Variant report

Variant	rs10242806
Chromosome Location	chr7:128347069-128347070
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:128346237..128350299-chr7:128378242..128382310,4	K562	blood:
2	chr7:128346113..128353140-chr7:128377714..128381349,8	K562	blood:

Variant related genes	Relation type
ENSG00000128595	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 10 )

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

rs_ID	r²[population]
rs10224862	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10270985	0.83[EUR][1000 genomes]
rs10274878	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10276810	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10954205	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11761312	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11766319	0.82[AMR][1000 genomes]
rs11768485	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]
rs12535238	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536288	0.89[ASN][1000 genomes]
rs12706858	1.00[ASN][1000 genomes]
rs13233377	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13237593	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs339070	0.90[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];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs339093	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]
rs35247963	0.82[EUR][1000 genomes]
rs35336068	0.86[AFR][1000 genomes]
rs35825132	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35871589	0.81[EUR][1000 genomes]
rs3816421	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4289745	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6467181	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs6467205	0.86[EUR][1000 genomes]
rs6943737	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6946179	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6954329	0.88[AFR][1000 genomes]
rs6960296	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6961754	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6971819	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6972787	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6976879	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6977126	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71548762	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7778731	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7787764	0.82[AMR][1000 genomes];0.87[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[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs7804472	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7810047	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7811083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9768808	0.82[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:10)

SNP	Gene	Cis/trans	Tissue	Source
rs10242806	RP11-274B21.10	cis	Thyroid	GTEx
rs10242806	RP11-274B21.3	cis	Thyroid	GTEx
rs10242806	METTL2B	cis	Artery Tibial	GTEx
rs10242806	CICP14	cis	Skin Sun Exposed Lower leg	GTEx
rs10242806	CICP14	cis	lung	GTEx
rs10242806	CICP14	cis	Esophagus Muscularis	GTEx
rs10242806	CICP14	cis	Thyroid	GTEx
rs10242806	CICP14	cis	Nerve Tibial	GTEx
rs10242806	CICP14	cis	Muscle Skeletal	GTEx
rs10242806	CPA5	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128338600-128349000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:128339000-128358800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:128344000-128348200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:128344000-128349000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:128344200-128348600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr7:128344400-128348600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr7:128345200-128350200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:128345200-128350200	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr7:128345400-128348000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:128345400-128348000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:128345400-128348400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr7:128345400-128348600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:128345400-128348600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:128345400-128348800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr7:128346000-128349000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:128346200-128350400	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr7:128346400-128350200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:128346400-128350200	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr7:128346400-128350200	Weak transcription	NHEK	skin
20	chr7:128346400-128353400	Weak transcription	HMEC	breast
21	chr7:128346400-128354000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:128346600-128347200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:128346600-128353400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:128346800-128348600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr7:128347000-128348000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr7:128347000-128348600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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