Variant report

Variant	rs7557248
Chromosome Location	chr2:10416343-10416344
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10416266..10418182-chr2:10522791..10524644,2	K562	blood:
2	chr2:10416195..10418762-chr2:10425700..10428798,3	MCF-7	breast:
3	chr2:10412656..10415128-chr2:10415819..10419038,3	K562	blood:
4	chr2:10415260..10418941-chr2:10419729..10423831,6	MCF-7	breast:
5	chr2:10411031..10415128-chr2:10415819..10419718,6	K562	blood:

Variant related genes	Relation type
ENSG00000264030	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1819824	1.00[AMR][1000 genomes]
rs56051947	1.00[EUR][1000 genomes]
rs57235279	1.00[AMR][1000 genomes]
rs60655797	1.00[AMR][1000 genomes]
rs73914011	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv873639	chr2:10372061-10475308	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv873640	chr2:10385097-10422342	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2762357	chr2:10401309-10426323	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr2:10410200-10418600	Enhancers	K562	blood
2	chr2:10411200-10418400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:10411400-10416600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:10411400-10417000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr2:10411800-10417000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr2:10411800-10417800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:10411800-10417800	Weak transcription	Right Atrium	heart
8	chr2:10411800-10418200	Weak transcription	Colonic Mucosa	Colon
9	chr2:10412000-10417400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr2:10412000-10417600	Weak transcription	Right Ventricle	heart
11	chr2:10412000-10418000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:10412000-10423000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:10412200-10416400	Weak transcription	Liver	Liver
14	chr2:10412400-10422200	Weak transcription	Hela-S3	cervix
15	chr2:10412600-10416800	Weak transcription	Pancreas	Pancrea
16	chr2:10413000-10417400	Weak transcription	Fetal Intestine Large	intestine
17	chr2:10413000-10417600	Weak transcription	Lung	lung
18	chr2:10413600-10417000	Weak transcription	Fetal Intestine Small	intestine
19	chr2:10414000-10416600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:10414200-10417400	Weak transcription	Gastric	stomach
21	chr2:10415400-10417000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:10416000-10417200	Weak transcription	Spleen	Spleen
23	chr2:10416200-10416600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:10416200-10416600	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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