Variant report

Variant	rs10752946
Chromosome Location	chr1:172376632-172376633
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:172355369..172358072-chr1:172375699..172377577,3	K562	blood:
2	chr1:172369690..172372664-chr1:172375281..172378143,4	K562	blood:
3	chr1:172355369..172357574-chr1:172375725..172377577,2	K562	blood:
4	chr1:172375496..172379926-chr1:172385834..172389157,4	MCF-7	breast:
5	chr1:172368576..172370246-chr1:172375053..172377189,2	MCF-7	breast:
6	chr1:172374826..172377072-chr1:172379296..172381158,2	K562	blood:
7	chr1:172375080..172377072-chr1:172379194..172380796,2	K562	blood:

Variant related genes	Relation type
ENSG00000197959	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1063412	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.81[TSI][hapmap];0.81[ASN][1000 genomes]
rs10752957	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10798005	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11484605	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12076560	0.82[ASN][1000 genomes]
rs12134821	1.00[YRI][hapmap]
rs13932	1.00[CHB][hapmap];0.84[CHD][hapmap];0.81[ASN][1000 genomes]
rs2269613	0.95[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs2269614	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs2269615	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.81[ASN][1000 genomes]
rs2269616	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2285170	0.95[CHB][hapmap]
rs2285171	0.95[CHB][hapmap];0.84[CHD][hapmap]
rs2285172	0.80[ASN][1000 genomes]
rs2285173	0.95[CHB][hapmap];0.84[CHD][hapmap];0.80[ASN][1000 genomes]
rs2285174	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs2285175	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs2285176	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs2301455	1.00[CEU][hapmap];0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs2422141	0.94[ASN][1000 genomes]
rs3213563	0.81[ASN][1000 genomes]
rs3937046	1.00[CHB][hapmap];0.84[CHD][hapmap]
rs4916186	0.97[ASN][1000 genomes]
rs4916258	0.81[ASN][1000 genomes]
rs6424923	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs6658843	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs6673869	0.95[CHB][hapmap];0.84[CHD][hapmap];0.80[ASN][1000 genomes]
rs6674073	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs6689377	0.80[ASN][1000 genomes]
rs6702667	0.85[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs7411767	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7516301	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs929098	0.80[ASN][1000 genomes]
rs9425308	0.95[CHB][hapmap];0.98[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9425311	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.96[ASN][1000 genomes]
rs9425313	0.94[ASN][1000 genomes]
rs9425316	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9425596	1.00[YRI][hapmap]
rs9425598	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9425600	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9425601	0.99[ASN][1000 genomes]
rs9425602	0.97[ASN][1000 genomes]
rs9425604	0.97[ASN][1000 genomes]
rs9425606	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10752946	SNORD47	cis	cerebellum	SCAN
rs10752946	PIGC	cis	Whole Blood	GTEx

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172352400-172386400	Weak transcription	Psoas Muscle	Psoas
2	chr1:172368400-172390800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:172368800-172376800	Weak transcription	Fetal Brain Male	brain
4	chr1:172369600-172377000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:172369600-172377600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:172370200-172385600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:172370600-172378200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:172370600-172378200	Weak transcription	Fetal Kidney	kidney
9	chr1:172372800-172381600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:172373000-172378200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:172373000-172378200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr1:172373000-172390800	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:172373000-172390800	Weak transcription	Brain Substantia Nigra	brain
14	chr1:172373000-172411800	Weak transcription	Brain Angular Gyrus	brain
15	chr1:172375400-172377400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:172375400-172383600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:172375600-172377600	Weak transcription	NHDF-Ad	bronchial
18	chr1:172375600-172378000	Weak transcription	NHEK	skin
19	chr1:172375600-172378200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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