Variant report

Variant	rs1317810
Chromosome Location	chr1:224731396-224731397
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:224726760..224729001-chr1:224731332..224734709,3	MCF-7	breast:
2	chr1:224726104..224729814-chr1:224730643..224733087,3	K562	blood:
3	chr1:224691785..224694347-chr1:224730070..224732197,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10799582	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[CHD][hapmap];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10916635	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10916636	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10916637	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10916638	0.88[EUR][1000 genomes]
rs10916639	0.95[EUR][1000 genomes]
rs10916640	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12033478	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12043625	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12057775	0.91[CEU][hapmap];0.93[CHB][hapmap];0.89[EUR][1000 genomes]
rs12062991	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12068420	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12072482	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1499283	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16849369	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2050625	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2794804	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2794808	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4654047	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61825839	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61825840	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61825841	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6656824	0.98[EUR][1000 genomes]
rs698277	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs698280	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs712068	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.86[JPT][hapmap];0.87[LWK][hapmap];0.91[MKK][hapmap];0.83[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs712070	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs712071	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs712072	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[JPT][hapmap];0.87[LWK][hapmap];0.94[MEX][hapmap];0.91[MKK][hapmap];0.83[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs712073	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs712074	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs712075	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs712076	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs712082	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs712084	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs712085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs712087	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs712092	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7541415	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs791391	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs791393	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs791508	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs791509	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs791510	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs791511	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs791512	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs880368	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs983948	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs985301	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs989755	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1317810	LEFTY1	cis	parietal	SCAN

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224726800-224732400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:224727200-224731600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr1:224727200-224731600	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr1:224727400-224731400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:224727600-224731600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:224727600-224731600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:224727600-224732800	Enhancers	HMEC	breast
8	chr1:224727800-224731600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr1:224727800-224731800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr1:224728200-224732600	Enhancers	HSMM	muscle
11	chr1:224728400-224732800	Enhancers	Dnd41	blood
12	chr1:224729000-224731600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:224729000-224732400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr1:224729000-224733000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:224729200-224732000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:224729200-224732600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:224729600-224731600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:224729600-224731800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:224729600-224732200	Enhancers	K562	blood
20	chr1:224729800-224732000	Enhancers	HSMMtube	muscle
21	chr1:224729800-224732800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:224729800-224732800	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr1:224730000-224731600	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr1:224730200-224731400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:224730200-224731600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr1:224730400-224731400	Flanking Active TSS	Osteobl	bone
27	chr1:224730400-224731600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:224730400-224731800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr1:224730600-224731400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr1:224730600-224731600	Enhancers	Pancreas	Pancrea
31	chr1:224730600-224732800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:224730800-224731400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr1:224730800-224731400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:224730800-224731400	Enhancers	Adipose Nuclei	Adipose
35	chr1:224730800-224731400	Enhancers	Duodenum Mucosa	Duodenum
36	chr1:224730800-224731400	Enhancers	Spleen	Spleen
37	chr1:224730800-224731400	Flanking Active TSS	NH-A	brain
38	chr1:224730800-224731400	Flanking Active TSS	NHEK	skin
39	chr1:224730800-224731600	Enhancers	Fetal Muscle Leg	muscle
40	chr1:224730800-224731800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:224730800-224731800	Flanking Active TSS	NHDF-Ad	bronchial
42	chr1:224730800-224732800	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr1:224730800-224733400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:224731000-224731400	Flanking Active TSS	Hela-S3	cervix
45	chr1:224731000-224731600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr1:224731000-224731600	Enhancers	Psoas Muscle	Psoas
47	chr1:224731000-224731600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr1:224731000-224733000	Enhancers	NHLF	lung
49	chr1:224731200-224731800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:224731200-224732600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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