Variant report

Variant	rs1039538
Chromosome Location	chr1:114552157-114552158
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:114546630..114549912-chr1:114550088..114553437,4	MCF-7	breast:
2	chr1:114550074..114553212-chr1:114560226..114563483,4	MCF-7	breast:
3	chr1:114525379..114527622-chr1:114550008..114552290,2	MCF-7	breast:
4	chr1:114551859..114553790-chr1:114563560..114565413,2	MCF-7	breast:
5	chr1:114546364..114550367-chr1:114550390..114555029,5	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12072840	1.00[ASN][1000 genomes]
rs1394074	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35061908	1.00[ASN][1000 genomes]
rs41274108	1.00[ASN][1000 genomes]
rs59099346	1.00[ASN][1000 genomes]
rs61013095	1.00[ASN][1000 genomes]
rs61324555	1.00[ASN][1000 genomes]
rs72988605	1.00[ASN][1000 genomes]
rs72988610	1.00[ASN][1000 genomes]
rs73003971	1.00[ASN][1000 genomes]
rs73003974	1.00[ASN][1000 genomes]
rs73003979	1.00[ASN][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	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv2754686	chr1:114531958-114602958	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114545800-114562600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:114546200-114557600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:114546800-114553600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr1:114546800-114554600	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:114547400-114568600	Weak transcription	Right Atrium	heart
6	chr1:114549800-114552400	Enhancers	H9 Cell Line	embryonic stem cell
7	chr1:114550600-114552600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:114551000-114552400	Enhancers	HSMM	muscle
9	chr1:114551000-114552400	Enhancers	NHEK	skin
10	chr1:114551000-114552600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:114551000-114553200	Enhancers	HSMMtube	muscle
12	chr1:114551400-114552200	Weak transcription	Fetal Kidney	kidney
13	chr1:114551400-114560400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:114551400-114561400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr1:114551600-114552600	Enhancers	NHLF	lung
16	chr1:114551800-114553000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:114551800-114553400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:114551800-114554400	Weak transcription	NHDF-Ad	bronchial
19	chr1:114551800-114556800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:114551800-114561200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr1:114551800-114561600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr1:114552000-114552400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:114552000-114552400	Enhancers	HepG2	liver
24	chr1:114552000-114553200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:114552000-114556600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:114552000-114564400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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