Variant report

Variant	rs339093
Chromosome Location	chr7:128356548-128356549
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:128350382..128352686-chr7:128356502..128358427,2	K562	blood:
2	chr7:128355752..128358740-chr7:128362417..128366090,6	K562	blood:
3	chr7:128351186..128353763-chr7:128356302..128358427,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10085435	0.81[EUR][1000 genomes]
rs10224862	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10233059	0.82[EUR][1000 genomes]
rs10241185	0.82[EUR][1000 genomes]
rs10242806	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10253131	0.84[EUR][1000 genomes]
rs10259359	0.80[EUR][1000 genomes]
rs10270431	0.84[EUR][1000 genomes]
rs10270985	0.87[EUR][1000 genomes]
rs10274878	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10276810	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10954205	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11761312	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11768485	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12333625	0.84[EUR][1000 genomes]
rs12535238	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536288	0.89[ASN][1000 genomes]
rs12706858	1.00[ASN][1000 genomes]
rs13224613	0.84[EUR][1000 genomes]
rs13233377	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13235219	0.84[EUR][1000 genomes]
rs13237593	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28521711	0.84[EUR][1000 genomes]
rs339070	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs339071	1.00[ASN][1000 genomes]
rs339074	1.00[ASN][1000 genomes]
rs339079	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];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34120723	0.82[EUR][1000 genomes]
rs34490491	0.84[EUR][1000 genomes]
rs34751214	0.84[EUR][1000 genomes]
rs35247963	0.87[EUR][1000 genomes]
rs35825132	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35871589	0.85[EUR][1000 genomes]
rs3816421	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4289745	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6467181	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6467201	0.84[EUR][1000 genomes]
rs6467205	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6943737	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6946179	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6960296	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6961754	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6967393	0.84[EUR][1000 genomes]
rs6971819	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6972787	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6976879	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6977126	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71548762	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7776915	0.81[EUR][1000 genomes]
rs7778731	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7787764	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7790478	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7794447	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7804472	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7810047	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7811083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9690934	0.84[EUR][1000 genomes]
rs9692416	0.84[EUR][1000 genomes]
rs9768808	0.87[EUR][1000 genomes]
rs9769753	0.84[EUR][1000 genomes]

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	nsv427806	chr7:128179989-128428182	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1016979	chr7:128333070-128534438	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs339093	CICP14	cis	Thyroid	GTEx
rs339093	CICP14	cis	Nerve Tibial	GTEx
rs339093	CICP14	cis	Esophagus Muscularis	GTEx
rs339093	CICP14	cis	lung	GTEx
rs339093	RP11-274B21.10	cis	Thyroid	GTEx
rs339093	CICP14	cis	Muscle Skeletal	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128339000-128358800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:128349400-128378600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:128349800-128378200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:128349800-128378400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr7:128355400-128356800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:128356200-128357800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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