Variant report

Variant	rs11172087
Chromosome Location	chr12:57450839-57450840
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57443720..57447783-chr12:57448016..57452046,6	K562	blood:
2	chr12:57449683..57452110-chr12:57569238..57570942,2	K562	blood:
3	chr12:57448347..57452034-chr12:57452358..57454961,5	K562	blood:
4	chr12:57444123..57447783-chr12:57448306..57452399,6	K562	blood:
5	chr12:57450318..57452656-chr12:57485066..57488003,2	K562	blood:
6	chr12:57397640..57402458-chr12:57449819..57457812,10	MCF-7	breast:
7	chr12:57401074..57403067-chr12:57449205..57451549,2	MCF-7	breast:
8	chr12:57400549..57402896-chr12:57450333..57452770,2	K562	blood:
9	chr12:57448610..57451268-chr12:57455524..57458365,3	K562	blood:
10	chr12:57387870..57390339-chr12:57449748..57452397,2	MCF-7	breast:
11	chr12:57420089..57422951-chr12:57449645..57451532,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000166860	Chromatin interaction
ENSG00000166866	Chromatin interaction
ENSG00000166863	Chromatin interaction
ENSG00000166856	Chromatin interaction
ENSG00000258442	Chromatin interaction
ENSG00000166886	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11172083	1.00[AMR][1000 genomes]
rs12297756	1.00[AFR][1000 genomes]
rs2229281	1.00[AMR][1000 genomes]
rs34035404	1.00[AMR][1000 genomes]
rs34241718	1.00[AMR][1000 genomes]
rs57244425	1.00[AMR][1000 genomes]
rs60301769	1.00[AMR][1000 genomes]
rs60957079	1.00[AMR][1000 genomes]
rs61609471	1.00[AMR][1000 genomes]
rs73330570	1.00[AMR][1000 genomes]
rs73330571	1.00[AMR][1000 genomes]
rs73332659	1.00[AMR][1000 genomes]
rs73332662	1.00[AMR][1000 genomes]
rs73332664	1.00[AMR][1000 genomes]
rs73332676	1.00[AMR][1000 genomes]
rs73332678	1.00[AMR][1000 genomes]
rs73332681	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv428590	chr12:57329214-57527358	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv832428	chr12:57340609-57535694	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats 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	103 gene(s)	inside rSNPs	diseases
4	nsv899110	chr12:57422934-57472502	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv899111	chr12:57438658-57472502	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 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	chr12:57420400-57471800	Weak transcription	Gastric	stomach
2	chr12:57437000-57471400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:57440400-57451800	Weak transcription	Aorta	Aorta
4	chr12:57440400-57463200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:57441800-57452600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr12:57442000-57452000	Weak transcription	Esophagus	oesophagus
7	chr12:57442200-57451000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:57442200-57451000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:57442200-57451200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:57442200-57451800	Weak transcription	HSMM	muscle
11	chr12:57442200-57452200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:57442200-57452200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr12:57442200-57452400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:57442200-57471600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:57442400-57451800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:57442400-57456200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr12:57442400-57456800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr12:57442600-57451200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:57442800-57453200	Weak transcription	Hela-S3	cervix
20	chr12:57443000-57451800	Weak transcription	Lung	lung
21	chr12:57443200-57452200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:57444000-57451000	Weak transcription	Fetal Stomach	stomach
23	chr12:57444000-57463400	Weak transcription	Spleen	Spleen
24	chr12:57444600-57463400	Weak transcription	Colonic Mucosa	Colon
25	chr12:57444800-57451000	Weak transcription	NHEK	skin
26	chr12:57445000-57451200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr12:57445000-57452200	Weak transcription	Brain Anterior Caudate	brain
28	chr12:57445000-57464400	Weak transcription	Brain Substantia Nigra	brain
29	chr12:57445200-57451000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr12:57445200-57451800	Weak transcription	Brain Hippocampus Middle	brain
31	chr12:57445400-57451000	Weak transcription	HepG2	liver
32	chr12:57445800-57451000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:57445800-57451000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr12:57445800-57452000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr12:57445800-57452200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr12:57446000-57452200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:57446800-57451000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:57447200-57452400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr12:57447600-57451800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:57447600-57451800	Weak transcription	Brain Germinal Matrix	brain
41	chr12:57447800-57451000	Weak transcription	Left Ventricle	heart
42	chr12:57447800-57452600	Weak transcription	Fetal Brain Female	brain
43	chr12:57447800-57457400	Strong transcription	A549	lung
44	chr12:57448000-57462400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:57448000-57463400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:57448000-57472800	Weak transcription	Fetal Heart	heart
47	chr12:57448200-57452200	Weak transcription	Fetal Brain Male	brain
48	chr12:57448400-57451200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr12:57448400-57452000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:57448400-57462800	Strong transcription	Fetal Thymus	thymus

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