Variant report

Variant	rs34972213
Chromosome Location	chr11:9534001-9534002
allele	C/T
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	FOXA1	chr11:9533880-9534519	HepG2	liver:	n/a	n/a
2	FOXA1	chr11:9533826-9534428	HepG2	liver:	n/a	n/a
3	FOXA1	chr11:9533978-9534349	HepG2	liver:	n/a	n/a
4	FOXA2	chr11:9533941-9534413	HepG2	liver:	n/a	n/a
5	FOXA1	chr11:9533969-9534415	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9480637..9483121-chr11:9531195..9534021,2	MCF-7	breast:

Variant related genes	Relation type
ZNF143	TF binding region
ENSG00000166478	Chromatin interaction
ENSG00000268403	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11042379	0.83[AFR][1000 genomes]
rs12274646	0.83[AFR][1000 genomes]
rs56080598	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57050521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58602953	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59113683	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59158354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59571955	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60482254	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404392	1.00[AMR][1000 genomes]
rs73406261	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406268	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406269	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406283	0.87[AFR][1000 genomes]
rs73406286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406301	0.91[AFR][1000 genomes];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	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv427882	chr11:9431600-9626580	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
3	nsv1039537	chr11:9455387-9535970	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv553467	chr11:9518551-9648721	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 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	chr11:9484600-9544800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:9491400-9551600	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr11:9519200-9534200	Weak transcription	Fetal Brain Female	brain
4	chr11:9521000-9545200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr11:9523400-9534200	Weak transcription	Right Ventricle	heart
6	chr11:9523400-9550800	Weak transcription	Colonic Mucosa	Colon
7	chr11:9523400-9551000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:9528000-9534800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr11:9528000-9540000	Strong transcription	Fetal Thymus	thymus
10	chr11:9528800-9534200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr11:9528800-9534200	Weak transcription	Hela-S3	cervix
12	chr11:9528800-9550400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr11:9529200-9550800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr11:9530000-9541000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr11:9530200-9538400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr11:9530200-9538800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr11:9530200-9539600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:9530200-9540000	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr11:9530200-9540200	Strong transcription	Fetal Muscle Trunk	muscle
20	chr11:9530200-9541400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:9530200-9541400	Strong transcription	Adipose Nuclei	Adipose
22	chr11:9530200-9544600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr11:9530200-9551000	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr11:9530400-9539400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr11:9531000-9534200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr11:9531000-9534200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr11:9531000-9535200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:9531000-9535200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:9531000-9535800	Weak transcription	NHLF	lung
30	chr11:9531000-9550800	Weak transcription	Pancreas	Pancrea
31	chr11:9531400-9534200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr11:9531600-9534200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr11:9531600-9539600	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr11:9531800-9534200	Weak transcription	Brain Substantia Nigra	brain
35	chr11:9532600-9534400	Weak transcription	Fetal Kidney	kidney
36	chr11:9532600-9546400	Weak transcription	Stomach Mucosa	stomach
37	chr11:9533400-9534600	Enhancers	Fetal Intestine Small	intestine
38	chr11:9533400-9541600	Strong transcription	Primary B cells from peripheral blood	blood
39	chr11:9533400-9550600	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr11:9533600-9534400	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr11:9533600-9534800	Strong transcription	Placenta Amnion	Placenta Amnion
42	chr11:9533600-9535000	Strong transcription	NHEK	skin
43	chr11:9533600-9535200	Strong transcription	Placenta	Placenta
44	chr11:9533600-9535600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr11:9533600-9536000	Strong transcription	HSMM	muscle
46	chr11:9533600-9536400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
47	chr11:9533600-9536600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr11:9533600-9536600	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr11:9533600-9537600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr11:9533600-9538400	Strong transcription	Colon Smooth Muscle	Colon

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