Variant report

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226249105..226251739-chr1:226280324..226283853,3	K562	blood:
2	chr1:226280725..226282904-chr1:226296101..226298427,2	MCF-7	breast:
3	chr1:226199148..226201886-chr1:226278380..226281272,2	K562	blood:
4	chr1:226248891..226251543-chr1:226280324..226282713,4	K562	blood:
5	chr1:226280306..226283507-chr1:226285698..226289497,4	K562	blood:
6	chr1:226278938..226281494-chr1:226297746..226299953,3	MCF-7	breast:
7	chr1:226278286..226279796-chr1:226279889..226282591,2	K562	blood:
8	chr1:226269153..226271287-chr1:226280169..226282555,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272562	Chromatin interaction
ENSG00000163041	Chromatin interaction

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10753412	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10915943	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs73083551	0.86[AMR][1000 genomes]
rs73083553	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv873232	chr1:226242772-226375267	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
3	esv1792510	chr1:226277560-226323824	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 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	chr1:226271800-226286200	Weak transcription	Ovary	ovary
2	chr1:226271800-226288000	Weak transcription	Right Atrium	heart
3	chr1:226271800-226288400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:226272000-226281000	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:226272000-226282200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr1:226272000-226285400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:226272000-226287800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:226272000-226288200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:226277400-226284000	Weak transcription	NHEK	skin
10	chr1:226278800-226287600	Weak transcription	Brain Anterior Caudate	brain
11	chr1:226279000-226281200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:226280400-226281200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:226280400-226281400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:226280400-226281800	Enhancers	Fetal Stomach	stomach
15	chr1:226280600-226281200	Enhancers	Osteobl	bone
16	chr1:226280600-226281400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:226280800-226281000	Enhancers	HSMM	muscle
18	chr1:226280800-226281200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr1:226280800-226281400	Enhancers	K562	blood
20	chr1:226280800-226281600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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