Variant report

Variant	rs60183400
Chromosome Location	chr11:47296701-47296702
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	POLR2A	chr11:47296414-47296789	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:47199031..47201349-chr11:47296627..47299505,2	MCF-7	breast:
2	chr11:47295273..47297466-chr11:47311711..47313688,2	MCF-7	breast:
3	chr11:47236334..47237852-chr11:47295301..47296980,2	MCF-7	breast:

Variant related genes	Relation type
MADD	TF binding region
ENSG00000256746	TF binding region
ENSG00000134574	Chromatin interaction
ENSG00000165912	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11039213	1.00[AMR][1000 genomes]
rs11039229	1.00[AMR][1000 genomes]
rs11570119	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2010519	1.00[AMR][1000 genomes]
rs2053978	1.00[AMR][1000 genomes]
rs34037785	1.00[AMR][1000 genomes]
rs4647717	1.00[AMR][1000 genomes]
rs4647745	1.00[AMR][1000 genomes]
rs57572703	1.00[AMR][1000 genomes]
rs58880275	1.00[AMR][1000 genomes]
rs59693089	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59726655	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60580032	1.00[AMR][1000 genomes]
rs7123107	1.00[AMR][1000 genomes]
rs7950077	1.00[AMR][1000 genomes]
rs896814	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	esv3330173	chr11:47289256-47450681	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv3416377	chr11:47289276-47450651	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47293200-47297000	Weak transcription	HUVEC	blood vessel
2	chr11:47294200-47296800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr11:47294200-47297200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:47294200-47297400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr11:47294600-47355200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr11:47294800-47297200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:47294800-47297200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr11:47294800-47297200	Strong transcription	Hela-S3	cervix
9	chr11:47294800-47297400	Weak transcription	Psoas Muscle	Psoas
10	chr11:47294800-47297400	Weak transcription	HSMM	muscle
11	chr11:47294800-47305800	Weak transcription	Stomach Mucosa	stomach
12	chr11:47294800-47310200	Weak transcription	Right Atrium	heart
13	chr11:47295000-47323600	Strong transcription	Dnd41	blood
14	chr11:47295200-47298000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr11:47295200-47308800	Strong transcription	Osteobl	bone
16	chr11:47295200-47319800	Strong transcription	Fetal Muscle Trunk	muscle
17	chr11:47295200-47320200	Strong transcription	Fetal Stomach	stomach
18	chr11:47295200-47321600	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr11:47295200-47323800	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr11:47295200-47326800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:47295400-47297800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:47295400-47298400	Strong transcription	Placenta	Placenta
23	chr11:47295400-47298600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr11:47295400-47299000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:47295400-47301200	Strong transcription	Fetal Lung	lung
26	chr11:47295400-47301800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr11:47295400-47303800	Strong transcription	Liver	Liver
28	chr11:47295400-47303800	Strong transcription	HepG2	liver
29	chr11:47295400-47308200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr11:47295400-47308400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
31	chr11:47295400-47308400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
32	chr11:47295400-47308600	Strong transcription	NHLF	lung
33	chr11:47295400-47318200	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr11:47295400-47318800	Strong transcription	Thymus	Thymus
35	chr11:47295400-47319200	Strong transcription	Brain Cingulate Gyrus	brain
36	chr11:47295400-47319600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:47295400-47319600	Strong transcription	Fetal Brain Female	brain
38	chr11:47295400-47320800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr11:47295400-47321400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr11:47295400-47323800	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr11:47295400-47324800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr11:47295400-47324800	Strong transcription	Fetal Thymus	thymus
43	chr11:47295400-47340200	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr11:47295400-47341000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr11:47295400-47352600	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr11:47295600-47297800	Weak transcription	Fetal Heart	heart
47	chr11:47295600-47297800	Strong transcription	K562	blood
48	chr11:47295600-47299200	Strong transcription	Left Ventricle	heart
49	chr11:47295600-47319600	Strong transcription	Fetal Muscle Leg	muscle
50	chr11:47295600-47320000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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