Variant report

Variant	rs7550607
Chromosome Location	chr1:173315018-173315019
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:173299888..173302293-chr1:173313328..173315226,3	K562	blood:
2	chr1:173299256..173302223-chr1:173313691..173316429,3	K562	blood:
3	chr1:173306339..173310503-chr1:173312166..173315307,4	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10399614	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11804254	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1342033	0.87[CHB][hapmap]
rs1342034	0.87[CHB][hapmap]
rs1361648	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1539256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1539257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1547811	0.87[CHB][hapmap]
rs16845679	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16845685	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16845722	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16845795	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16845819	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1935325	0.87[CHB][hapmap]
rs1935331	0.87[CHB][hapmap]
rs1985177	0.87[CHB][hapmap]
rs2027500	0.87[CHB][hapmap]
rs2901719	0.87[CHB][hapmap]
rs4258254	0.85[CHB][hapmap]
rs4916334	0.87[CHB][hapmap]
rs4916335	0.87[CHB][hapmap]
rs4916336	0.87[CHB][hapmap]
rs55882207	0.95[EUR][1000 genomes]
rs56307807	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56309152	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6425221	0.87[CHB][hapmap]
rs6688438	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7548710	0.87[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831915	chr1:173268424-173482157	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv523009	chr1:173305632-173324296	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7550607	NME7	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173299200-173316600	Weak transcription	Brain Angular Gyrus	brain
2	chr1:173299800-173316600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:173300600-173329200	Weak transcription	Primary T cells from cord blood	blood
4	chr1:173301400-173321200	Weak transcription	Ovary	ovary
5	chr1:173309200-173324600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:173311400-173315200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:173311600-173315200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:173311800-173334000	Weak transcription	HSMMtube	muscle
9	chr1:173315000-173315200	Enhancers	Gastric	stomach
10	chr1:173315000-173315200	Enhancers	Left Ventricle	heart
11	chr1:173315000-173315400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:173315000-173315600	Enhancers	HSMM	muscle

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