Variant report

Variant	rs56151197
Chromosome Location	chr11:66038094-66038095
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:66037968-66038144	K562	blood:	n/a	n/a
2	POLR2A	chr11:66038028-66038117	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:66038026-66038121	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65624882..65627968-chr11:66034504..66038316,6	K562	blood:
2	chr11:66034858..66038328-chr11:66053749..66060447,9	MCF-7	breast:
3	chr11:66034813..66037719-chr11:66037930..66039835,3	MCF-7	breast:
4	chr11:65728121..65730647-chr11:66035766..66038196,2	MCF-7	breast:
5	chr11:65657107..65659864-chr11:66036057..66038289,3	MCF-7	breast:
6	chr11:66036265..66039186-chr11:66074799..66077052,2	MCF-7	breast:
7	chr11:66035212..66038142-chr11:66136666..66139462,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254762	TF binding region
ENSG00000254855	TF binding region
ENSG00000175602	Chromatin interaction
ENSG00000254762	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000174903	Chromatin interaction
ENSG00000179292	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000174669	Chromatin interaction
ENSG00000174851	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs2078069	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3814739	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs484261	0.93[EUR][1000 genomes]
rs4930173	0.88[ASN][1000 genomes]
rs4930344	0.88[ASN][1000 genomes]
rs4930345	0.89[ASN][1000 genomes]
rs4930346	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs513474	0.86[ASN][1000 genomes]
rs526200	0.81[ASN][1000 genomes]
rs55746937	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55838040	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55931871	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56038054	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs561373	0.83[ASN][1000 genomes]
rs56285664	0.84[ASN][1000 genomes]
rs57678007	0.88[ASN][1000 genomes]
rs7123153	0.86[ASN][1000 genomes]
rs7128537	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72936632	0.86[ASN][1000 genomes]
rs72936635	0.86[ASN][1000 genomes]
rs72936656	0.88[ASN][1000 genomes]
rs72936660	0.89[ASN][1000 genomes]
rs72936672	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72936699	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
5	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 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	chr11:66037000-66039400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:66037000-66039800	Weak transcription	Small Intestine	intestine
3	chr11:66037200-66038200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:66037200-66038200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:66037200-66038200	Enhancers	Liver	Liver
6	chr11:66037200-66038400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr11:66037200-66038400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr11:66037200-66038400	Enhancers	Fetal Heart	heart
9	chr11:66037200-66038400	Enhancers	Left Ventricle	heart
10	chr11:66037200-66038400	Enhancers	Psoas Muscle	Psoas
11	chr11:66037200-66038600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr11:66037200-66038600	Enhancers	Pancreas	Pancrea
13	chr11:66037200-66039200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:66037200-66039400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr11:66037200-66039400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr11:66037200-66039400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:66037200-66039400	Weak transcription	Ovary	ovary
18	chr11:66037200-66039400	Weak transcription	HSMMtube	muscle
19	chr11:66037200-66039600	Weak transcription	Aorta	Aorta
20	chr11:66037200-66039800	Weak transcription	Fetal Kidney	kidney
21	chr11:66037400-66038200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:66037400-66038200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:66037400-66038200	Enhancers	Right Atrium	heart
24	chr11:66037400-66038400	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr11:66037400-66038400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:66037400-66038400	Enhancers	Adipose Nuclei	Adipose
27	chr11:66037400-66038400	Enhancers	Brain Hippocampus Middle	brain
28	chr11:66037400-66038400	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr11:66037400-66038400	Genic enhancers	Fetal Muscle Leg	muscle
30	chr11:66037400-66038600	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr11:66037400-66038600	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr11:66037400-66038600	Enhancers	Colon Smooth Muscle	Colon
33	chr11:66037400-66038600	Genic enhancers	Placenta	Placenta
34	chr11:66037400-66039200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr11:66037400-66039200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr11:66037400-66044600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:66037400-66044800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr11:66037600-66038200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:66037600-66038200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:66037600-66038200	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr11:66037600-66038200	Enhancers	Primary T cells from cord blood	blood
42	chr11:66037600-66038200	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr11:66037600-66038200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:66037600-66038200	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:66037600-66038200	Genic enhancers	Colonic Mucosa	Colon
46	chr11:66037600-66038200	Genic enhancers	Rectal Mucosa Donor 29	rectum
47	chr11:66037600-66038200	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr11:66037600-66038400	Genic enhancers	Muscle Satellite Cultured Cells	--
49	chr11:66037600-66038400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:66037600-66038400	Enhancers	Right Ventricle	heart

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