Variant report

Variant	rs650740
Chromosome Location	chr1:70599620-70599621
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	chr1:70597641..70600279-chr1:70669633..70672162,2	MCF-7	breast:
2	chr1:70597842..70600180-chr1:70601599..70604524,2	K562	blood:

Variant related genes	Relation type
ENSG00000116754	Chromatin interaction
ENSG00000066557	Chromatin interaction
ENSG00000033122	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10493468	0.84[CEU][hapmap]
rs17131236	0.82[CHB][hapmap]
rs3753818	0.82[CHB][hapmap]
rs587562	0.82[CHB][hapmap];0.81[AMR][1000 genomes]
rs616511	0.83[CEU][hapmap]
rs621996	0.82[CHB][hapmap]
rs633346	0.84[CEU][hapmap]
rs636429	0.81[AMR][1000 genomes]
rs6424382	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs659181	0.84[CEU][hapmap]
rs661765	0.81[CEU][hapmap]
rs6664709	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6666941	0.82[CHB][hapmap]
rs674706	0.83[CEU][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	nsv531879	chr1:70386455-70644617	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1005397	chr1:70598803-70634585	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70596800-70609200	Weak transcription	Liver	Liver
2	chr1:70598400-70601200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr1:70598800-70599800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:70598800-70600200	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr1:70598800-70600200	Enhancers	NHLF	lung
6	chr1:70598800-70601200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr1:70599000-70600400	Enhancers	H1 Cell Line	embryonic stem cell
8	chr1:70599000-70600400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:70599000-70600400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr1:70599000-70606000	Weak transcription	Osteobl	bone
11	chr1:70599000-70606600	Weak transcription	K562	blood
12	chr1:70599000-70609600	Weak transcription	GM12878-XiMat	blood
13	chr1:70599200-70600000	Weak transcription	Hela-S3	cervix
14	chr1:70599200-70600200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr1:70599200-70600400	Enhancers	NHDF-Ad	bronchial
16	chr1:70599400-70600200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:70599400-70600400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:70599400-70601200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr1:70599600-70599800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:70599600-70600000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:70599600-70600200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr1:70599600-70600400	Enhancers	Fetal Brain Female	brain
23	chr1:70599600-70600400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr1:70599600-70600600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:70599600-70600600	Enhancers	Brain Germinal Matrix	brain
26	chr1:70599600-70600600	Enhancers	Fetal Heart	heart
27	chr1:70599600-70601000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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