Variant report

Variant	rs6694743
Chromosome Location	chr1:160918547-160918548
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	chr1:160915728..160918562-chr1:160922253..160924481,2	K562	blood:
2	chr1:160916194..160918562-chr1:160922783..160924481,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10908813	0.84[EUR][1000 genomes]
rs11587040	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12080285	0.87[EUR][1000 genomes]
rs12125065	0.82[EUR][1000 genomes]
rs12740520	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1855186	0.83[EUR][1000 genomes]
rs1930598	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2184064	0.83[EUR][1000 genomes]
rs3953093	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3953095	0.82[EUR][1000 genomes]
rs4129196	0.81[EUR][1000 genomes]
rs4656277	0.82[EUR][1000 genomes]
rs4656282	0.81[AMR][1000 genomes]
rs6427559	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6674437	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]

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	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	esv3430322	chr1:160851829-160920480	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160905800-160919800	Weak transcription	Right Atrium	heart
2	chr1:160911800-160920800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:160915400-160918800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:160915600-160918800	Weak transcription	Hela-S3	cervix
5	chr1:160915600-160919400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:160916000-160919000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:160916400-160920600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:160916600-160920400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr1:160916600-160921800	Enhancers	Fetal Intestine Large	intestine
10	chr1:160916800-160919600	Weak transcription	HMEC	breast
11	chr1:160916800-160923800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:160917000-160918600	Weak transcription	K562	blood
13	chr1:160917600-160919000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:160917600-160921800	Enhancers	A549	lung
15	chr1:160917800-160918600	Enhancers	Primary T cells fromperipheralblood	blood
16	chr1:160917800-160919200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:160918000-160919400	Weak transcription	Fetal Heart	heart
18	chr1:160918000-160919600	Weak transcription	NHEK	skin
19	chr1:160918000-160921400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:160918000-160923800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr1:160918200-160919600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:160918200-160919600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:160918200-160919800	Weak transcription	Ovary	ovary
24	chr1:160918200-160921000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr1:160918200-160921200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr1:160918200-160923800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr1:160918400-160919000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr1:160918400-160919000	ZNF genes & repeats	Fetal Intestine Small	intestine
29	chr1:160918400-160919400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:160918400-160921600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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