Variant report

Variant	rs73533798
Chromosome Location	chr11:71751129-71751130
allele	A/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	MXI1	chr11:71748458-71753885	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr11:71750809-71753110	HepG2	liver:	n/a	n/a
3	MAX	chr11:71750655-71751231	MCF-7	breast:	n/a	n/a
4	POLR2A	chr11:71751099-71753250	HUVEC	blood vessel:	n/a	n/a
5	TCF12	chr11:71751078-71753287	A549	lung:	n/a	n/a
6	REST	chr11:71750289-71753776	H1-neurons	neurons:	n/a	chr11:71752906-71752919 chr11:71750381-71750399 chr11:71752969-71752978 chr11:71750429-71750437 chr11:71752897-71752910
7	MXI1	chr11:71750863-71751183	GM12878	blood:	n/a	n/a
8	SIN3AK20	chr11:71750497-71753402	MCF-7	breast:	n/a	n/a
9	NR2F2	chr11:71750169-71751322	MCF-7	breast:	n/a	chr11:71750503-71750518
10	POLR2A	chr11:71751072-71753356	GM12878	blood:	n/a	n/a
11	MTA3	chr11:71751096-71753151	GM12878	blood:	n/a	n/a
12	HDAC2	chr11:71750490-71751383	MCF-7	breast:	n/a	n/a
13	WRNIP1	chr11:71750327-71753715	GM12878	blood:	n/a	n/a
14	POLR2A	chr11:71750646-71753544	HUVEC	blood vessel:	n/a	n/a
15	GATA3	chr11:71750653-71751307	MCF-7	breast:	n/a	chr11:71750720-71750730 chr11:71751066-71751077
16	POLR2A	chr11:71749728-71753193	MCF-7	breast:	n/a	n/a
17	GATA3	chr11:71750745-71751148	T-47D	breast:	n/a	chr11:71751066-71751077
18	MXI1	chr11:71749374-71753436	IMR90	lung:	n/a	n/a
19	GATA3	chr11:71750757-71751193	T-47D	breast:	n/a	chr11:71751066-71751077
20	STAT5A	chr11:71750773-71752198	GM12878	blood:	n/a	chr11:71752160-71752168 chr11:71751091-71751114

No.	Distal block	Cell Line	Cell type
1	chr11:71748920..71751712-chr11:71934433..71936381,2	K562	blood:
2	chr11:71747688..71754289-chr11:71810930..71816696,13	MCF-7	breast:
3	chr11:71749172..71754555-chr11:71820034..71825981,11	MCF-7	breast:
4	chr11:71749103..71754368-chr11:71778297..71785639,14	MCF-7	breast:
5	chr11:71748762..71757629-chr11:71789138..71799261,28	MCF-7	breast:
6	chr11:71750300..71753281-chr16:70322027..70323675,2	MCF-7	breast:
7	chr11:71749313..71752204-chr11:71820647..71824475,4	MCF-7	breast:
8	chr11:71747646..71754177-chr11:71811554..71816654,6	K562	blood:
9	chr11:71749038..71754852-chr11:71933473..71937860,9	MCF-7	breast:
10	chr11:71750510..71752098-chr11:71789258..71791823,2	K562	blood:
11	chr11:71749829..71754834-chr11:71810770..71817366,12	MCF-7	breast:
12	chr11:71743810..71760160-chr11:71777190..71805714,79	MCF-7	breast:
13	chr11:71750373..71752525-chr11:71933775..71937280,4	MCF-7	breast:

Variant related genes	Relation type
NUMA1	TF binding region
ENSG00000110200	Chromatin interaction
ENSG00000184154	Chromatin interaction
ENSG00000165458	Chromatin interaction
ENSG00000212089	Chromatin interaction
ENSG00000137497	Chromatin interaction
ENSG00000263742	Chromatin interaction
ENSG00000090861	Chromatin interaction
ENSG00000110203	Chromatin interaction
ENSG00000157349	Chromatin interaction
ENSG00000238768	Chromatin interaction
ENSG00000149357	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs36029905	1.00[AFR][1000 genomes]
rs57438678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57920810	0.84[AFR][1000 genomes]
rs57956403	1.00[AFR][1000 genomes]
rs60163837	1.00[AFR][1000 genomes]
rs61378805	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];1.00[AMR][1000 genomes]
rs73533760	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73533784	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73537512	0.84[AFR][1000 genomes]
rs73537523	1.00[AFR][1000 genomes]
rs73539517	1.00[AFR][1000 genomes]
rs73543608	0.89[AFR][1000 genomes]
rs73543620	0.89[AFR][1000 genomes]
rs73543646	0.84[AFR][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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71747800-71751200	Enhancers	Spleen	Spleen
2	chr11:71748000-71751200	Enhancers	H1 Cell Line	embryonic stem cell
3	chr11:71748400-71751200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:71748400-71751600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:71748600-71751200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr11:71748600-71751200	Flanking Active TSS	Fetal Lung	lung
7	chr11:71748600-71751400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr11:71748600-71751400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:71748600-71751400	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr11:71748800-71751200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr11:71748800-71751200	Flanking Active TSS	Brain Angular Gyrus	brain
12	chr11:71748800-71751200	Flanking Active TSS	Brain Hippocampus Middle	brain
13	chr11:71748800-71751200	Flanking Active TSS	Thymus	Thymus
14	chr11:71748800-71751400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:71748800-71751400	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr11:71748800-71751400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chr11:71748800-71751400	Flanking Active TSS	Brain Cingulate Gyrus	brain
18	chr11:71748800-71751400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr11:71748800-71751400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
20	chr11:71748800-71751400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr11:71748800-71751400	Flanking Active TSS	Osteobl	bone
22	chr11:71748800-71751600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr11:71748800-71751600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr11:71748800-71751800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:71748800-71751800	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr11:71748800-71751800	Flanking Active TSS	Fetal Brain Male	brain
27	chr11:71748800-71751800	Flanking Active TSS	Fetal Thymus	thymus
28	chr11:71749000-71751200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:71749000-71751400	Flanking Active TSS	Brain Anterior Caudate	brain
30	chr11:71749000-71751400	Flanking Active TSS	Brain Substantia Nigra	brain
31	chr11:71749000-71751400	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr11:71749000-71753200	Active TSS	Ovary	ovary
33	chr11:71749200-71751200	Flanking Active TSS	Left Ventricle	heart
34	chr11:71749200-71751400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr11:71749200-71751400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr11:71749200-71751400	Flanking Active TSS	HSMM	muscle
37	chr11:71749200-71751600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr11:71749200-71751800	Flanking Active TSS	NH-A	brain
39	chr11:71749400-71751400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr11:71749400-71751800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr11:71749400-71751800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:71749400-71753200	Active TSS	Fetal Kidney	kidney
43	chr11:71749400-71753400	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr11:71749600-71751200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr11:71749600-71751200	Flanking Active TSS	Colonic Mucosa	Colon
46	chr11:71749600-71751400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
47	chr11:71749600-71751400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
48	chr11:71749600-71751600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr11:71749600-71751600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr11:71749600-71751800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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