Variant report

Variant	rs2357523
Chromosome Location	chr6:119860918-119860919
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:119853131..119855142-chr6:119858626..119860944,2	K562	blood:
2	chr6:119859295..119861022-chr6:119888141..119890185,2	K562	blood:
3	chr6:119857573..119859199-chr6:119859391..119862222,2	MCF-7	breast:
4	chr6:119846705..119849464-chr6:119858071..119861061,2	K562	blood:
5	chr6:119843554..119849464-chr6:119857020..119861311,6	K562	blood:

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs1112369	0.95[ASN][1000 genomes]
rs11153828	0.93[ASN][1000 genomes]
rs12195597	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12199966	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12202672	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12660903	0.98[ASN][1000 genomes]
rs12661049	0.98[ASN][1000 genomes]
rs1288080	0.92[ASN][1000 genomes]
rs1288081	0.92[ASN][1000 genomes]
rs1318271	0.95[ASN][1000 genomes]
rs1341490	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1353864	0.95[ASN][1000 genomes]
rs1392088	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1392090	0.95[ASN][1000 genomes]
rs1499562	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1499566	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1499569	0.95[ASN][1000 genomes]
rs1553171	0.93[ASN][1000 genomes]
rs17081283	0.95[ASN][1000 genomes]
rs17081375	0.98[ASN][1000 genomes]
rs17081423	1.00[CHB][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs1813894	0.84[ASN][1000 genomes]
rs1875056	0.92[ASN][1000 genomes]
rs1963055	0.95[ASN][1000 genomes]
rs2036256	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2066353	0.95[ASN][1000 genomes]
rs2153823	1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs2185752	0.95[ASN][1000 genomes]
rs2185754	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34594936	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3891962	0.89[ASN][1000 genomes]
rs4142250	0.85[ASN][1000 genomes]
rs4142806	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs4551205	0.98[ASN][1000 genomes]
rs4613849	0.98[ASN][1000 genomes]
rs4945640	0.95[ASN][1000 genomes]
rs4945642	0.97[ASN][1000 genomes]
rs4945644	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4946417	0.89[ASN][1000 genomes]
rs4946419	0.92[ASN][1000 genomes]
rs4946420	0.95[ASN][1000 genomes]
rs4946423	0.97[ASN][1000 genomes]
rs4946424	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4946426	0.98[ASN][1000 genomes]
rs4946427	1.00[CHB][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs55901595	0.85[ASN][1000 genomes]
rs56081039	0.98[ASN][1000 genomes]
rs56091753	0.97[ASN][1000 genomes]
rs56346325	0.98[ASN][1000 genomes]
rs6569083	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6913097	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6918211	0.95[ASN][1000 genomes]
rs6923080	0.95[ASN][1000 genomes]
rs6923700	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6935310	0.94[ASN][1000 genomes]
rs6936781	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6940248	0.98[ASN][1000 genomes]
rs742962	0.81[ASN][1000 genomes]
rs7452780	0.98[ASN][1000 genomes]
rs7745025	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]
rs7757317	0.94[CHB][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs904574	0.88[ASN][1000 genomes]
rs9320693	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9320694	1.00[CHB][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs9372541	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9385073	0.95[ASN][1000 genomes]
rs9385076	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9385077	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9387652	0.95[ASN][1000 genomes]
rs9398513	0.84[CEU][hapmap]
rs9398516	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9401151	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9401152	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9481922	0.87[ASN][1000 genomes]
rs9481924	0.89[ASN][1000 genomes]
rs9481927	0.89[ASN][1000 genomes]
rs9481929	0.92[ASN][1000 genomes]
rs9481930	0.92[ASN][1000 genomes]
rs9481931	0.92[ASN][1000 genomes]
rs9481933	0.95[ASN][1000 genomes]
rs9481936	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs9489710	0.86[ASN][1000 genomes]
rs9489714	0.89[ASN][1000 genomes]
rs9489715	0.89[ASN][1000 genomes]
rs9489716	0.89[ASN][1000 genomes]
rs9489717	0.89[ASN][1000 genomes]
rs9489718	0.87[ASN][1000 genomes]
rs9489719	0.92[ASN][1000 genomes]
rs9489720	0.95[ASN][1000 genomes]
rs9489723	0.97[ASN][1000 genomes]
rs9489724	0.97[ASN][1000 genomes]
rs9489725	0.98[ASN][1000 genomes]
rs9489727	0.98[ASN][1000 genomes]
rs9489728	0.98[ASN][1000 genomes]
rs9489729	0.98[ASN][1000 genomes]
rs9489731	0.98[ASN][1000 genomes]
rs9489733	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9885803	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447598	chr6:119558591-120119384	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	esv3389526	chr6:119558598-120190087	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1027904	chr6:119709488-120001986	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv533518	chr6:119712186-119998618	ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3442553	chr6:119742069-120076777	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1018182	chr6:119833609-119866803	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119855200-119861200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr6:119855400-119861600	Weak transcription	Adipose Nuclei	Adipose
3	chr6:119855600-119861200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:119855600-119861600	Weak transcription	NHDF-Ad	bronchial
5	chr6:119856800-119861600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:119856800-119861600	Weak transcription	HMEC	breast
7	chr6:119860600-119861400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:119860600-119861800	ZNF genes & repeats	Fetal Stomach	stomach
9	chr6:119860600-119863000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:119860600-119863000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:119860600-119863400	Enhancers	Rectal Smooth Muscle	rectum
12	chr6:119860800-119861000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin

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