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4655335	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6419473	0.81[ASN][1000 genomes]
rs6540817	1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs6540818	0.82[JPT][hapmap];0.94[ASN][1000 genomes]
rs6540819	1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs6540820	0.96[ASN][1000 genomes]
rs6540821	1.00[CHB][hapmap];0.92[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6540822	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6660940	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6662275	0.96[ASN][1000 genomes]
rs6662864	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs6665343	1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs6670066	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6670349	0.86[ASN][1000 genomes]
rs6673096	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6676709	0.91[CHB][hapmap];0.83[ASN][1000 genomes]
rs6687411	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs6691083	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6700976	1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs6701764	0.94[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7419021	1.00[CHB][hapmap];0.92[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap]
rs7519274	0.85[ASN][1000 genomes]
rs9429915	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9429918	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9970083	0.91[CHB][hapmap];0.81[CHD][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7512745	RPS6KC1	cis	cerebellum	SCAN
rs7512745	SYT14	cis	parietal	SCAN

Chromatin state (count:116 , 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	chr1:214477400-214511000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:214482200-214510600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:214484400-214510800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:214484800-214522000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr1:214485000-214513200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:214486200-214526000	Weak transcription	Psoas Muscle	Psoas
8	chr1:214487400-214509400	Strong transcription	Primary T cells from cord blood	blood
9	chr1:214487800-214510600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:214488200-214517600	Weak transcription	Brain Germinal Matrix	brain
11	chr1:214488200-214520800	Weak transcription	Hela-S3	cervix
12	chr1:214488800-214510600	Weak transcription	Fetal Brain Male	brain
13	chr1:214490800-214518200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:214492800-214509200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr1:214493000-214510600	Weak transcription	Aorta	Aorta
16	chr1:214493000-214519800	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:214493000-214534600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:214493400-214508600	Strong transcription	HepG2	liver
19	chr1:214493800-214519000	Weak transcription	Fetal Thymus	thymus
20	chr1:214495600-214510400	Weak transcription	NH-A	brain
21	chr1:214497800-214509000	Strong transcription	Dnd41	blood
22	chr1:214500000-214508800	Strong transcription	Fetal Intestine Small	intestine
23	chr1:214500200-214510000	Weak transcription	GM12878-XiMat	blood
24	chr1:214501800-214512000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr1:214501800-214517800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr1:214502600-214510800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr1:214502600-214515000	Weak transcription	Brain Angular Gyrus	brain
28	chr1:214502800-214510400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:214503200-214510600	Weak transcription	NHDF-Ad	bronchial
30	chr1:214503200-214510800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:214503200-214537800	Weak transcription	Gastric	stomach
32	chr1:214503400-214510200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr1:214503400-214513000	Weak transcription	K562	blood
34	chr1:214503400-214518400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr1:214503600-214511000	Weak transcription	Fetal Brain Female	brain
36	chr1:214503600-214511200	Weak transcription	Colonic Mucosa	Colon
37	chr1:214503800-214515800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:214504000-214510400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:214504400-214511000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr1:214504600-214510200	Weak transcription	Liver	Liver
41	chr1:214504600-214517600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr1:214504600-214533200	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr1:214504800-214508600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:214504800-214510600	Weak transcription	Right Atrium	heart
45	chr1:214504800-214512000	Weak transcription	Primary B cells from cord blood	blood
46	chr1:214505200-214510800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:214505400-214512000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr1:214505600-214510600	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr1:214506000-214509000	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr1:214506400-214508400	Enhancers	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links