Variant report

Variant	rs12735634
Chromosome Location	chr1:224244796-224244797
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224240269..224242100-chr1:224243386..224246178,2	K562	blood:
2	chr1:223958981..223961667-chr1:224244026..224246906,2	K562	blood:
3	chr1:224238624..224240170-chr1:224243287..224246232,2	K562	blood:
4	chr1:223886897..223889669-chr1:224243550..224246462,2	K562	blood:
5	chr1:224239914..224241769-chr1:224243528..224246178,2	K562	blood:
6	chr1:224233477..224236319-chr1:224241343..224244947,3	K562	blood:
7	chr1:224244471..224246198-chr1:224247592..224249226,2	K562	blood:

No data

No data

No data

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11588064	0.90[EUR][1000 genomes]
rs12724486	0.89[EUR][1000 genomes]
rs12724894	0.88[EUR][1000 genomes]
rs12725098	0.89[EUR][1000 genomes]
rs12750755	0.84[EUR][1000 genomes]
rs34354383	0.90[EUR][1000 genomes]
rs34479169	0.88[EUR][1000 genomes]
rs34705766	0.90[EUR][1000 genomes]
rs35773430	0.88[EUR][1000 genomes]
rs35928515	0.91[EUR][1000 genomes]
rs35986184	0.89[EUR][1000 genomes]
rs36067040	0.82[EUR][1000 genomes]
rs61823345	0.88[EUR][1000 genomes]
rs61823347	0.89[EUR][1000 genomes]
rs6667626	0.91[EUR][1000 genomes]
rs6691643	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv427941	chr1:224085052-224363163	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv832692	chr1:224206536-224407717	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224241000-224245000	Weak transcription	NHEK	skin
2	chr1:224241000-224245200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:224241000-224245400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:224241000-224245400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:224241000-224245400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:224241200-224245000	Weak transcription	HMEC	breast
7	chr1:224241200-224245400	Weak transcription	HSMM	muscle
8	chr1:224241200-224245400	Weak transcription	NH-A	brain
9	chr1:224241200-224245600	Weak transcription	NHDF-Ad	bronchial
10	chr1:224241400-224245000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr1:224241800-224245000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:224241800-224245600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:224242000-224245200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:224242600-224244800	Weak transcription	HUVEC	blood vessel
15	chr1:224244400-224245600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:224244400-224247000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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