Variant report

Variant	rs632862
Chromosome Location	chr11:73693421-73693422
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	chr11:73692165-73694830	GM12892	blood:	n/a	n/a
2	SIN3A	chr11:73693417-73694808	H1-hESC	embryonic stem cell:	n/a	chr11:73694649-73694662 chr11:73694357-73694368
3	MAX	chr11:73692870-73695207	A549	lung:	n/a	chr11:73694793-73694800
4	PML	chr11:73692488-73693446	GM12878	blood:	n/a	n/a
5	YY1	chr11:73693178-73693903	GM12892	blood:	n/a	n/a
6	YY1	chr11:73693234-73693597	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:73692325-73694919	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr11:73690723-73695117	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:73690936-73695497	HL-60	blood:	n/a	n/a
10	POLR2A	chr11:73678522-73695046	PBDE	blood:	n/a	n/a
11	MAX	chr11:73693229-73693488	A549	lung:	n/a	n/a
12	POLR2A	chr11:73690795-73694906	GM12892	blood:	n/a	n/a
13	HMGN3	chr11:73693016-73694804	K562	blood:	n/a	n/a
14	YY1	chr11:73693326-73693486	K562	blood:	n/a	n/a
15	REST	chr11:73693194-73694446	A549	lung:	n/a	chr11:73693786-73693799 chr11:73693989-73694002 chr11:73694249-73694256
16	POLR2A	chr11:73692993-73695103	Hela-S3	cervix:	n/a	n/a
17	E2F6	chr11:73693012-73694982	Hela-S3	cervix:	n/a	chr11:73693859-73693873 chr11:73694561-73694573 chr11:73693905-73693914
18	CEBPB	chr11:73693334-73694654	Hela-S3	cervix:	n/a	n/a
19	RCOR1	chr11:73693170-73695117	IMR90	lung:	n/a	n/a
20	MXI1	chr11:73692694-73695562	SK-N-SH	brain:	n/a	chr11:73692713-73692722
21	MXI1	chr11:73693236-73695153	IMR90	lung:	n/a	n/a
22	SIN3AK20	chr11:73692881-73695146	MCF-7	breast:	n/a	n/a
23	POLR2A	chr11:73687423-73695032	GM12891	blood:	n/a	n/a
24	E2F6	chr11:73693085-73695075	A549	lung:	n/a	chr11:73693859-73693873 chr11:73694561-73694573 chr11:73693905-73693914
25	POLR2A	chr11:73692464-73694897	GM12892	blood:	n/a	n/a
26	POLR2A	chr11:73692592-73695403	K562	blood:	n/a	n/a
27	POLR2A	chr11:73688951-73694645	GM12878	blood:	n/a	n/a
28	POLR2A	chr11:73692322-73695453	Raji	blood:	n/a	n/a
29	SMARCB1	chr11:73692385-73695065	Hela-S3	cervix:	n/a	n/a
30	MTA3	chr11:73690563-73695143	GM12878	blood:	n/a	n/a
31	POLR2A	chr11:73690890-73694865	GM19193	blood:	n/a	n/a
32	POLR2A	chr11:73692455-73693438	HL-60	blood:	n/a	n/a
33	E2F6	chr11:73693005-73695293	H1-hESC	embryonic stem cell:	n/a	chr11:73693859-73693873 chr11:73694561-73694573 chr11:73693905-73693914
34	PAX5	chr11:73693300-73693623	GM12892	blood:	n/a	n/a
35	PAX5	chr11:73693303-73693562	GM12878	blood:	n/a	n/a
36	POLR2A	chr11:73693045-73694963	HepG2	liver:	n/a	n/a
37	MAX	chr11:73692960-73693424	K562	blood:	n/a	n/a
38	JUN	chr11:73692124-73695090	K562	blood:	n/a	chr11:73694560-73694569 chr11:73694434-73694443 chr11:73692450-73692462
39	RCOR1	chr11:73692985-73693436	K562	blood:	n/a	n/a
40	UBTF	chr11:73692334-73695402	K562	blood:	n/a	n/a
41	SIN3A	chr11:73693070-73694802	GM12878	blood:	n/a	chr11:73693143-73693152 chr11:73694649-73694662 chr11:73694357-73694368
42	PAX5	chr11:73693377-73693888	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:73693232..73694230-chr20:47895223..47895801,2	NB4	blood:
2	chr11:73692980..73694641-chr11:73795807..73797869,2	K562	blood:
3	chr11:73692359..73693859-chr11:73914650..73916719,2	K562	blood:
4	chr11:73693398..73694504-chr15:89877365..89878370,3	Hela-S3	cervix:
5	chr11:73692800..73696318-chr11:73880815..73883748,5	MCF-7	breast:
6	chr11:73586614..73588298-chr11:73691679..73694031,2	MCF-7	breast:
7	chr11:73691904..73697409-chr11:73796369..73799985,7	K562	blood:
8	chr11:73693268..73694066-chr6:27100220..27100998,2	Hela-S3	cervix:
9	chr11:73691320..73695538-chr11:73704392..73710067,8	MCF-7	breast:
10	chr11:73693160..73695633-chr11:73711332..73713417,2	K562	blood:
11	chr11:73693159..73695424-chr11:73716966..73719233,2	MCF-7	breast:
12	chr11:73691455..73695821-chr11:73881160..73884452,10	K562	blood:
13	chr11:73661884..73663494-chr11:73691354..73693894,2	MCF-7	breast:
14	chr11:73692520..73695585-chr11:73801085..73803833,3	MCF-7	breast:
15	chr11:73691101..73695528-chr11:73777647..73786599,14	MCF-7	breast:
16	chr11:73692887..73694821-chr11:73796088..73798230,2	MCF-7	breast:
17	chr11:73692678..73695547-chr11:74458881..74460384,2	K562	blood:
18	chr11:73584965..73587189-chr11:73691735..73694698,2	K562	blood:
19	chr11:73587462..73590069-chr11:73692817..73694652,2	K562	blood:
20	chr11:73690232..73696227-chr11:73800984..73805427,5	MCF-7	breast:
21	chr11:73692196..73693796-chr11:73888424..73890180,2	MCF-7	breast:
22	chr11:73691754..73696567-chr11:73778152..73784121,11	MCF-7	breast:
23	chr11:73690208..73697157-chr11:73720249..73724103,9	K562	blood:

Variant related genes	Relation type
UCP2	TF binding region
ENSG00000256723	Chromatin interaction
