Variant report

Variant	rs73060161
Chromosome Location	chr1:192603124-192603125
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr1:192602884-192603423	HCT-116	colon:	n/a	chr1:192603246-192603255
2	FOSL1	chr1:192602923-192603418	HCT-116	colon:	n/a	chr1:192603246-192603255

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:192601062..192603438-chr1:192604359..192606960,2	K562	blood:

Variant related genes	Relation type
RGS13	TF binding region
ENSG00000127074	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10921176	1.00[EUR][1000 genomes]
rs4325109	1.00[EUR][1000 genomes]
rs4562598	1.00[EUR][1000 genomes]
rs57851136	1.00[EUR][1000 genomes]
rs60569899	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73060132	1.00[EUR][1000 genomes]
rs73060134	1.00[EUR][1000 genomes]
rs73060137	1.00[EUR][1000 genomes]
rs73060138	1.00[EUR][1000 genomes]
rs73060140	1.00[EUR][1000 genomes]
rs73060146	1.00[EUR][1000 genomes]
rs73060162	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73060163	1.00[EUR][1000 genomes]
rs73060166	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73060168	1.00[AFR][1000 genomes]
rs74130669	1.00[EUR][1000 genomes]
rs7535318	1.00[EUR][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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv467005	chr1:192549912-192625360	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv548659	chr1:192549912-192625360	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192597000-192605600	Enhancers	Fetal Lung	lung
2	chr1:192598800-192603200	Weak transcription	Right Ventricle	heart
3	chr1:192599000-192608200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:192600200-192620400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:192601400-192603200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:192601600-192603200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr1:192601600-192604000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr1:192601600-192607000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:192601800-192603200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:192601800-192604400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:192602000-192604000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:192602400-192603200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr1:192602400-192603200	Enhancers	Psoas Muscle	Psoas
14	chr1:192602400-192603200	Enhancers	Osteobl	bone
15	chr1:192602600-192603200	Weak transcription	HSMMtube	muscle
16	chr1:192602800-192603400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:192602800-192603400	Enhancers	Fetal Heart	heart
18	chr1:192602800-192608200	Weak transcription	Fetal Intestine Large	intestine
19	chr1:192603000-192603400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:192603000-192603400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:192603000-192603400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:192603000-192604200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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