Variant report

Variant	rs57994718
Chromosome Location	chr11:64993942-64993943
allele	A/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64988866..64990383-chr11:64992045..64994203,2	K562	blood:
2	chr11:64901949..64903595-chr11:64993216..64995733,2	MCF-7	breast:
3	chr11:64992394..64994754-chr11:64999110..65001538,2	MCF-7	breast:
4	chr11:64986935..64989872-chr11:64992647..64995488,2	MCF-7	breast:
5	chr11:64980421..64987264-chr11:64991140..64994999,6	K562	blood:
6	chr11:64980421..64983038-chr11:64992029..64994539,2	K562	blood:
7	chr11:64983043..64986391-chr11:64991756..64994999,4	K562	blood:
8	chr11:64899551..64901557-chr11:64993119..64995072,2	K562	blood:
9	chr11:64993421..64996189-chr11:64998607..65001730,3	K562	blood:
10	chr11:64982257..64984604-chr11:64993334..64996229,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000162298	Chromatin interaction
ENSG00000197847	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17145218	0.86[EUR][1000 genomes]
rs4149830	0.86[EUR][1000 genomes]
rs4647576	0.81[EUR][1000 genomes]
rs4647587	0.81[EUR][1000 genomes]
rs57002824	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60763559	0.81[EUR][1000 genomes]
rs60933608	0.81[EUR][1000 genomes]
rs61732319	0.81[EUR][1000 genomes]
rs61742143	0.97[EUR][1000 genomes]
rs61743983	0.97[EUR][1000 genomes]
rs61746998	0.97[EUR][1000 genomes]
rs7127811	0.81[EUR][1000 genomes]
rs73482271	0.81[EUR][1000 genomes]
rs7950149	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv897713	chr11:64915042-65000719	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
3	nsv832190	chr11:64978144-65127613	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64977400-64998400	Weak transcription	Small Intestine	intestine
2	chr11:64992200-64994000	Enhancers	Stomach Mucosa	stomach
3	chr11:64992600-64994000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr11:64992600-64994000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:64992800-64994000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr11:64992800-64994000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:64992800-64994000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:64992800-64994000	Active TSS	Rectal Smooth Muscle	rectum
9	chr11:64992800-64994000	Flanking Active TSS	GM12878-XiMat	blood
10	chr11:64992800-64994000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr11:64993000-64994000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:64993000-64994000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr11:64993200-64994000	Flanking Bivalent TSS/Enh	HepG2	liver
14	chr11:64993400-65000000	Weak transcription	A549	lung
15	chr11:64993600-64994000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:64993600-64994000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr11:64993600-64994000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
18	chr11:64993600-64994000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
19	chr11:64993600-64994000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:64993600-64994000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
21	chr11:64993600-64994000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:64993600-64994000	Enhancers	Liver	Liver
23	chr11:64993600-64994000	Enhancers	Fetal Intestine Large	intestine
24	chr11:64993600-64994000	Enhancers	Fetal Intestine Small	intestine
25	chr11:64993600-64994000	Enhancers	Placenta	Placenta
26	chr11:64993600-64994000	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr11:64993600-64994000	Bivalent Enhancer	Thymus	Thymus
28	chr11:64993600-64996600	Weak transcription	Lung	lung
29	chr11:64993600-64997200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr11:64993600-64997200	Weak transcription	Psoas Muscle	Psoas
31	chr11:64993600-64997600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:64993600-64999400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr11:64993600-64999400	Weak transcription	NHLF	lung
34	chr11:64993600-64999800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:64993600-65001400	Weak transcription	Right Ventricle	heart
36	chr11:64993600-65011000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr11:64993800-64994000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
38	chr11:64993800-64994000	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr11:64993800-64994000	Enhancers	Primary B cells from cord blood	blood
40	chr11:64993800-64994000	Enhancers	Primary B cells from peripheral blood	blood
41	chr11:64993800-64994000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
42	chr11:64993800-64994000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
43	chr11:64993800-64994000	Enhancers	Adipose Nuclei	Adipose
44	chr11:64993800-64994000	Enhancers	Brain Hippocampus Middle	brain
45	chr11:64993800-64994000	Enhancers	Colonic Mucosa	Colon
46	chr11:64993800-64994000	Enhancers	Colon Smooth Muscle	Colon
47	chr11:64993800-64994000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
48	chr11:64993800-64994000	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr11:64993800-64994000	Enhancers	NHEK	skin
50	chr11:64993800-64994200	Enhancers	Primary monocytes fromperipheralblood	blood

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