Variant report

Variant	rs73483218
Chromosome Location	chr11:59894563-59894564
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs35033981	1.00[AMR][1000 genomes]
rs59036106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59586266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73479087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73479093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73479095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73483221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7940080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7949515	1.00[AFR][1000 genomes];1.00[AMR][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	nsv832173	chr11:59788884-59940560	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv468579	chr11:59814287-59975400	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv555150	chr11:59814287-59975400	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr11:59879400-59897600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:59892400-59897800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr11:59892600-59895600	Enhancers	HMEC	breast
4	chr11:59892600-59899200	Weak transcription	Fetal Intestine Large	intestine
5	chr11:59892800-59895400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:59892800-59896400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:59893000-59894600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr11:59893000-59894600	Weak transcription	Ovary	ovary
9	chr11:59893000-59894600	Weak transcription	Small Intestine	intestine
10	chr11:59893000-59894600	Weak transcription	K562	blood
11	chr11:59893200-59895800	Enhancers	Fetal Intestine Small	intestine
12	chr11:59893200-59897800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr11:59893600-59894600	Weak transcription	Hela-S3	cervix
14	chr11:59893600-59894800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:59893800-59899400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr11:59894000-59895000	Weak transcription	HUVEC	blood vessel
17	chr11:59894000-59897400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr11:59894200-59894600	Weak transcription	HepG2	liver
19	chr11:59894200-59895400	Enhancers	NHEK	skin
20	chr11:59894400-59895400	Enhancers	Stomach Mucosa	stomach
21	chr11:59894400-59896000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:59894400-59896200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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