Variant report

Variant	rs1547529
Chromosome Location	chr7:65723846-65723847
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65723144..65728199-chr7:65728975..65732858,5	K562	blood:
2	chr7:65715220..65718095-chr7:65721479..65725150,3	MCF-7	breast:

Extended variants
information (count: 78 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10261710	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10447522	0.82[YRI][hapmap]
rs1065265	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10950026	1.00[CEU][hapmap]
rs10950027	0.81[EUR][1000 genomes]
rs10950029	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs10950035	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10950036	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10950040	0.89[EUR][1000 genomes]
rs11766183	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11767262	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11769702	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11770063	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12667200	0.83[ASN][1000 genomes]
rs12668269	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12670811	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12671152	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12671834	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12672427	0.89[EUR][1000 genomes]
rs160641	0.86[ASW][hapmap];1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap]
rs1695820	0.82[YRI][hapmap]
rs17138149	1.00[ASW][hapmap];1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17138156	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1909508	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2088655	0.82[YRI][hapmap]
rs2173571	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2279757	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2420456	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs313818	0.93[YRI][hapmap]
rs313829	0.87[CEU][hapmap];0.83[LWK][hapmap];0.89[TSI][hapmap];0.88[YRI][hapmap]
rs313830	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs316305	0.86[ASW][hapmap];1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap]
rs316306	0.86[ASW][hapmap];1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap]
rs316323	0.86[ASW][hapmap];1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap]
rs316324	0.86[ASW][hapmap];1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap]
rs316328	0.84[ASW][hapmap];1.00[CEU][hapmap];0.90[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs35459055	0.91[EUR][1000 genomes]
rs3936065	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4718325	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4718335	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4718346	0.92[EUR][1000 genomes]
rs4718348	0.83[EUR][1000 genomes]
rs6460276	0.82[EUR][1000 genomes]
rs6460281	1.00[ASW][hapmap];1.00[CEU][hapmap];0.97[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6460298	0.91[EUR][1000 genomes]
rs66594357	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67775320	0.89[EUR][1000 genomes]
rs6945896	0.91[EUR][1000 genomes]
rs6947339	0.82[YRI][hapmap]
rs6960848	0.89[EUR][1000 genomes]
rs6962717	0.82[YRI][hapmap]
rs6969224	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6970498	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6979636	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73142233	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73142245	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73142265	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73146609	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73148639	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73148689	0.89[EUR][1000 genomes]
rs73150604	0.91[EUR][1000 genomes]
rs73376394	0.80[EUR][1000 genomes]
rs73376401	0.81[EUR][1000 genomes]
rs7782212	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7783889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7785117	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7786735	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs778697	0.82[YRI][hapmap]
rs778711	0.82[YRI][hapmap]
rs778720	0.84[YRI][hapmap]
rs778736	0.82[YRI][hapmap]
rs7801332	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7810213	0.91[EUR][1000 genomes]
rs7811204	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][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	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv1028692	chr7:65673136-65751069	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv538908	chr7:65673136-65751069	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs1547529	GS1-124K5.4	cis	Stomach	GTEx
rs1547529	ZNF92	cis	parietal	SCAN
rs1547529	GS1-124K5.4	cis	Esophagus Mucosa	GTEx
rs1547529	RABGEF1	cis	parietal	SCAN
rs1547529	GS1-124K5.4	cis	Artery Aorta	GTEx
rs1547529	RABGEF1	cis	cerebellum	SCAN
rs1547529	GUSB	cis	parietal	SCAN
rs1547529	ZNF273	cis	cerebellum	SCAN
rs1547529	RNU6-96P	cis	Thyroid	GTEx
rs1547529	GTF2IRD1P1	cis	Thyroid	GTEx
rs1547529	GS1-124K5.11	cis	Thyroid	GTEx
rs1547529	RP4-756H11.3	cis	Muscle Skeletal	GTEx

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65701600-65729200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr7:65704000-65726800	Weak transcription	HSMM	muscle
3	chr7:65704200-65729200	Weak transcription	Aorta	Aorta
4	chr7:65704200-65731200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:65704400-65746800	Weak transcription	Pancreas	Pancrea
6	chr7:65705800-65729200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:65712800-65729200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr7:65719800-65730400	Weak transcription	Right Ventricle	heart
9	chr7:65720800-65725800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:65721200-65728400	Weak transcription	Fetal Lung	lung
11	chr7:65721400-65728800	Weak transcription	NHLF	lung
12	chr7:65722200-65727000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:65722400-65724800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:65722600-65724200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:65722600-65724200	Enhancers	Osteobl	bone
16	chr7:65722800-65724200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr7:65722800-65724400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr7:65722800-65724800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:65722800-65725800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:65722800-65725800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr7:65723000-65724400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr7:65723200-65724000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr7:65723200-65724000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr7:65723200-65724000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:65723200-65724200	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr7:65723200-65724200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:65723200-65724200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:65723200-65724600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:65723200-65728200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:65723400-65724000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:65723600-65724200	Enhancers	Brain Cingulate Gyrus	brain
32	chr7:65723600-65724200	Enhancers	Stomach Mucosa	stomach
33	chr7:65723600-65728400	Weak transcription	NHEK	skin
34	chr7:65723800-65724200	Enhancers	HMEC	breast
35	chr7:65723800-65725600	Weak transcription	NHDF-Ad	bronchial
36	chr7:65723800-65727000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:65723800-65727200	Weak transcription	Ovary	ovary
38	chr7:65723800-65728800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr7:65723800-65728800	Weak transcription	Liver	Liver
40	chr7:65723800-65730200	Weak transcription	Muscle Satellite Cultured Cells	--

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