Variant report

Variant	rs59249575
Chromosome Location	chr2:11578795-11578796
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11573792..11575740-chr2:11578673..11581004,4	MCF-7	breast:
2	chr2:11576851..11579417-chr2:11587308..11589140,2	K562	blood:
3	chr2:11578661..11580841-chr2:11582473..11584908,4	MCF-7	breast:
4	chr2:11577658..11579278-chr2:11581177..11582920,2	K562	blood:
5	chr2:11271803..11274218-chr2:11577731..11580499,2	MCF-7	breast:
6	chr2:11577706..11579337-chr2:11680101..11681639,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264010	Chromatin interaction
ENSG00000150873	Chromatin interaction
ENSG00000145063	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs56273175	1.00[AMR][1000 genomes]
rs56867623	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60752334	0.95[AFR][1000 genomes]
rs61213947	1.00[AMR][1000 genomes]
rs73180159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73185427	0.95[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:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11546600-11584200	Weak transcription	Pancreas	Pancrea
2	chr2:11560400-11584000	Weak transcription	Aorta	Aorta
3	chr2:11561200-11579200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:11562800-11582400	Weak transcription	Left Ventricle	heart
5	chr2:11563000-11583800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:11563000-11586800	Weak transcription	Psoas Muscle	Psoas
7	chr2:11563400-11581600	Weak transcription	Adipose Nuclei	Adipose
8	chr2:11564200-11580000	Weak transcription	Ovary	ovary
9	chr2:11569600-11581800	Weak transcription	HepG2	liver
10	chr2:11571200-11582600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr2:11571200-11582800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr2:11571400-11580000	Weak transcription	HSMMtube	muscle
13	chr2:11571400-11581800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:11571600-11580000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:11571800-11581600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:11572400-11580000	Weak transcription	Gastric	stomach
17	chr2:11572400-11583800	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:11572600-11588600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr2:11573200-11580000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:11573800-11582000	Strong transcription	A549	lung
21	chr2:11574000-11581800	Weak transcription	Brain Hippocampus Middle	brain
22	chr2:11574000-11582400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:11574200-11583000	Weak transcription	K562	blood
24	chr2:11574600-11581800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:11574800-11580000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr2:11575000-11578800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:11575000-11584800	Weak transcription	Esophagus	oesophagus
28	chr2:11575200-11578800	Weak transcription	Fetal Intestine Small	intestine
29	chr2:11575200-11581800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr2:11575200-11584000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr2:11575400-11583800	Weak transcription	Osteobl	bone
32	chr2:11575600-11581600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr2:11575600-11583200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr2:11575600-11584000	Weak transcription	Right Ventricle	heart
35	chr2:11575600-11586800	Weak transcription	NHEK	skin
36	chr2:11575800-11584000	Weak transcription	HMEC	breast
37	chr2:11575800-11597000	Weak transcription	Fetal Heart	heart
38	chr2:11576000-11586800	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr2:11576200-11581600	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr2:11576400-11578800	Strong transcription	Fetal Stomach	stomach
41	chr2:11576400-11582600	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr2:11576400-11583800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr2:11576600-11579800	Weak transcription	Primary T cells from cord blood	blood
44	chr2:11576600-11586600	Weak transcription	Brain Substantia Nigra	brain
45	chr2:11576800-11578800	Strong transcription	Dnd41	blood
46	chr2:11576800-11580000	Weak transcription	Fetal Intestine Large	intestine
47	chr2:11576800-11580200	Weak transcription	Brain Angular Gyrus	brain
48	chr2:11576800-11583600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr2:11576800-11585000	Weak transcription	Hela-S3	cervix
50	chr2:11576800-11586600	Weak transcription	Rectal Smooth Muscle	rectum

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