Variant report

Variant	rs59949256
Chromosome Location	chr1:186804948-186804949
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	chr1:186793156..186795805-chr1:186804858..186807640,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs5274	1.00[AMR][1000 genomes]
rs56306057	0.84[AFR][1000 genomes]
rs74137516	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74137517	1.00[AMR][1000 genomes]
rs74137518	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74137519	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74137520	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74137521	0.92[AFR][1000 genomes];1.00[AMR][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	esv2762854	chr1:186547101-186847574	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv872590	chr1:186557453-187500338	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186798600-186807000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:186799200-186807000	Weak transcription	Stomach Mucosa	stomach
3	chr1:186799400-186807400	Weak transcription	A549	lung
4	chr1:186799400-186810600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:186799600-186806200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr1:186799600-186807000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:186800200-186827800	Weak transcription	NHEK	skin
8	chr1:186800600-186805200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:186800600-186806000	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr1:186800600-186806800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr1:186800600-186807000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:186800600-186807000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:186800800-186807000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:186801000-186806200	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr1:186801000-186806200	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr1:186801000-186818400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:186802200-186805000	Enhancers	Hela-S3	cervix
18	chr1:186802400-186807000	Weak transcription	Small Intestine	intestine
19	chr1:186803800-186805800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr1:186804200-186807000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr1:186804600-186807600	Weak transcription	Colon Smooth Muscle	Colon

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