Variant report

Variant	rs673494
Chromosome Location	chr11:73682509-73682510
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:86)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:86 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:73682252-73682792	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr11:73682221-73682899	K562	blood:	n/a	n/a
3	POLR2A	chr11:73682251-73682830	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr11:73682085-73682994	GM12892	blood:	n/a	n/a
5	POLR2A	chr11:73682238-73682776	A549	lung:	n/a	n/a
6	NFIC	chr11:73682191-73682669	GM12878	blood:	n/a	n/a
7	PML	chr11:73682220-73682819	K562	blood:	n/a	n/a
8	POLR2A	chr11:73682209-73682718	SK-N-MC	brain:	n/a	n/a
9	POLR2A	chr11:73682304-73682782	MCF-7	breast:	n/a	n/a
10	POLR2A	chr11:73679479-73686782	K562	blood:	n/a	n/a
11	POLR2A	chr11:73680621-73683005	PANC-1	pancreas:	n/a	n/a
12	NFATC1	chr11:73682105-73682948	GM12878	blood:	n/a	chr11:73682766-73682779
13	POLR2A	chr11:73680396-73687250	GM12892	blood:	n/a	n/a
14	POLR2A	chr11:73682052-73682828	A549	lung:	n/a	n/a
15	POLR2A	chr11:73682025-73682947	PANC-1	pancreas:	n/a	n/a
16	STAT5A	chr11:73682110-73683002	GM12878	blood:	n/a	n/a
17	MAX	chr11:73682445-73682573	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:73678522-73695046	PBDE	blood:	n/a	n/a
19	POLR2A	chr11:73682016-73686824	GM12892	blood:	n/a	n/a
20	POLR2A	chr11:73679749-73686894	GM12891	blood:	n/a	n/a
21	POLR2A	chr11:73682119-73684741	GM18526	blood:	n/a	n/a
22	POLR2A	chr11:73680627-73684733	Raji	blood:	n/a	n/a
23	POLR2A	chr11:73682332-73682653	HepG2	liver:	n/a	n/a
24	POLR2A	chr11:73682050-73682928	GM12891	blood:	n/a	n/a
25	POLR2A	chr11:73681127-73686994	K562	blood:	n/a	n/a
26	POLR2A	chr11:73679760-73685825	GM12878	blood:	n/a	n/a
27	POLR2A	chr11:73682126-73682973	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr11:73679570-73684863	K562	blood:	n/a	n/a
29	CHD2	chr11:73682417-73682617	GM12878	blood:	n/a	n/a
30	POLR2A	chr11:73682146-73682872	GM12891	blood:	n/a	n/a
31	POLR2A	chr11:73682158-73682878	ECC-1	luminal epithelium:	n/a	n/a
32	PML	chr11:73682099-73682997	GM12878	blood:	n/a	n/a
33	CCNT2	chr11:73682404-73682566	K562	blood:	n/a	n/a
34	ELF1	chr11:73682151-73682961	GM12878	blood:	n/a	n/a
35	POLR2A	chr11:73682146-73684701	K562	blood:	n/a	n/a
36	ATF2	chr11:73682343-73682802	GM12878	blood:	n/a	n/a
37	PML	chr11:73682256-73682756	GM12878	blood:	n/a	n/a
38	POLR2A	chr11:73682189-73682984	HL-60	blood:	n/a	n/a
39	POLR2A	chr11:73682093-73682898	GM12891	blood:	n/a	n/a
40	POLR2A	chr11:73682202-73682912	GM18951	blood:	n/a	n/a
41	POLR2A	chr11:73682225-73682752	A549	lung:	n/a	n/a
42	POLR2A	chr11:73682157-73682688	ECC-1	luminal epithelium:	n/a	n/a
43	POLR2A	chr11:73682105-73682791	MCF-7	breast:	n/a	n/a
44	POLR2A	chr11:73682245-73682850	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr11:73680903-73685494	SK-N-MC	brain:	n/a	n/a
46	POLR2A	chr11:73682410-73682753	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr11:73682085-73682987	GM12878	blood:	n/a	n/a
48	POLR2A	chr11:73682225-73682838	GM12891	blood:	n/a	n/a
49	POLR2A	chr11:73679439-73686847	GM18505	blood:	n/a	n/a
50	POLR2A	chr11:73682040-73682879	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:73681943..73683569-chr11:73889681..73892326,2	K562	blood:
2	chr11:73681646..73684288-chr11:73745260..73748147,2	MCF-7	breast:
3	chr11:73681017..73683540-chr11:75108485..75110869,2	MCF-7	breast:
4	chr11:73679005..73682645-chr11:73778281..73782136,5	MCF-7	breast:
5	chr11:73679561..73684546-chr11:73778723..73783416,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255847	TF binding region
ENSG00000168014	Chromatin interaction
ENSG00000149273	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1685355	0.90[CHB][hapmap]
rs1726745	0.85[CHB][hapmap]
rs2075577	0.80[CHB][hapmap]
rs3019463	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34408426	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs586773	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs588097	0.85[CHB][hapmap]
rs591758	0.80[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs599277	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs603950	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs605442	0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs621976	0.89[ASN][1000 genomes]
rs632862	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs635441	0.85[CHB][hapmap]
rs647126	0.85[CHB][hapmap]
rs653529	0.80[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs655717	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs659366	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs660339	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs675547	0.88[ASN][1000 genomes]
rs7926165	0.90[CHB][hapmap]

