Variant report

Variant	rs16868730
Chromosome Location	chr8:102922790-102922791
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:102918268..102920256-chr8:102922072..102924621,2	K562	blood:
2	chr8:102916207..102919330-chr8:102919877..102923677,3	MCF-7	breast:
3	chr8:102915036..102919130-chr8:102919959..102923677,4	MCF-7	breast:
4	chr8:102921170..102923851-chr8:102931011..102933896,3	MCF-7	breast:

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10505015	1.00[CEU][hapmap]
rs11986127	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11996557	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs11997578	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997754	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997933	1.00[CHD][hapmap]
rs16868691	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16868707	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16868710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16868711	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16868715	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16868739	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16868741	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34561956	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35690650	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55754486	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55824424	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55897683	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55939093	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56047034	0.88[EUR][1000 genomes]
rs57350304	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58938702	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59217267	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59278862	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59332201	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61185137	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61383411	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7005622	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73280871	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73280876	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73280878	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73280879	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73280880	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73280885	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73280888	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73280891	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73280899	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73282603	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73282609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73282612	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73282613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73282614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73282618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73282620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73290530	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73696550	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73696551	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73696560	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73696564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73696586	1.00[EUR][1000 genomes]
rs7816729	1.00[JPT][hapmap];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018653	chr8:102818271-103009082	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv539700	chr8:102818271-103009082	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv465749	chr8:102847202-102929460	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv611819	chr8:102847202-102929460	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16868730	AZIN1	cis	lymphoblastoid	seeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102915200-102938800	Weak transcription	Aorta	Aorta
2	chr8:102916200-102932200	Weak transcription	Lung	lung
3	chr8:102916200-102942600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:102918800-102922800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:102919000-102923600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr8:102920600-102923200	Weak transcription	Fetal Heart	heart
7	chr8:102920600-102956600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:102920800-102923200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr8:102920800-102924000	Weak transcription	HMEC	breast
10	chr8:102920800-102925000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:102921000-102923000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr8:102921000-102923000	Enhancers	GM12878-XiMat	blood
13	chr8:102921000-102925000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:102921000-102930400	Weak transcription	NHDF-Ad	bronchial
15	chr8:102921200-102938200	Weak transcription	Ovary	ovary
16	chr8:102921400-102923200	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr8:102921400-102928800	Weak transcription	Primary T cells from cord blood	blood
18	chr8:102922200-102923800	Enhancers	Fetal Muscle Leg	muscle
19	chr8:102922400-102923000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr8:102922400-102923200	Enhancers	Psoas Muscle	Psoas
21	chr8:102922400-102923600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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