Variant report

Variant	rs4604727
Chromosome Location	chr1:172090738-172090739
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:172089171..172091236-chr1:172092321..172095263,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10442603	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10797736	0.87[CHB][hapmap];0.85[ASN][1000 genomes]
rs10797791	0.94[CEU][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes]
rs10910945	0.94[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs10911101	0.94[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10911109	0.94[CEU][hapmap];0.92[EUR][1000 genomes]
rs10911110	0.94[CEU][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10911111	0.83[CEU][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10911112	0.94[CEU][hapmap];0.93[EUR][1000 genomes]
rs10911116	0.94[CEU][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10911121	0.89[CEU][hapmap]
rs10911124	0.89[CEU][hapmap];0.90[JPT][hapmap]
rs10911125	0.89[CEU][hapmap];0.90[JPT][hapmap]
rs12047492	0.94[CEU][hapmap];0.95[EUR][1000 genomes]
rs12117623	0.87[ASN][1000 genomes]
rs12119190	1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs12120556	0.94[CEU][hapmap];0.92[EUR][1000 genomes]
rs12141278	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1475230	0.89[CEU][hapmap];0.90[JPT][hapmap]
rs1475231	0.89[CEU][hapmap];0.91[JPT][hapmap]
rs2146901	0.94[CEU][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes]
rs2181624	0.94[CEU][hapmap];0.93[EUR][1000 genomes]
rs2421986	0.94[EUR][1000 genomes]
rs2421987	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6413836	0.87[ASN][1000 genomes]
rs72719073	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs72719075	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7519823	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532342	chr1:171922237-172133785	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172049400-172110800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:172052400-172091600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:172062400-172109200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:172069200-172102000	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:172077000-172096000	Weak transcription	Brain Substantia Nigra	brain
6	chr1:172077200-172110600	Weak transcription	Brain Angular Gyrus	brain
7	chr1:172077400-172099400	Weak transcription	Fetal Brain Female	brain
8	chr1:172085600-172097000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:172085800-172113400	Weak transcription	Pancreas	Pancrea
10	chr1:172087200-172093800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:172087400-172091400	Weak transcription	NHEK	skin
12	chr1:172089600-172090800	Enhancers	Colon Smooth Muscle	Colon
13	chr1:172089600-172090800	Enhancers	Fetal Kidney	kidney
14	chr1:172089600-172090800	Enhancers	Ovary	ovary
15	chr1:172089600-172091000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr1:172089800-172090800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:172090000-172109600	Weak transcription	Brain Germinal Matrix	brain
18	chr1:172090400-172090800	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr1:172090400-172092800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:172090400-172108800	Weak transcription	Fetal Stomach	stomach

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