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	esv1001380	chr11:73680052-73684451	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs673494	UCP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73669000-73685800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:73672800-73684200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:73672800-73684800	Weak transcription	HSMM	muscle
4	chr11:73672800-73693200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr11:73674000-73685000	Weak transcription	Brain Hippocampus Middle	brain
6	chr11:73674600-73684200	Weak transcription	Right Atrium	heart
7	chr11:73675200-73684400	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr11:73675200-73685400	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr11:73675400-73692600	Weak transcription	Psoas Muscle	Psoas
10	chr11:73675800-73683800	Weak transcription	GM12878-XiMat	blood
11	chr11:73675800-73685400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr11:73675800-73685400	Weak transcription	Fetal Brain Female	brain
13	chr11:73676000-73684200	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr11:73676000-73684200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr11:73676000-73684400	Enhancers	Primary T cells fromperipheralblood	blood
16	chr11:73676000-73685000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr11:73676000-73685400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr11:73676000-73685600	Weak transcription	HepG2	liver
19	chr11:73676000-73686000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:73676000-73686200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr11:73676000-73686200	Weak transcription	Brain Substantia Nigra	brain
22	chr11:73676000-73686400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr11:73676000-73687400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:73676200-73682600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:73676200-73685000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr11:73676200-73685000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:73676200-73685200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr11:73676200-73685400	Weak transcription	Brain Anterior Caudate	brain
29	chr11:73676200-73687600	Weak transcription	Brain Angular Gyrus	brain
30	chr11:73676400-73685400	Weak transcription	Hela-S3	cervix
31	chr11:73676400-73685800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:73676400-73693200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:73676600-73684600	Weak transcription	A549	lung
34	chr11:73676600-73684800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr11:73676600-73685200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:73676600-73685200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr11:73676600-73685600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr11:73676600-73691000	Weak transcription	Fetal Heart	heart
39	chr11:73678200-73685200	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr11:73678200-73685200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr11:73678600-73685000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr11:73678600-73685400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr11:73678600-73685400	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr11:73678800-73685200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr11:73678800-73685600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr11:73679000-73682600	Enhancers	Primary B cells from cord blood	blood
47	chr11:73679000-73683200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr11:73679000-73684000	Enhancers	Primary B cells from peripheral blood	blood
49	chr11:73679400-73684600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr11:73679600-73683400	Weak transcription	Lung	lung

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