ENSG00000209042	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000166439	Chromatin interaction
ENSG00000214517	Chromatin interaction
ENSG00000168014	Chromatin interaction
ENSG00000175564	Chromatin interaction
ENSG00000261441	Chromatin interaction
ENSG00000140521	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000175575	Chromatin interaction
ENSG00000187726	Chromatin interaction
ENSG00000181924	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs3019463	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34408426	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs586773	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs591758	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs599277	0.88[ASN][1000 genomes]
rs603950	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs605442	0.81[ASN][1000 genomes]
rs621976	0.92[ASN][1000 genomes]
rs653529	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs655717	0.88[ASN][1000 genomes]
rs659366	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs660339	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs673494	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs675547	0.91[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs632862	UCP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73688000-73693800	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
2	chr11:73688400-73694400	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
3	chr11:73690800-73693800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr11:73691000-73693800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
5	chr11:73691200-73693600	Weak transcription	Aorta	Aorta
6	chr11:73691400-73693600	Weak transcription	HMEC	breast
7	chr11:73691600-73693800	Flanking Active TSS	Colonic Mucosa	Colon
8	chr11:73691800-73695000	Active TSS	Colon Smooth Muscle	Colon
9	chr11:73692000-73694600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:73692000-73694600	Active TSS	Fetal Intestine Large	intestine
11	chr11:73692200-73693600	Enhancers	Fetal Brain Male	brain
12	chr11:73692200-73693800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
13	chr11:73692200-73694600	Active TSS	Primary T cells from cord blood	blood
14	chr11:73692200-73694600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
15	chr11:73692200-73694800	Active TSS	Brain Hippocampus Middle	brain
16	chr11:73692200-73695000	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr11:73692200-73695000	Active TSS	Fetal Kidney	kidney
18	chr11:73692400-73694400	Active TSS	Sigmoid Colon	Sigmoid Colon
19	chr11:73692400-73694600	Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr11:73692400-73694600	Active TSS	HSMM	muscle
21	chr11:73692400-73694800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:73692400-73694800	Active TSS	Small Intestine	intestine
23	chr11:73692400-73695200	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr11:73692600-73693800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr11:73692600-73693800	Active TSS	Right Atrium	heart
26	chr11:73692600-73694000	Active TSS	Liver	Liver
27	chr11:73692600-73694400	Active TSS	Fetal Lung	lung
28	chr11:73692600-73694400	Active TSS	GM12878-XiMat	blood
29	chr11:73692600-73694600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr11:73692600-73694600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr11:73692600-73694800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr11:73692600-73694800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:73692600-73694800	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr11:73692600-73694800	Active TSS	HSMMtube	muscle
35	chr11:73692600-73695000	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr11:73692600-73695000	Active TSS	Esophagus	oesophagus
37	chr11:73692800-73693800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:73692800-73693800	Flanking Active TSS	Placenta	Placenta
39	chr11:73692800-73693800	Flanking Active TSS	HepG2	liver
40	chr11:73692800-73694400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:73692800-73694400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr11:73692800-73694400	Active TSS	Primary T cells fromperipheralblood	blood
43	chr11:73692800-73694400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
44	chr11:73692800-73694600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr11:73692800-73694600	Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr11:73692800-73694600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:73692800-73694600	Active TSS	Fetal Intestine Small	intestine
48	chr11:73692800-73694600	Active TSS	A549	lung
49	chr11:73692800-73694800	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr11:73692800-73694800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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