Variant report

Variant	rs56049564
Chromosome Location	chr2:172648680-172648681
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172648009..172650848-chr2:172967323..172968978,2	MCF-7	breast:
2	chr2:172637502..172642511-chr2:172648363..172652969,5	K562	blood:

Variant related genes	Relation type
ENSG00000115844	Chromatin interaction
ENSG00000236651	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17499544	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17499593	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55681218	0.89[ASN][1000 genomes]
rs62181740	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62181741	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62181743	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62182368	0.90[ASN][1000 genomes]
rs62182401	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62182404	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72881959	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834457	chr2:172564939-172770901	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172603000-172688400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:172610200-172651400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:172635400-172654800	Weak transcription	A549	lung
4	chr2:172635600-172654600	Weak transcription	Liver	Liver
5	chr2:172636800-172654800	Weak transcription	Small Intestine	intestine
6	chr2:172638000-172650200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:172638600-172650600	Strong transcription	Stomach Smooth Muscle	stomach
8	chr2:172638800-172650400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr2:172638800-172650800	Strong transcription	Primary T cells from cord blood	blood
10	chr2:172638800-172650800	Strong transcription	Duodenum Smooth Muscle	Duodenum
11	chr2:172638800-172651000	Strong transcription	Dnd41	blood
12	chr2:172639200-172650200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr2:172639200-172650800	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr2:172639800-172650200	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr2:172639800-172650600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr2:172640000-172650400	Strong transcription	Fetal Muscle Trunk	muscle
17	chr2:172640000-172650400	Strong transcription	Fetal Thymus	thymus
18	chr2:172640000-172651400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:172640200-172648800	Strong transcription	GM12878-XiMat	blood
20	chr2:172640200-172650400	Strong transcription	Skeletal Muscle Male	skeletal muscle
21	chr2:172640200-172650600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:172640200-172651000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr2:172640200-172662800	Weak transcription	Fetal Brain Male	brain
24	chr2:172640400-172668000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr2:172640600-172650600	Strong transcription	Left Ventricle	heart
26	chr2:172641000-172648800	Strong transcription	Thymus	Thymus
27	chr2:172641000-172650400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr2:172641000-172650400	Strong transcription	Fetal Stomach	stomach
29	chr2:172641600-172666400	Weak transcription	Fetal Kidney	kidney
30	chr2:172642000-172649800	Weak transcription	HMEC	breast
31	chr2:172642200-172651400	Weak transcription	Fetal Heart	heart
32	chr2:172642200-172651400	Weak transcription	Fetal Intestine Large	intestine
33	chr2:172642200-172654000	Weak transcription	HUVEC	blood vessel
34	chr2:172642200-172654600	Weak transcription	NHEK	skin
35	chr2:172642200-172654800	Weak transcription	HSMM	muscle
36	chr2:172642200-172663600	Weak transcription	K562	blood
37	chr2:172642200-172665800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr2:172642400-172688400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr2:172643600-172687800	Weak transcription	Hela-S3	cervix
40	chr2:172643800-172674600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr2:172644000-172650400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:172644000-172667000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr2:172644200-172649800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:172644200-172666600	Weak transcription	Placenta	Placenta
45	chr2:172644400-172649000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:172644400-172654800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:172644400-172655000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:172644400-172655000	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr2:172644400-172656000	Weak transcription	Aorta	Aorta
50	chr2:172644400-172666000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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