Variant report

Variant	rs1683252
Chromosome Location	chr1:114638714-114638715
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:114638115..114640507-chr1:114642742..114646212,3	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2774282	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2774285	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2774291	0.87[ASN][1000 genomes]
rs654819	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6674121	1.00[JPT][hapmap]

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	esv1849780	chr1:114577463-114663164	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114619200-114640200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:114625400-114639600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr1:114625400-114639800	Weak transcription	Right Atrium	heart
4	chr1:114630400-114675800	Weak transcription	Pancreas	Pancrea
5	chr1:114631400-114638800	Weak transcription	Fetal Brain Female	brain
6	chr1:114632200-114661000	Weak transcription	Brain Germinal Matrix	brain
7	chr1:114633000-114648000	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:114634200-114648400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:114634800-114639600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:114635800-114639000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:114636400-114639800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:114637000-114642400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:114637000-114644200	Weak transcription	Fetal Brain Male	brain
14	chr1:114637400-114646200	Weak transcription	HSMMtube	muscle
15	chr1:114637600-114639800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:114637600-114640600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:114637600-114647000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
18	chr1:114637800-114639000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr1:114637800-114640600	Weak transcription	Fetal Muscle Leg	muscle
20	chr1:114637800-114647400	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:114637800-114647800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:114638000-114646400	Weak transcription	Brain Anterior Caudate	brain
23	chr1:114638000-114647400	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr1:114638200-114639000	Weak transcription	Left Ventricle	heart
25	chr1:114638200-114639400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:114638200-114647200	Strong transcription	H9 Cell Line	embryonic stem cell
27	chr1:114638200-114647400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr1:114638200-114647400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr1:114638200-114647800	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr1:114638400-114639600	Weak transcription	Fetal Lung	lung
31	chr1:114638600-114639400	Enhancers	Fetal Heart	heart

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