Variant report

Variant	rs2358041
Chromosome Location	chr2:11913245-11913246
allele	C/T
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	chr2:11913060-11913382	K562	blood:	n/a	n/a
2	EP300	chr2:11912906-11915032	SK-N-SH	brain:	n/a	chr2:11912969-11912976

No.	Distal block	Cell Line	Cell type
1	chr2:11906537..11909514-chr2:11912948..11915270,2	MCF-7	breast:
2	chr2:11882438..11884776-chr2:11910789..11914613,4	K562	blood:
3	chr2:11908317..11910694-chr2:11912513..11914915,2	K562	blood:

Variant related genes	Relation type
LPIN1	TF binding region
ENSG00000265056	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1006538	0.98[ASN][1000 genomes]
rs10169802	0.89[ASN][1000 genomes]
rs10192566	0.89[ASN][1000 genomes]
rs10205312	0.99[ASN][1000 genomes]
rs10205400	0.98[ASN][1000 genomes]
rs10207506	0.90[ASN][1000 genomes]
rs10208679	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10209969	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11676086	0.90[ASN][1000 genomes]
rs11693809	0.89[ASN][1000 genomes]
rs11897144	0.92[ASN][1000 genomes]
rs13407101	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13409154	0.90[ASN][1000 genomes]
rs13412852	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1469952	0.94[ASN][1000 genomes]
rs17603420	0.86[ASN][1000 genomes]
rs2099597	0.84[ASN][1000 genomes]
rs2278513	0.94[ASN][1000 genomes]
rs2358042	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2358126	0.85[ASN][1000 genomes]
rs4076055	0.89[ASN][1000 genomes]
rs4129757	0.85[ASN][1000 genomes]
rs4315495	0.90[ASN][1000 genomes]
rs62113306	0.86[ASN][1000 genomes]
rs6717910	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6731096	0.86[ASN][1000 genomes]
rs6757892	0.85[ASN][1000 genomes]
rs72773994	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7561070	0.85[ASN][1000 genomes]
rs7595221	0.95[ASN][1000 genomes]
rs7607755	0.85[ASN][1000 genomes]
rs873358	0.90[ASN][1000 genomes]
rs893342	0.97[ASN][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	chr2:11902800-11913800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:11903000-11913600	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr2:11903000-11914200	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr2:11903000-11915000	Strong transcription	NHEK	skin
13	chr2:11903200-11915000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr2:11903400-11914600	Strong transcription	Dnd41	blood
15	chr2:11903800-11913800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:11903800-11914800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:11904000-11914600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr2:11904400-11914800	Strong transcription	Primary B cells from cord blood	blood
19	chr2:11904400-11914800	Strong transcription	Primary T cells from cord blood	blood
20	chr2:11905000-11914200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr2:11905000-11915400	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr2:11905200-11915000	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr2:11905200-11919000	Weak transcription	Stomach Mucosa	stomach
24	chr2:11905400-11914000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:11905400-11914200	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr2:11905400-11914400	Weak transcription	Fetal Heart	heart
27	chr2:11905400-11915600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:11905400-11916600	Strong transcription	Stomach Smooth Muscle	stomach
29	chr2:11905400-11916800	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr2:11905600-11914200	Strong transcription	HUVEC	blood vessel
31	chr2:11905600-11914800	Strong transcription	Duodenum Mucosa	Duodenum
32	chr2:11905600-11915000	Strong transcription	Adipose Nuclei	Adipose
33	chr2:11905800-11914200	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr2:11905800-11915200	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr2:11906000-11914000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:11906000-11917400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:11906400-11924600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:11906600-11924800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr2:11906800-11924600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr2:11907000-11914000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr2:11907200-11916800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr2:11907400-11914200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:11908000-11913800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr2:11908000-11913800	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr2:11908000-11919000	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr2:11908200-11914200	Weak transcription	HSMM	muscle
47	chr2:11908600-11913400	Weak transcription	Fetal Lung	lung
48	chr2:11908600-11917600	Strong transcription	K562	blood
49	chr2:11909000-11915600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:11909000-11919000	Strong transcription	HMEC	breast

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