Variant report

Variant	rs45520037
Chromosome Location	chr11:73685268-73685269
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:73683126-73685543	K562	blood:	n/a	n/a
2	POLR2A	chr11:73683045-73687212	GM12892	blood:	n/a	n/a
3	POLR2A	chr11:73684924-73685622	K562	blood:	n/a	n/a
4	HDAC2	chr11:73684978-73685416	MCF-7	breast:	n/a	n/a
5	POLR2A	chr11:73683064-73685810	GM12891	blood:	n/a	n/a
6	TEAD4	chr11:73684960-73685353	K562	blood:	n/a	n/a
7	POLR2A	chr11:73684977-73685772	K562	blood:	n/a	n/a
8	POLR2A	chr11:73679479-73686782	K562	blood:	n/a	n/a
9	POLR2A	chr11:73684836-73685712	GM12892	blood:	n/a	n/a
10	POLR2A	chr11:73680396-73687250	GM12892	blood:	n/a	n/a
11	RUNX3	chr11:73685066-73685279	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:73678522-73695046	PBDE	blood:	n/a	n/a
13	POLR2A	chr11:73682016-73686824	GM12892	blood:	n/a	n/a
14	POLR2A	chr11:73679749-73686894	GM12891	blood:	n/a	n/a
15	POLR2A	chr11:73681127-73686994	K562	blood:	n/a	n/a
16	POLR2A	chr11:73679760-73685825	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:73685051-73685854	GM12878	blood:	n/a	n/a
18	MTA3	chr11:73684883-73685414	GM12878	blood:	n/a	n/a
19	POLR2A	chr11:73684962-73685854	K562	blood:	n/a	n/a
20	POLR2A	chr11:73680903-73685494	SK-N-MC	brain:	n/a	n/a
21	POLR2A	chr11:73685010-73685688	GM12891	blood:	n/a	n/a
22	POLR2A	chr11:73684849-73685909	GM12878	blood:	n/a	n/a
23	POLR2A	chr11:73679439-73686847	GM18505	blood:	n/a	n/a
24	POLR2A	chr11:73684934-73685347	GM12891	blood:	n/a	n/a
25	POLR2A	chr11:73684953-73685270	MCF-7	breast:	n/a	n/a
26	POLR2A	chr11:73684889-73685345	MCF-7	breast:	n/a	n/a
27	POLR2A	chr11:73683035-73687243	GM12878	blood:	n/a	n/a
28	ZNF217	chr11:73685013-73685291	MCF-7	breast:	n/a	n/a
29	POLR2A	chr11:73682871-73685271	HepG2	liver:	n/a	n/a
30	POLR2A	chr11:73684887-73685327	GM12891	blood:	n/a	n/a
31	POLR2A	chr11:73684898-73685641	K562	blood:	n/a	n/a
32	POLR2A	chr11:73685058-73685451	GM12878	blood:	n/a	n/a
33	POLR2A	chr11:73682094-73685515	GM12892	blood:	n/a	n/a
34	POLR2A	chr11:73684963-73686035	HL-60	blood:	n/a	n/a
35	SIN3AK20	chr11:73684807-73685575	MCF-7	breast:	n/a	n/a
36	PML	chr11:73684909-73685644	K562	blood:	n/a	n/a
37	PML	chr11:73684867-73685726	GM12878	blood:	n/a	n/a
38	POLR2A	chr11:73683095-73686851	HL-60	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73684220..73687035-chr11:73766877..73770022,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255847	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs35815449	1.00[AMR][1000 genomes]
rs45453391	1.00[EUR][1000 genomes]
rs45490393	1.00[EUR][1000 genomes]
rs45493400	1.00[EUR][1000 genomes]
rs45504392	1.00[EUR][1000 genomes]
rs45508598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45516095	1.00[EUR][1000 genomes]
rs45526034	1.00[AMR][1000 genomes]
rs45535341	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45537737	1.00[EUR][1000 genomes]
rs45541040	1.00[AMR][1000 genomes]
rs45541732	1.00[EUR][1000 genomes]
rs45565136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45567343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45583331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45585032	1.00[EUR][1000 genomes]
rs45600039	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45626332	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58670711	1.00[EUR][1000 genomes]
rs58950129	1.00[EUR][1000 genomes]
rs60141953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7101416	1.00[AMR][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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73669000-73685800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:73672800-73693200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:73675200-73685400	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr11:73675400-73692600	Weak transcription	Psoas Muscle	Psoas
5	chr11:73675800-73685400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:73675800-73685400	Weak transcription	Fetal Brain Female	brain
7	chr11:73676000-73685400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr11:73676000-73685600	Weak transcription	HepG2	liver
9	chr11:73676000-73686000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:73676000-73686200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr11:73676000-73686200	Weak transcription	Brain Substantia Nigra	brain
12	chr11:73676000-73686400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:73676000-73687400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:73676200-73685400	Weak transcription	Brain Anterior Caudate	brain
15	chr11:73676200-73687600	Weak transcription	Brain Angular Gyrus	brain
16	chr11:73676400-73685400	Weak transcription	Hela-S3	cervix
17	chr11:73676400-73685800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:73676400-73693200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:73676600-73685600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr11:73676600-73691000	Weak transcription	Fetal Heart	heart
21	chr11:73678600-73685400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr11:73678600-73685400	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr11:73678800-73685600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr11:73680000-73686800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:73680400-73685600	Enhancers	Placenta	Placenta
26	chr11:73680800-73685400	Enhancers	K562	blood
27	chr11:73682400-73685600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:73682400-73685600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr11:73682600-73689200	Genic enhancers	Primary B cells from cord blood	blood
30	chr11:73683200-73685400	Weak transcription	Brain Germinal Matrix	brain
31	chr11:73683200-73685600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr11:73683200-73689800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr11:73683200-73690800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:73683400-73685400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:73683400-73685800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:73683400-73689800	Genic enhancers	Thymus	Thymus
37	chr11:73683600-73685400	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr11:73683600-73685600	Enhancers	NHEK	skin
39	chr11:73683600-73688200	Weak transcription	Colon Smooth Muscle	Colon
40	chr11:73683800-73685400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr11:73683800-73685600	Enhancers	Adipose Nuclei	Adipose
42	chr11:73683800-73685600	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr11:73683800-73685600	Enhancers	HMEC	breast
44	chr11:73683800-73685800	Enhancers	Stomach Mucosa	stomach
45	chr11:73683800-73686000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:73683800-73687600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:73684000-73685800	Weak transcription	Pancreas	Pancrea
48	chr11:73684000-73686000	Enhancers	Esophagus	oesophagus
49	chr11:73684000-73686400	Weak transcription	Aorta	Aorta
50	chr11:73684000-73690800	Genic enhancers	Primary B cells from peripheral blood	blood

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