Variant report

Variant	rs1934410
Chromosome Location	chr1:180521764-180521765
allele	A/C
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:180518213..180520300-chr1:180521624..180524471,2	K562	blood:
2	chr1:180514007..180517933-chr1:180519953..180524083,4	K562	blood:
3	chr1:180513229..180515531-chr1:180521057..180523264,2	MCF-7	breast:
4	chr1:180521347..180523149-chr1:180523872..180526102,2	K562	blood:
5	chr1:180519806..180522795-chr1:180523226..180525284,2	MCF-7	breast:
6	chr1:180520523..180523289-chr1:180525357..180527506,2	K562	blood:
7	chr1:180498180..180501073-chr1:180520862..180523498,2	MCF-7	breast:
8	chr1:180520741..180525768-chr1:180529838..180532812,4	MCF-7	breast:
9	chr1:180520662..180524325-chr1:180527806..180530510,3	K562	blood:
10	chr1:180516263..180518210-chr1:180520202..180523252,4	K562	blood:

No data

No data

No data

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10753216	0.82[EUR][1000 genomes]
rs10798775	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10914018	0.82[EUR][1000 genomes]
rs10914023	0.87[EUR][1000 genomes]
rs10914028	0.93[EUR][1000 genomes]
rs12024201	0.89[EUR][1000 genomes]
rs12136111	0.87[EUR][1000 genomes]
rs12565492	0.82[EUR][1000 genomes]
rs1538622	0.93[EUR][1000 genomes]
rs7540276	0.89[EUR][1000 genomes]
rs7543366	0.89[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	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180510400-180529400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:180516600-180536800	Weak transcription	Psoas Muscle	Psoas
3	chr1:180517600-180523200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:180518400-180522600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr1:180521000-180521800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:180521000-180521800	Enhancers	K562	blood
7	chr1:180521200-180521800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:180521200-180521800	Enhancers	Right Atrium	heart
9	chr1:180521200-180521800	Enhancers	Right Ventricle	heart
10	chr1:180521200-180522000	Enhancers	HSMMtube	muscle
11	chr1:180521200-180522200	Enhancers	Fetal Heart	heart
12	chr1:180521400-180525400	Weak transcription	Left Ventricle	heart

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

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