Variant report

Variant	rs7523448
Chromosome Location	chr1:185094277-185094278
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:185085659..185087885-chr1:185092859..185095086,2	K562	blood:
2	chr1:185093263..185095350-chr1:185097304..185099171,2	K562	blood:
3	chr1:185091571..185094298-chr1:185128377..185130619,2	K562	blood:
4	chr1:185093263..185096920-chr1:185097304..185100679,5	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1053166	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10737256	0.84[TSI][hapmap]
rs10911679	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12063375	0.84[AMR][1000 genomes]
rs12119759	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12385701	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12408074	0.88[ASN][1000 genomes]
rs12563135	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12566404	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1322646	0.84[TSI][hapmap]
rs1407557	0.84[TSI][hapmap]
rs2146329	0.84[TSI][hapmap]
rs2378957	0.82[ASW][hapmap];0.90[GIH][hapmap];0.81[LWK][hapmap];0.84[MKK][hapmap];0.86[YRI][hapmap]
rs28609768	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34916432	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34969721	0.93[EUR][1000 genomes]
rs35507672	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6674490	0.86[TSI][hapmap]
rs6677056	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.86[YRI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6684586	0.84[TSI][hapmap]
rs6699626	0.93[EUR][1000 genomes]
rs7548237	0.88[ASW][hapmap];0.96[CEU][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs950327	0.96[CEU][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548396	chr1:185038104-185151378	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv521613	chr1:185071831-185171869	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv872588	chr1:185081903-185117688	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7523448	QSOX1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185018400-185101800	Weak transcription	Fetal Brain Male	brain
2	chr1:185054400-185101800	Weak transcription	A549	lung
3	chr1:185055400-185096200	Weak transcription	Hela-S3	cervix
4	chr1:185056200-185124200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:185057600-185094600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:185059000-185124800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:185067800-185095400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:185068400-185110200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:185070000-185101400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr1:185073600-185115000	Weak transcription	NH-A	brain
11	chr1:185078800-185102000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr1:185079800-185102000	Weak transcription	Small Intestine	intestine
13	chr1:185080000-185101000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr1:185082200-185095200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:185082600-185100400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr1:185082600-185101400	Weak transcription	Esophagus	oesophagus
17	chr1:185082600-185125400	Weak transcription	Spleen	Spleen
18	chr1:185084200-185103400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:185084200-185124400	Weak transcription	Right Ventricle	heart
20	chr1:185084600-185102400	Weak transcription	Aorta	Aorta
21	chr1:185084600-185104200	Weak transcription	Pancreas	Pancrea
22	chr1:185085000-185121400	Weak transcription	NHEK	skin
23	chr1:185085400-185125000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:185085600-185094400	Weak transcription	Lung	lung
25	chr1:185086000-185101000	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr1:185086000-185107000	Strong transcription	Liver	Liver
27	chr1:185086000-185120200	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr1:185086200-185101000	Weak transcription	Thymus	Thymus
29	chr1:185086200-185101200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:185086400-185098000	Strong transcription	Placenta	Placenta
31	chr1:185086400-185100000	Strong transcription	Primary B cells from peripheral blood	blood
32	chr1:185086600-185099800	Strong transcription	Adipose Nuclei	Adipose
33	chr1:185086600-185100000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:185086800-185098000	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr1:185087000-185125000	Weak transcription	Gastric	stomach
36	chr1:185087200-185095200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:185087200-185101800	Weak transcription	HMEC	breast
38	chr1:185087600-185117000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr1:185087800-185104000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr1:185088000-185098600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:185088000-185107800	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr1:185088200-185099600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:185088200-185100200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:185088200-185120600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:185088400-185100200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:185088600-185097800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr1:185088600-185099400	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr1:185088600-185099400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:185088600-185099600	Strong transcription	Primary B cells from cord blood	blood
50	chr1:185088600-185100200	Strong transcription	Duodenum Smooth Muscle	Duodenum

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