Variant report

Variant	rs60936647
Chromosome Location	chr1:226714594-226714595
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226706839..226711450-chr1:226711635..226715756,5	MCF-7	breast:
2	chr1:226706806..226709403-chr1:226713996..226717525,3	K562	blood:
3	chr1:226714260..226716672-chr1:226718970..226720868,2	MCF-7	breast:
4	chr1:226706806..226710150-chr1:226713996..226716471,3	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs57093755	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60718314	0.96[AFR][1000 genomes]
rs73095702	0.93[AFR][1000 genomes]
rs73096940	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73096942	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74141924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7555496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832781	chr1:226570901-226750697	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226708000-226717600	Weak transcription	Right Atrium	heart
2	chr1:226710400-226714600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:226712600-226717800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:226714000-226714800	Enhancers	Fetal Heart	heart
5	chr1:226714200-226714600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr1:226714200-226714600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr1:226714200-226715000	Enhancers	H1 Cell Line	embryonic stem cell
8	chr1:226714200-226715400	Enhancers	Fetal Muscle Leg	muscle
9	chr1:226714200-226715400	Enhancers	Right Ventricle	heart
10	chr1:226714400-226714600	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr1:226714400-226714600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr1:226714400-226714600	Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr1:226714400-226714800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:226714400-226714800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr1:226714400-226714800	Enhancers	Primary B cells from peripheral blood	blood
16	chr1:226714400-226714800	Active TSS	Pancreas	Pancrea
17	chr1:226714400-226714800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr1:226714400-226714800	Enhancers	Stomach Mucosa	stomach
19	chr1:226714400-226714800	Enhancers	Hela-S3	cervix
20	chr1:226714400-226715000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr1:226714400-226715000	Active TSS	Ovary	ovary
22	chr1:226714400-226715000	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr1:226714400-226715000	Active TSS	K562	blood
24	chr1:226714400-226715200	Enhancers	Left Ventricle	heart

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