Variant report

Variant	rs1474417
Chromosome Location	chr11:73496138-73496139
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	ZNF384	chr11:73495175-73496446	K562	blood:	n/a	n/a
2	POLR2A	chr11:73496065-73496436	HCT-116	colon:	n/a	n/a
3	RFX5	chr11:73495308-73496187	Hela-S3	cervix:	n/a	n/a
4	TBL1XR1	chr11:73494540-73496311	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73469206..73473775-chr11:73494297..73499248,5	K562	blood:
2	chr11:73466132..73474322-chr11:73488493..73499248,27	K562	blood:

Variant related genes	Relation type
MRPL48	TF binding region
ENSG00000175582	Chromatin interaction
ENSG00000256034	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11235841	0.85[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap]
rs11235880	0.95[YRI][hapmap]
rs11235911	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11235918	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11235928	0.91[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11235950	0.83[AMR][1000 genomes]
rs11235951	0.92[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap]
rs12225286	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12277859	0.81[ASN][1000 genomes]
rs12576616	0.90[YRI][hapmap]
rs1670536	0.90[ASN][1000 genomes]
rs1792163	0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3758932	0.82[EUR][1000 genomes]
rs3758933	0.82[EUR][1000 genomes]
rs56307666	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5792633	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57974546	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59187119	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60164255	0.80[AMR][1000 genomes]
rs623653	0.82[JPT][hapmap]
rs66465726	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs667350	0.81[JPT][hapmap]
rs670811	0.82[JPT][hapmap]
rs7104794	0.92[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7130191	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72976851	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72976884	0.90[ASN][1000 genomes]
rs72989216	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72989220	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72989224	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72989263	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7924705	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7931143	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7937366	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[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	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	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
3	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	esv3426251	chr11:73461503-73538032	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1474417	UCP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73491000-73498400	Weak transcription	Esophagus	oesophagus
2	chr11:73491000-73498600	Weak transcription	Aorta	Aorta
3	chr11:73491200-73497800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:73491200-73498000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr11:73491200-73498000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:73491200-73498000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr11:73491200-73498000	Weak transcription	A549	lung
8	chr11:73491200-73498000	Weak transcription	HSMM	muscle
9	chr11:73491200-73498200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:73491200-73498200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr11:73491200-73498400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:73491200-73498400	Weak transcription	Thymus	Thymus
13	chr11:73491200-73498600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr11:73491400-73498200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr11:73491400-73498200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr11:73491400-73498200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:73491400-73498200	Weak transcription	Adipose Nuclei	Adipose
18	chr11:73491400-73498400	Weak transcription	Primary T cells from cord blood	blood
19	chr11:73491400-73498400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr11:73491800-73498000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:73494400-73496600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr11:73494800-73496600	Enhancers	Hela-S3	cervix
23	chr11:73494800-73497000	Enhancers	K562	blood
24	chr11:73494800-73497800	Enhancers	Dnd41	blood
25	chr11:73495000-73496200	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr11:73495200-73496400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr11:73495200-73496600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr11:73495400-73497800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr11:73495400-73498200	Weak transcription	Fetal Intestine Small	intestine
30	chr11:73495400-73498400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr11:73495600-73496600	Enhancers	HepG2	liver
32	chr11:73495600-73498200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr11:73495600-73498200	Weak transcription	Fetal Intestine Large	intestine
34	chr11:73495600-73498400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr11:73495600-73498400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:73495600-73498400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr11:73495800-73497400	Weak transcription	Fetal Thymus	thymus
38	chr11:73495800-73498200	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr11:73496000-73496400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr11:73496000-73497800	Weak transcription	NHEK	skin
41	chr11:73496000-73498200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr11:73496000-73498400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr11:73496000-73498400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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