Variant report

Variant	rs11544783
Chromosome Location	chr16:77233445-77233446
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:77223287..77227235-chr16:77231893..77237199,5	MCF-7	breast:
2	chr16:77223627..77226316-chr16:77230976..77234622,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000103111	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1019565	1.00[ASN][1000 genomes]
rs11149971	1.00[ASN][1000 genomes]
rs11860898	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11863718	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12931673	0.90[ASN][1000 genomes]
rs13329731	0.90[ASN][1000 genomes]
rs13329816	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13330279	1.00[ASN][1000 genomes]
rs13330367	0.90[ASN][1000 genomes]
rs13332812	0.90[ASN][1000 genomes]
rs13336198	0.94[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13337994	0.90[ASN][1000 genomes]
rs13339324	0.81[ASN][1000 genomes]
rs1428838	0.90[ASN][1000 genomes]
rs1428839	0.90[ASN][1000 genomes]
rs2017197	1.00[ASN][1000 genomes]
rs28539358	0.90[ASN][1000 genomes]
rs61746433	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6564417	0.90[ASN][1000 genomes]
rs7184776	0.91[ASN][1000 genomes]
rs7188241	0.90[ASN][1000 genomes]
rs719053	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7198006	0.90[ASN][1000 genomes]
rs7198588	0.90[ASN][1000 genomes]
rs7201284	0.91[ASN][1000 genomes]
rs7203467	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73627401	0.90[ASN][1000 genomes]
rs73633620	0.90[ASN][1000 genomes]
rs73633624	0.90[ASN][1000 genomes]
rs73633633	0.90[ASN][1000 genomes]
rs73633644	0.90[ASN][1000 genomes]
rs73633647	0.90[ASN][1000 genomes]
rs73633654	0.90[ASN][1000 genomes]
rs73633661	0.90[ASN][1000 genomes]
rs7501191	0.90[ASN][1000 genomes]
rs8048478	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9924958	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9929722	0.90[ASN][1000 genomes]
rs9931082	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9931400	0.90[ASN][1000 genomes]
rs9935921	0.90[ASN][1000 genomes]
rs9936182	0.90[ASN][1000 genomes]
rs9937408	0.90[ASN][1000 genomes]
rs9937693	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9938871	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869201	chr16:76714549-77233646	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv1065343	chr16:76927295-77279747	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv542965	chr16:76927295-77279747	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1055234	chr16:77003426-77467286	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv1065048	chr16:77003426-77675163	Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	esv2830376	chr16:77014551-77658185	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
7	nsv1065149	chr16:77032082-77671890	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv1062349	chr16:77039764-77458731	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv542967	chr16:77039764-77458731	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	nsv1056676	chr16:77139682-77854848	Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
11	nsv1066258	chr16:77229953-77521919	Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv542968	chr16:77229953-77521919	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:77226200-77240400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr16:77226400-77240200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr16:77226600-77233800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr16:77226600-77233800	Strong transcription	A549	lung
5	chr16:77226600-77234200	Strong transcription	Fetal Muscle Leg	muscle
6	chr16:77226600-77235000	Weak transcription	Psoas Muscle	Psoas
7	chr16:77226600-77235600	Strong transcription	Fetal Thymus	thymus
8	chr16:77226800-77233800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr16:77226800-77233800	Strong transcription	Colonic Mucosa	Colon
10	chr16:77226800-77233800	Strong transcription	Skeletal Muscle Female	skeletal muscle
11	chr16:77226800-77234000	Strong transcription	Thymus	Thymus
12	chr16:77226800-77234000	Strong transcription	K562	blood
13	chr16:77226800-77234600	Strong transcription	Fetal Muscle Trunk	muscle
14	chr16:77226800-77235200	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr16:77226800-77235600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr16:77226800-77235600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr16:77226800-77235600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr16:77227000-77233800	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr16:77227000-77233800	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr16:77227000-77234000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr16:77227000-77234000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr16:77227000-77235600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr16:77227000-77235600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr16:77227000-77235600	Strong transcription	Liver	Liver
25	chr16:77227000-77235800	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr16:77227000-77236200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr16:77227000-77236600	Strong transcription	Primary T cells from cord blood	blood
28	chr16:77227000-77246000	Weak transcription	Fetal Heart	heart
29	chr16:77227200-77233800	Strong transcription	Rectal Smooth Muscle	rectum
30	chr16:77227200-77234000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr16:77227200-77234000	Strong transcription	Fetal Intestine Small	intestine
32	chr16:77227200-77234000	Strong transcription	Left Ventricle	heart
33	chr16:77227200-77234200	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr16:77227200-77234600	Strong transcription	Fetal Stomach	stomach
35	chr16:77227200-77235600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr16:77227200-77235600	Strong transcription	Placenta	Placenta
37	chr16:77227200-77245800	Weak transcription	Fetal Kidney	kidney
38	chr16:77227200-77247200	Weak transcription	Hela-S3	cervix
39	chr16:77227400-77233800	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr16:77227400-77233800	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr16:77227400-77234000	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr16:77227400-77234000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr16:77227400-77234000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr16:77227400-77234000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr16:77227400-77234000	Strong transcription	Brain Anterior Caudate	brain
46	chr16:77227400-77234000	Strong transcription	Stomach Smooth Muscle	stomach
47	chr16:77227400-77234000	Strong transcription	HepG2	liver
48	chr16:77227400-77235600	Strong transcription	Duodenum Mucosa	Duodenum
49	chr16:77227600-77233800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr16:77227600-77233800	Strong transcription	Fetal Lung	lung

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