Variant report

Variant	rs73537523
Chromosome Location	chr11:71792663-71792664
allele	A/C
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	STAT3	chr11:71792584-71792784	MCF10A-Er-Src	breast:	n/a	n/a
2	HCFC1	chr11:71789401-71793053	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr11:71790689-71793835	MCF10A-Er-Src	breast:	n/a	n/a
4	RFX5	chr11:71789843-71792994	SK-N-SH	brain:	n/a	chr11:71791859-71791873 chr11:71791862-71791871 chr11:71791858-71791873 chr11:71791625-71791634
5	JUN	chr11:71790512-71793070	K562	blood:	n/a	chr11:71791624-71791633 chr11:71791316-71791325 chr11:71791317-71791326 chr11:71791315-71791324 chr11:71791313-71791322 chr11:71791314-71791323
6	MAZ	chr11:71790510-71792709	IMR90	lung:	n/a	chr11:71791862-71791871 chr11:71791321-71791331 chr11:71791604-71791614
7	SIN3AK20	chr11:71790601-71793609	MCF-7	breast:	n/a	n/a
8	POLR2A	chr11:71792387-71793463	MCF-7	breast:	n/a	n/a
9	TBL1XR1	chr11:71792625-71792756	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:71780787..71782950-chr11:71789834..71792937,3	MCF-7	breast:
2	chr11:71707937..71711570-chr11:71790035..71793811,3	K562	blood:
3	chr11:71743810..71760160-chr11:71777190..71805714,79	MCF-7	breast:
4	chr11:71735278..71739296-chr11:71791106..71793307,3	MCF-7	breast:
5	chr11:71791097..71793532-chr11:71809805..71812079,4	MCF-7	breast:
6	chr11:71790877..71793243-chr11:71934127..71937254,3	K562	blood:
7	chr11:71791686..71794615-chr11:71803298..71806095,2	MCF-7	breast:
8	chr11:71792174..71794558-chr11:71812228..71814732,3	MCF-7	breast:
9	chr11:71792007..71794260-chr11:71797315..71799047,2	MCF-7	breast:
10	chr11:71748762..71757629-chr11:71789138..71799261,28	MCF-7	breast:
11	chr11:71791731..71794694-chr11:71822498..71824725,2	MCF-7	breast:
12	chr11:71789323..71798359-chr11:71810049..71815293,14	MCF-7	breast:
13	chr11:71638248..71640782-chr11:71791184..71792782,2	K562	blood:
14	chr11:71781171..71786362-chr11:71787519..71793039,9	K562	blood:

Variant related genes	Relation type
NUMA1	TF binding region
ENSG00000212089	TF binding region
LRTOMT	TF binding region
ENSG00000238768	Chromatin interaction
ENSG00000165458	Chromatin interaction
ENSG00000184154	Chromatin interaction
ENSG00000149357	Chromatin interaction
ENSG00000263742	Chromatin interaction
ENSG00000110200	Chromatin interaction
ENSG00000137497	Chromatin interaction
ENSG00000137496	Chromatin interaction
ENSG00000206783	Chromatin interaction
ENSG00000137522	Chromatin interaction
ENSG00000254469	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs36029905	1.00[AFR][1000 genomes]
rs55649541	1.00[AMR][1000 genomes]
rs57438678	1.00[AFR][1000 genomes]
rs57920810	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57956403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60163837	1.00[AFR][1000 genomes]
rs60828158	1.00[AMR][1000 genomes]
rs61740471	1.00[AMR][1000 genomes]
rs7123665	1.00[AMR][1000 genomes]
rs73527747	1.00[AMR][1000 genomes]
rs73527765	1.00[AMR][1000 genomes]
rs73531963	0.88[AFR][1000 genomes]
rs73531984	0.88[AFR][1000 genomes]
rs73533756	1.00[AFR][1000 genomes]
rs73533759	0.89[AFR][1000 genomes]
rs73533760	0.84[AFR][1000 genomes]
rs73533784	0.84[AFR][1000 genomes]
rs73533798	1.00[AFR][1000 genomes]
rs73537512	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73539517	1.00[AFR][1000 genomes]
rs73543608	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73543620	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73543646	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv428262	chr11:71363639-71804055	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71789400-71792800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr11:71789800-71792800	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr11:71790200-71792800	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr11:71791000-71792800	Active TSS	Thymus	Thymus
5	chr11:71792000-71792800	Flanking Active TSS	Brain Anterior Caudate	brain
6	chr11:71792000-71792800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
7	chr11:71792000-71792800	Flanking Active TSS	Dnd41	blood
8	chr11:71792000-71792800	Flanking Active TSS	GM12878-XiMat	blood
9	chr11:71792000-71792800	Flanking Active TSS	NHEK	skin
10	chr11:71792000-71793600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:71792200-71792800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr11:71792200-71792800	Flanking Active TSS	Fetal Lung	lung
13	chr11:71792200-71792800	Flanking Active TSS	Placenta	Placenta
14	chr11:71792200-71793000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr11:71792200-71793000	Enhancers	Spleen	Spleen
16	chr11:71792200-71793200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr11:71792400-71792800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr11:71792400-71792800	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr11:71792400-71792800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:71792400-71792800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr11:71792400-71792800	Enhancers	Brain Angular Gyrus	brain
22	chr11:71792400-71792800	Enhancers	Fetal Intestine Large	intestine
23	chr11:71792400-71792800	Enhancers	Fetal Stomach	stomach
24	chr11:71792400-71792800	Enhancers	Fetal Thymus	thymus
25	chr11:71792400-71792800	Enhancers	Right Atrium	heart
26	chr11:71792400-71792800	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr11:71792400-71792800	Enhancers	HepG2	liver
28	chr11:71792400-71792800	Enhancers	NH-A	brain
29	chr11:71792400-71793000	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr11:71792400-71793200	Enhancers	Primary T cells fromperipheralblood	blood
31	chr11:71792400-71793200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr11:71792400-71793200	Enhancers	Fetal Muscle Leg	muscle
33	chr11:71792400-71793400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:71792400-71793400	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr11:71792400-71793400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr11:71792400-71793400	Enhancers	Brain Substantia Nigra	brain
37	chr11:71792400-71793400	Enhancers	Fetal Kidney	kidney
38	chr11:71792400-71793400	Enhancers	Lung	lung
39	chr11:71792400-71793600	Enhancers	Primary B cells from cord blood	blood
40	chr11:71792400-71793600	Enhancers	Primary B cells from peripheral blood	blood
41	chr11:71792400-71793600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:71792400-71793600	Enhancers	Stomach Mucosa	stomach
43	chr11:71792400-71793600	Enhancers	Hela-S3	cervix
44	chr11:71792400-71793800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr11:71792400-71793800	Enhancers	Primary T cells from cord blood	blood
46	chr11:71792400-71793800	Enhancers	Primary hematopoietic stem cells	blood
47	chr11:71792400-71794000	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr11:71792400-71794000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:71792400-71796200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:71792400-71797000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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