Variant report

Variant	rs7932705
Chromosome Location	chr11:57101000-57101001
allele	C/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	CTCF	chr11:57100883-57101073	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57100645..57102849-chr11:57191907..57194145,2	K562	blood:
2	chr11:57100898..57102455-chr11:57439946..57441627,2	K562	blood:

Variant related genes	Relation type
P2RX3	TF binding region
ENSG00000238692	TF binding region
ENSG00000156599	Chromatin interaction
ENSG00000134802	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs34921598	1.00[AMR][1000 genomes]
rs7120078	1.00[AMR][1000 genomes]
rs7128178	1.00[AMR][1000 genomes]
rs7129780	1.00[AMR][1000 genomes]
rs7130847	1.00[AMR][1000 genomes]
rs7943508	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	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv541048	chr11:57076815-57120781	Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57093200-57101600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:57093200-57102800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:57093400-57102000	Strong transcription	H9 Cell Line	embryonic stem cell
4	chr11:57093600-57101400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:57093600-57101600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
6	chr11:57093600-57102000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:57093800-57101000	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr11:57093800-57101000	Strong transcription	Brain Angular Gyrus	brain
9	chr11:57093800-57101000	Strong transcription	Brain Hippocampus Middle	brain
10	chr11:57093800-57101200	Strong transcription	Fetal Brain Female	brain
11	chr11:57093800-57101600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:57093800-57101600	Strong transcription	Brain Anterior Caudate	brain
13	chr11:57093800-57101800	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr11:57093800-57102000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr11:57094000-57101000	Strong transcription	Duodenum Smooth Muscle	Duodenum
16	chr11:57094000-57101200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:57094000-57101200	Strong transcription	Brain Inferior Temporal Lobe	brain
18	chr11:57094000-57101200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr11:57094000-57101200	Strong transcription	NH-A	brain
20	chr11:57094000-57101200	Strong transcription	Osteobl	bone
21	chr11:57094000-57101400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:57094000-57101600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:57094000-57101600	Strong transcription	Fetal Muscle Leg	muscle
24	chr11:57094000-57101800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:57094000-57101800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:57094000-57101800	Strong transcription	Fetal Lung	lung
27	chr11:57094000-57101800	Strong transcription	NHEK	skin
28	chr11:57094000-57102000	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr11:57094200-57101000	Strong transcription	Primary B cells from cord blood	blood
30	chr11:57094200-57101200	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr11:57094200-57101200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr11:57094200-57101400	Strong transcription	Primary B cells from peripheral blood	blood
33	chr11:57094200-57101400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr11:57094200-57101400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:57094200-57101600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:57094200-57101800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:57094200-57101800	Strong transcription	Fetal Muscle Trunk	muscle
38	chr11:57094200-57102000	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr11:57094200-57102000	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr11:57094200-57102000	Strong transcription	Placenta	Placenta
41	chr11:57094200-57102000	Strong transcription	Fetal Stomach	stomach
42	chr11:57094200-57102000	Weak transcription	Right Atrium	heart
43	chr11:57094200-57102000	Strong transcription	Spleen	Spleen
44	chr11:57094400-57101000	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr11:57094400-57101000	Strong transcription	Liver	Liver
46	chr11:57094400-57101000	Strong transcription	Colonic Mucosa	Colon
47	chr11:57094400-57101000	Strong transcription	Rectal Smooth Muscle	rectum
48	chr11:57094400-57101200	Strong transcription	HepG2	liver
49	chr11:57094400-57101400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:57094400-57101400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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