Variant report

Variant	rs61594850
Chromosome Location	chr2:11910901-11910902
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	chr2:11882438..11884776-chr2:11910789..11914613,4	K562	blood:
2	chr2:11910547..11912358-chr2:11916238..11917990,2	K562	blood:

Variant related genes	Relation type
ENSG00000134324	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11886664	1.00[AMR][1000 genomes]
rs55736020	0.83[AMR][1000 genomes]
rs56187608	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57779431	1.00[AMR][1000 genomes]
rs59101452	1.00[AMR][1000 genomes]
rs6745921	1.00[AMR][1000 genomes]
rs73915564	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73917124	1.00[AMR][1000 genomes]
rs73917127	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11888400-11916400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:11895000-11918200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:11899200-11911200	Weak transcription	Small Intestine	intestine
4	chr2:11900600-11918000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:11900800-11912200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:11901200-11915000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:11901600-11914200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:11901800-11914000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr2:11901800-11918600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr2:11902200-11913800	Strong transcription	NHLF	lung
11	chr2:11902800-11912200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:11902800-11912400	Strong transcription	Primary B cells from peripheral blood	blood
13	chr2:11902800-11913800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:11903000-11913600	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr2:11903000-11914200	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr2:11903000-11915000	Strong transcription	NHEK	skin
17	chr2:11903200-11915000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:11903400-11914600	Strong transcription	Dnd41	blood
19	chr2:11903600-11911600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:11903800-11913800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr2:11903800-11914800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:11904000-11914600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr2:11904400-11914800	Strong transcription	Primary B cells from cord blood	blood
24	chr2:11904400-11914800	Strong transcription	Primary T cells from cord blood	blood
25	chr2:11905000-11914200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr2:11905000-11915400	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr2:11905200-11912600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:11905200-11915000	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:11905200-11919000	Weak transcription	Stomach Mucosa	stomach
30	chr2:11905400-11914000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr2:11905400-11914200	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr2:11905400-11914400	Weak transcription	Fetal Heart	heart
33	chr2:11905400-11915600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:11905400-11916600	Strong transcription	Stomach Smooth Muscle	stomach
35	chr2:11905400-11916800	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr2:11905600-11912200	Strong transcription	NHDF-Ad	bronchial
37	chr2:11905600-11912400	Strong transcription	Liver	Liver
38	chr2:11905600-11914200	Strong transcription	HUVEC	blood vessel
39	chr2:11905600-11914800	Strong transcription	Duodenum Mucosa	Duodenum
40	chr2:11905600-11915000	Strong transcription	Adipose Nuclei	Adipose
41	chr2:11905800-11912200	Strong transcription	Left Ventricle	heart
42	chr2:11905800-11914200	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr2:11905800-11915200	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr2:11906000-11911800	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr2:11906000-11914000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:11906000-11917400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:11906400-11924600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr2:11906600-11924800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr2:11906800-11911400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr2:11906800-11911600	Weak transcription	Colonic Mucosa	Colon

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