Variant report

Variant	rs530699
Chromosome Location	chr11:73916694-73916695
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73897247..73899992-chr11:73915831..73918707,2	K562	blood:
2	chr11:73692359..73693859-chr11:73914650..73916719,2	K562	blood:
3	chr11:73912839..73914764-chr11:73915918..73918461,3	K562	blood:
4	chr11:73912839..73914764-chr11:73916300..73918461,2	K562	blood:
5	chr11:73909031..73911408-chr11:73914439..73916958,2	K562	blood:
6	chr11:73899942..73902342-chr11:73915012..73916803,2	K562	blood:

Variant related genes	Relation type
ENSG00000200649	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11235978	1.00[YRI][hapmap]
rs11236004	0.82[ASN][1000 genomes]
rs11236006	0.87[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.80[YRI][hapmap];0.81[ASN][1000 genomes]
rs11236008	0.87[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs11236028	0.84[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs11825568	0.80[CHB][hapmap];0.93[JPT][hapmap]
rs1291934	0.95[ASN][1000 genomes]
rs1941820	0.90[CHB][hapmap];0.80[JPT][hapmap]
rs2848557	0.84[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3018185	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4522190	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs471539	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs475326	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4944880	0.90[CHB][hapmap];0.93[JPT][hapmap]
rs500435	0.82[ASN][1000 genomes]
rs542628	0.90[CHB][hapmap];0.80[JPT][hapmap]
rs544356	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs555964	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs562488	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs58006161	0.84[ASN][1000 genomes]
rs60647229	0.82[ASN][1000 genomes]
rs699142	0.89[CHB][hapmap]
rs72984885	0.94[AFR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72984886	0.94[AFR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7925988	0.87[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.84[ASN][1000 genomes]
rs7930356	0.88[EUR][1000 genomes]
rs826054	0.90[CHB][hapmap];0.93[JPT][hapmap]
rs826057	0.90[CHB][hapmap];0.80[JPT][hapmap]
rs826058	0.90[CHB][hapmap];0.80[JPT][hapmap]
rs866650	0.80[CHB][hapmap];0.93[JPT][hapmap]
rs869616	0.87[CEU][hapmap];0.80[CHB][hapmap];0.93[JPT][hapmap];0.80[YRI][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv522994	chr11:73906924-73917190	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs530699	UCP2	Cis_1M	lymphoblastoid	RTeQTL
rs530699	UCP2	cis	multi-tissue	Pritchard

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73883600-73921000	Weak transcription	Esophagus	oesophagus
2	chr11:73883600-73923200	Weak transcription	Aorta	Aorta
3	chr11:73883800-73920000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:73883800-73923200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr11:73884200-73917600	Weak transcription	Ovary	ovary
6	chr11:73884200-73920200	Weak transcription	Thymus	Thymus
7	chr11:73884200-73941200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr11:73884200-73941800	Weak transcription	Small Intestine	intestine
9	chr11:73885600-73920200	Weak transcription	Colon Smooth Muscle	Colon
10	chr11:73885600-73920600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:73885600-73925600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr11:73885600-73957000	Weak transcription	Fetal Brain Male	brain
13	chr11:73885800-73942400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr11:73891200-73920200	Weak transcription	Brain Angular Gyrus	brain
15	chr11:73891400-73918400	Weak transcription	Osteobl	bone
16	chr11:73891400-73919800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr11:73891400-73924000	Weak transcription	Brain Hippocampus Middle	brain
18	chr11:73894000-73921600	Weak transcription	Pancreas	Pancrea
19	chr11:73897200-73918800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:73897200-73937600	Weak transcription	Fetal Heart	heart
21	chr11:73897600-73923200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr11:73897600-73923400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr11:73901000-73920200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr11:73901600-73938000	Weak transcription	Psoas Muscle	Psoas
25	chr11:73902200-73936200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr11:73902400-73918600	Weak transcription	Lung	lung
27	chr11:73902600-73920400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr11:73902600-73941200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr11:73903000-73918800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:73903000-73920200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:73903000-73923400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr11:73903000-73923400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr11:73903200-73917600	Weak transcription	Fetal Muscle Leg	muscle
34	chr11:73903200-73918000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr11:73903200-73918600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:73903200-73918800	Weak transcription	Fetal Stomach	stomach
37	chr11:73903200-73919800	Weak transcription	Brain Germinal Matrix	brain
38	chr11:73903800-73923200	Weak transcription	Gastric	stomach
39	chr11:73903800-73923600	Weak transcription	Right Ventricle	heart
40	chr11:73905200-73941800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:73907400-73941200	Weak transcription	NHDF-Ad	bronchial
42	chr11:73907400-73969200	Weak transcription	HUVEC	blood vessel
43	chr11:73907800-73919800	Weak transcription	Fetal Lung	lung
44	chr11:73908200-73921400	Weak transcription	NHEK	skin
45	chr11:73909400-73928200	Strong transcription	HSMM	muscle
46	chr11:73910000-73917600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:73911000-73923000	Weak transcription	Fetal Intestine Small	intestine
48	chr11:73912200-73920400	Weak transcription	Fetal Kidney	kidney
49	chr11:73913200-73923200	Weak transcription	Brain Substantia Nigra	brain
50	chr11:73913200-73941200	Weak transcription	H1 Cell Line	embryonic stem cell

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