Variant report

Variant	rs2200614
Chromosome Location	chr11:73690663-73690664
allele	A/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	chr11:73690192-73690685	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:73678522-73695046	PBDE	blood:	n/a	n/a
3	POLR2A	chr11:73687423-73695032	GM12891	blood:	n/a	n/a
4	POLR2A	chr11:73688951-73694645	GM12878	blood:	n/a	n/a
5	MTA3	chr11:73690563-73695143	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:73688307-73693000	GM12892	blood:	n/a	n/a
7	POLR2A	chr11:73687383-73690753	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:73689346..73691741-chr11:73844746..73846281,2	MCF-7	breast:
2	chr11:73690232..73696227-chr11:73800984..73805427,5	MCF-7	breast:
3	chr11:73690208..73697157-chr11:73720249..73724103,9	K562	blood:

Variant related genes	Relation type
UCP2	TF binding region
ENSG00000168014	Chromatin interaction
ENSG00000175564	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11235964	0.87[ASN][1000 genomes]
rs17132517	0.80[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2306817	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2306818	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2306819	0.95[ASN][1000 genomes]
rs2306820	0.95[ASN][1000 genomes]
rs3816824	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4944871	0.94[ASN][1000 genomes]
rs56007494	0.95[ASN][1000 genomes]
rs56282097	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58125455	0.95[ASN][1000 genomes]
rs72982970	0.95[ASN][1000 genomes]
rs72982971	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72982975	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72982981	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[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	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	esv1827060	chr11:73670645-73694754	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv520299	chr11:73684294-73694754	Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2200614	UCP2	Cis_1M	lymphoblastoid	RTeQTL
rs2200614	RP11-167N4.4	cis	Thyroid	GTEx

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73672800-73693200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:73675400-73692600	Weak transcription	Psoas Muscle	Psoas
3	chr11:73676400-73693200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:73676600-73691000	Weak transcription	Fetal Heart	heart
5	chr11:73683200-73690800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr11:73684000-73690800	Genic enhancers	Primary B cells from peripheral blood	blood
7	chr11:73684000-73691000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr11:73684000-73691000	Weak transcription	HUVEC	blood vessel
9	chr11:73684200-73691000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:73684400-73691200	Strong transcription	Fetal Stomach	stomach
11	chr11:73684600-73690800	Genic enhancers	Primary monocytes fromperipheralblood	blood
12	chr11:73684800-73692600	Weak transcription	Right Atrium	heart
13	chr11:73685000-73690800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:73685000-73691000	Strong transcription	H9 Cell Line	embryonic stem cell
15	chr11:73685000-73691000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr11:73685000-73691200	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr11:73685000-73691200	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr11:73685000-73691400	Genic enhancers	Fetal Muscle Leg	muscle
19	chr11:73685000-73691600	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr11:73685000-73693000	Weak transcription	NHDF-Ad	bronchial
21	chr11:73685200-73691000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:73685200-73691000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr11:73685200-73692200	Weak transcription	Small Intestine	intestine
24	chr11:73685400-73690800	Strong transcription	A549	lung
25	chr11:73685400-73690800	Genic enhancers	K562	blood
26	chr11:73685400-73691000	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr11:73685400-73691200	Strong transcription	Stomach Smooth Muscle	stomach
28	chr11:73685600-73691000	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr11:73685600-73691000	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr11:73685600-73691000	Strong transcription	HepG2	liver
31	chr11:73685600-73691000	Weak transcription	HMEC	breast
32	chr11:73685600-73691000	Weak transcription	NHEK	skin
33	chr11:73685600-73691200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:73685600-73691200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:73685600-73693000	Weak transcription	NHLF	lung
36	chr11:73685800-73691000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:73685800-73691000	Strong transcription	Gastric	stomach
38	chr11:73685800-73691200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:73685800-73691200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr11:73686000-73692400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:73686600-73693000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:73687000-73693000	Weak transcription	NH-A	brain
43	chr11:73687200-73693000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr11:73687600-73691200	Genic enhancers	Dnd41	blood
45	chr11:73687600-73691800	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
46	chr11:73688000-73693400	Weak transcription	Brain Angular Gyrus	brain
47	chr11:73688000-73693800	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
48	chr11:73688200-73691000	Genic enhancers	Adipose Nuclei	Adipose
49	chr11:73688200-73691400	Weak transcription	Fetal Lung	lung
50	chr11:73688400-73690800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood

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