Variant report

Variant	rs710145
Chromosome Location	chr1:192796240-192796241
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	chr1:192783714..192785248-chr1:192795090..192796972,2	K562	blood:
2	chr1:192777758..192779737-chr1:192794166..192797131,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116741	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1070909	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1152746	0.84[CEU][hapmap];0.87[CHB][hapmap];0.90[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1231726	0.97[EUR][1000 genomes]
rs1231727	0.88[EUR][1000 genomes]
rs1231728	0.97[EUR][1000 genomes]
rs1231729	0.90[EUR][1000 genomes]
rs1231730	0.81[EUR][1000 genomes]
rs1231731	0.81[EUR][1000 genomes]
rs1231732	0.81[EUR][1000 genomes]
rs1231733	0.81[EUR][1000 genomes]
rs1231734	0.81[EUR][1000 genomes]
rs1231735	0.90[EUR][1000 genomes]
rs1231736	0.81[EUR][1000 genomes]
rs1231737	0.88[EUR][1000 genomes]
rs1231738	0.97[EUR][1000 genomes]
rs1231739	0.88[EUR][1000 genomes]
rs1231740	0.88[EUR][1000 genomes]
rs1231741	0.88[EUR][1000 genomes]
rs1231742	0.88[EUR][1000 genomes]
rs1231744	0.84[EUR][1000 genomes]
rs1231746	0.89[EUR][1000 genomes]
rs1231747	0.89[EUR][1000 genomes]
rs1231749	0.89[EUR][1000 genomes]
rs1231750	0.80[EUR][1000 genomes]
rs1231751	0.89[EUR][1000 genomes]
rs1231754	0.88[EUR][1000 genomes]
rs1231757	0.83[EUR][1000 genomes]
rs1231758	0.83[EUR][1000 genomes]
rs1231759	0.92[EUR][1000 genomes]
rs1231760	0.92[EUR][1000 genomes]
rs1231762	0.90[EUR][1000 genomes]
rs1231763	0.82[EUR][1000 genomes]
rs1231764	0.97[GIH][hapmap];0.82[EUR][1000 genomes]
rs1231765	0.82[EUR][1000 genomes]
rs1231766	0.90[EUR][1000 genomes]
rs1231767	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1234722	0.80[EUR][1000 genomes]
rs1234723	0.92[EUR][1000 genomes]
rs1237767	0.87[EUR][1000 genomes]
rs12733094	0.87[EUR][1000 genomes]
rs12756953	0.84[EUR][1000 genomes]
rs1535034	0.82[EUR][1000 genomes]
rs16834948	0.86[EUR][1000 genomes]
rs17590238	0.86[EUR][1000 genomes]
rs1890973	0.86[EUR][1000 genomes]
rs2473740	0.80[EUR][1000 genomes]
rs2473741	0.87[EUR][1000 genomes]
rs2473742	0.87[EUR][1000 genomes]
rs2473744	0.90[EUR][1000 genomes]
rs2473745	0.90[EUR][1000 genomes]
rs2487284	0.90[EUR][1000 genomes]
rs2487286	0.85[EUR][1000 genomes]
rs2487288	0.80[EUR][1000 genomes]
rs2746068	0.89[EUR][1000 genomes]
rs2797395	0.80[EUR][1000 genomes]
rs34120198	0.85[EUR][1000 genomes]
rs34732347	0.85[EUR][1000 genomes]
rs34838432	0.86[EUR][1000 genomes]
rs34867585	0.85[EUR][1000 genomes]
rs35997646	0.86[EUR][1000 genomes]
rs36005848	0.85[EUR][1000 genomes]
rs4332340	0.86[EUR][1000 genomes]
rs4658075	0.86[EUR][1000 genomes]
rs56155184	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58739396	0.85[EUR][1000 genomes]
rs60382150	0.86[EUR][1000 genomes]
rs6686024	0.86[EUR][1000 genomes]
rs6692203	0.87[EUR][1000 genomes]
rs710142	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs710144	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs710146	1.00[CEU][hapmap];0.87[CHB][hapmap];0.94[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.97[TSI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs842922	0.88[EUR][1000 genomes]
rs842923	0.88[EUR][1000 genomes]
rs842924	0.87[EUR][1000 genomes]
rs844529	0.87[EUR][1000 genomes]
rs859888	0.87[EUR][1000 genomes]
rs859890	0.88[EUR][1000 genomes]
rs863604	0.97[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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192781400-192803400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:192794400-192796600	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr1:192795000-192796600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr1:192795000-192797400	Enhancers	Hela-S3	cervix
5	chr1:192795200-192796400	Enhancers	NH-A	brain
6	chr1:192795200-192796600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr1:192795200-192796600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr1:192795200-192796600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr1:192795400-192796400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:192795400-192796600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr1:192795400-192796600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr1:192795400-192796800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr1:192795400-192797000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:192795400-192797000	Enhancers	Osteobl	bone
15	chr1:192795400-192797400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:192795400-192797800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:192795400-192809000	Weak transcription	Placenta	Placenta
18	chr1:192795600-192796600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr1:192795600-192796800	Enhancers	NHEK	skin
20	chr1:192795600-192797400	Weak transcription	Aorta	Aorta
21	chr1:192795800-192796600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:192795800-192796600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:192795800-192796600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:192795800-192796800	Enhancers	HMEC	breast
25	chr1:192795800-192799800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr1:192796000-192796400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:192796000-192796600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:192796000-192796800	Flanking Active TSS	HUVEC	blood vessel
29	chr1:192796200-192796800	Flanking Active TSS	A549	lung
30	chr1:192796200-192800200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr1:192796200-192803400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:192796200-192807000	Weak transcription	H9 Cell Line	embryonic stem cell

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