Variant report

Variant	rs56263305
Chromosome Location	chr2:11498775-11498776
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11493192..11494740-chr2:11496741..11499584,2	K562	blood:
2	chr2:11483743..11487223-chr2:11496291..11499577,4	K562	blood:
3	chr2:11483149..11486489-chr2:11497401..11501170,3	MCF-7	breast:
4	chr2:11498130..11500885-chr2:11501118..11503134,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134318	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs57404216	0.91[AFR][1000 genomes]
rs57861284	0.83[AFR][1000 genomes]
rs58258043	0.83[AFR][1000 genomes]
rs59194382	0.83[AFR][1000 genomes]
rs59211791	0.83[AFR][1000 genomes]
rs59258577	1.00[AMR][1000 genomes]
rs59266229	0.83[AFR][1000 genomes]
rs61452244	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6738785	1.00[AMR][1000 genomes]
rs73915161	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73915164	0.83[AFR][1000 genomes]
rs73915165	0.83[AFR][1000 genomes]
rs73915170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73915172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73915173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7586803	0.83[AFR][1000 genomes]
rs7591028	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7596587	1.00[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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 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	chr2:11492600-11500600	Enhancers	Fetal Intestine Large	intestine
2	chr2:11494800-11498800	Enhancers	Fetal Muscle Leg	muscle
3	chr2:11494800-11498800	Enhancers	Placenta	Placenta
4	chr2:11495400-11499600	Weak transcription	Stomach Mucosa	stomach
5	chr2:11495600-11500000	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr2:11496600-11498800	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr2:11497400-11500000	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr2:11497600-11507400	Weak transcription	Fetal Brain Female	brain
9	chr2:11497800-11499400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:11497800-11499400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:11498000-11498800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:11498000-11504400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr2:11498200-11499600	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:11498200-11499600	Weak transcription	Fetal Lung	lung
15	chr2:11498200-11502000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:11498200-11505200	Weak transcription	Spleen	Spleen
17	chr2:11498200-11505400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:11498200-11505400	Weak transcription	Liver	Liver
19	chr2:11498200-11505600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:11498200-11507400	Weak transcription	Small Intestine	intestine
21	chr2:11498200-11508000	Weak transcription	Right Atrium	heart
22	chr2:11498400-11499400	Weak transcription	Adipose Nuclei	Adipose
23	chr2:11498400-11499400	Weak transcription	Fetal Intestine Small	intestine
24	chr2:11498400-11499600	Enhancers	HepG2	liver

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