Variant report

Variant	rs45516095
Chromosome Location	chr11:73689936-73689937
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PML	chr11:73689677-73690181	K562	blood:	n/a	n/a
2	POLR2A	chr11:73678522-73695046	PBDE	blood:	n/a	n/a
3	POLR2A	chr11:73688405-73689940	K562	blood:	n/a	n/a
4	POLR2A	chr11:73689571-73690290	K562	blood:	n/a	n/a
5	POLR2A	chr11:73689233-73690304	K562	blood:	n/a	n/a
6	POLR2A	chr11:73688311-73690429	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:73687451-73690362	K562	blood:	n/a	n/a
8	POLR2A	chr11:73688166-73690420	GM12892	blood:	n/a	n/a
9	POLR2A	chr11:73687423-73695032	GM12891	blood:	n/a	n/a
10	POLR2A	chr11:73688980-73690277	K562	blood:	n/a	n/a
11	POLR2A	chr11:73689689-73690245	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:73688307-73690385	HL-60	blood:	n/a	n/a
13	POLR2A	chr11:73688951-73694645	GM12878	blood:	n/a	n/a
14	POLR2A	chr11:73689590-73690205	SK-N-MC	brain:	n/a	n/a
15	POLR2A	chr11:73689496-73690243	GM12891	blood:	n/a	n/a
16	POLR2A	chr11:73688307-73693000	GM12892	blood:	n/a	n/a
17	POLR2A	chr11:73687516-73690467	K562	blood:	n/a	n/a
18	POLR2A	chr11:73687383-73690753	GM12892	blood:	n/a	n/a
19	POLR2A	chr11:73687509-73690180	GM18505	blood:	n/a	n/a
20	POLR2A	chr11:73689489-73690121	GM12891	blood:	n/a	n/a
21	POLR2A	chr11:73687349-73690362	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73689346..73691741-chr11:73844746..73846281,2	MCF-7	breast:
2	chr11:73586922..73589181-chr11:73687473..73690308,2	K562	blood:

No data

Variant related genes	Relation type
UCP2	TF binding region
ENSG00000181924	Chromatin interaction
ENSG00000175575	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs45453391	1.00[EUR][1000 genomes]
rs45490393	1.00[EUR][1000 genomes]
rs45493400	1.00[EUR][1000 genomes]
rs45504392	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs45508598	1.00[EUR][1000 genomes]
rs45520037	1.00[EUR][1000 genomes]
rs45537737	1.00[EUR][1000 genomes]
rs45541732	1.00[EUR][1000 genomes]
rs45565136	1.00[EUR][1000 genomes]
rs45567343	1.00[EUR][1000 genomes]
rs45583331	1.00[EUR][1000 genomes]
rs45585032	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs45600039	1.00[EUR][1000 genomes]
rs45626332	1.00[EUR][1000 genomes]
rs58670711	1.00[EUR][1000 genomes]
rs58950129	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60141953	1.00[EUR][1000 genomes]
rs73555983	1.00[EUR][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

No data

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	chr11:73684200-73690000	Genic enhancers	Fetal Thymus	thymus
10	chr11:73684200-73691000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:73684400-73690400	Strong transcription	Fetal Intestine Small	intestine
12	chr11:73684400-73690600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr11:73684400-73691200	Strong transcription	Fetal Stomach	stomach
14	chr11:73684600-73690800	Genic enhancers	Primary monocytes fromperipheralblood	blood
15	chr11:73684800-73692600	Weak transcription	Right Atrium	heart
16	chr11:73685000-73690200	Strong transcription	Brain Hippocampus Middle	brain
17	chr11:73685000-73690800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:73685000-73691000	Strong transcription	H9 Cell Line	embryonic stem cell
19	chr11:73685000-73691000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr11:73685000-73691200	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr11:73685000-73691200	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr11:73685000-73691400	Genic enhancers	Fetal Muscle Leg	muscle
23	chr11:73685000-73691600	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr11:73685000-73693000	Weak transcription	NHDF-Ad	bronchial
25	chr11:73685200-73690000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
26	chr11:73685200-73690200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:73685200-73691000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:73685200-73691000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr11:73685200-73692200	Weak transcription	Small Intestine	intestine
30	chr11:73685400-73690000	Strong transcription	Brain Germinal Matrix	brain
31	chr11:73685400-73690000	Strong transcription	Fetal Intestine Large	intestine
32	chr11:73685400-73690200	Strong transcription	Brain Anterior Caudate	brain
33	chr11:73685400-73690400	Strong transcription	Fetal Brain Female	brain
34	chr11:73685400-73690800	Strong transcription	A549	lung
35	chr11:73685400-73690800	Genic enhancers	K562	blood
36	chr11:73685400-73691000	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr11:73685400-73691200	Strong transcription	Stomach Smooth Muscle	stomach
38	chr11:73685600-73690000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:73685600-73690000	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr11:73685600-73691000	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr11:73685600-73691000	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr11:73685600-73691000	Strong transcription	HepG2	liver
43	chr11:73685600-73691000	Weak transcription	HMEC	breast
44	chr11:73685600-73691000	Weak transcription	NHEK	skin
45	chr11:73685600-73691200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr11:73685600-73691200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:73685600-73693000	Weak transcription	NHLF	lung
48	chr11:73685800-73690000	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr11:73685800-73691000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:73685800-73691000	Strong transcription	Gastric	stomach

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