Variant report

Variant	rs59101452
Chromosome Location	chr2:11912351-11912352
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:11912328-11912375	MCF-7	breast:	n/a	n/a
2	POLR2A	chr2:11912178-11912392	K562	blood:	n/a	n/a

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
LPIN1	TF binding region
ENSG00000134324	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11886664	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11890221	1.00[EUR][1000 genomes]
rs11895768	1.00[EUR][1000 genomes]
rs16857699	1.00[EUR][1000 genomes]
rs55736020	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56187608	1.00[AMR][1000 genomes]
rs56352405	1.00[EUR][1000 genomes]
rs56820808	1.00[EUR][1000 genomes]
rs57779431	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58686966	1.00[EUR][1000 genomes]
rs59157966	1.00[EUR][1000 genomes]
rs59416046	1.00[EUR][1000 genomes]
rs59836200	1.00[EUR][1000 genomes]
rs61382095	1.00[EUR][1000 genomes]
rs61594850	1.00[AMR][1000 genomes]
rs6745921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73185109	1.00[EUR][1000 genomes]
rs73915564	1.00[AMR][1000 genomes]
rs73917104	1.00[EUR][1000 genomes]
rs73917107	1.00[EUR][1000 genomes]
rs73917124	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73917127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7562399	1.00[EUR][1000 genomes]
rs7602962	1.00[EUR][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:124 , 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	chr2:11900600-11918000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:11901200-11915000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:11901600-11914200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr2:11901800-11914000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr2:11901800-11918600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr2:11902200-11913800	Strong transcription	NHLF	lung
9	chr2:11902800-11912400	Strong transcription	Primary B cells from peripheral blood	blood
10	chr2:11902800-11913800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:11903000-11913600	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr2:11903000-11914200	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr2:11903000-11915000	Strong transcription	NHEK	skin
14	chr2:11903200-11915000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr2:11903400-11914600	Strong transcription	Dnd41	blood
16	chr2:11903800-11913800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:11903800-11914800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:11904000-11914600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr2:11904400-11914800	Strong transcription	Primary B cells from cord blood	blood
20	chr2:11904400-11914800	Strong transcription	Primary T cells from cord blood	blood
21	chr2:11905000-11914200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:11905000-11915400	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr2:11905200-11912600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:11905200-11915000	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr2:11905200-11919000	Weak transcription	Stomach Mucosa	stomach
26	chr2:11905400-11914000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr2:11905400-11914200	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr2:11905400-11914400	Weak transcription	Fetal Heart	heart
29	chr2:11905400-11915600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:11905400-11916600	Strong transcription	Stomach Smooth Muscle	stomach
31	chr2:11905400-11916800	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr2:11905600-11912400	Strong transcription	Liver	Liver
33	chr2:11905600-11914200	Strong transcription	HUVEC	blood vessel
34	chr2:11905600-11914800	Strong transcription	Duodenum Mucosa	Duodenum
35	chr2:11905600-11915000	Strong transcription	Adipose Nuclei	Adipose
36	chr2:11905800-11914200	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr2:11905800-11915200	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr2:11906000-11914000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:11906000-11917400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:11906400-11924600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr2:11906600-11924800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr2:11906800-11924600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr2:11907000-11914000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr2:11907200-11916800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr2:11907400-11914200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:11908000-11913800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr2:11908000-11913800	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr2:11908000-11919000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr2:11908200-11914200	Weak transcription	HSMM	muscle
50	chr2:11908600-11913400	Weak transcription	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links