Variant report

Variant	rs61745121
Chromosome Location	chr11:62376806-62376807
allele	A/G
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:6)
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	chr11:62373812-62380351	K562	blood:	n/a	n/a
2	POLR2A	chr11:62376302-62376852	K562	blood:	n/a	n/a
3	POLR2A	chr11:62376360-62377632	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62373213..62384382-chr11:62430946..62441432,32	K562	blood:
2	chr11:62373213..62382341-chr11:62430187..62440422,29	K562	blood:
3	chr11:62374418..62378633-chr11:62387946..62390795,5	MCF-7	breast:
4	chr11:62375885..62391030-chr11:62428132..62435550,30	MCF-7	breast:
5	chr11:62375128..62377182-chr11:62419132..62421810,2	MCF-7	breast:
6	chr11:62373062..62383315-chr11:62429730..62439835,25	MCF-7	breast:

No data

Variant related genes	Relation type
ROM1	TF binding region
EML3	TF binding region
ENSG00000214756	Chromatin interaction
ENSG00000149541	Chromatin interaction
ENSG00000204922	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000185085	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000255432	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17157390	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17157391	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs739793	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7926862	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
4	esv3584599	chr11:62262742-62398050	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
5	nsv832182	chr11:62295575-62462848	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers 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 miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
6	nsv825939	chr11:62326083-62410577	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
7	nsv497903	chr11:62330308-62608042	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers 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 miRNA miRNA target site	489 gene(s)	inside rSNPs	diseases
8	nsv555174	chr11:62334096-62496519	Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	243 gene(s)	inside rSNPs	diseases
9	nsv897622	chr11:62366986-62392229	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62370000-62378800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:62370200-62379000	Weak transcription	Fetal Kidney	kidney
3	chr11:62370600-62377200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr11:62370600-62378000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:62370600-62378600	Weak transcription	Small Intestine	intestine
6	chr11:62370600-62378800	Weak transcription	HSMMtube	muscle
7	chr11:62370800-62377800	Strong transcription	Primary T cells from cord blood	blood
8	chr11:62370800-62378000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:62370800-62378000	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr11:62370800-62378000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr11:62370800-62378400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:62370800-62378400	Weak transcription	Left Ventricle	heart
13	chr11:62370800-62378600	Weak transcription	Psoas Muscle	Psoas
14	chr11:62370800-62378600	Weak transcription	Right Atrium	heart
15	chr11:62371000-62377000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr11:62371000-62378200	Strong transcription	Thymus	Thymus
17	chr11:62371000-62378400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:62371000-62378600	Strong transcription	Osteobl	bone
19	chr11:62371000-62378800	Weak transcription	Brain Germinal Matrix	brain
20	chr11:62371000-62379000	Weak transcription	Fetal Brain Female	brain
21	chr11:62371200-62377400	Strong transcription	Lung	lung
22	chr11:62371200-62378200	Strong transcription	Placenta	Placenta
23	chr11:62371200-62378400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:62371400-62377600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr11:62371400-62378200	Strong transcription	Fetal Stomach	stomach
26	chr11:62371400-62378200	Strong transcription	Gastric	stomach
27	chr11:62371400-62378400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:62371600-62378200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:62371600-62378400	Weak transcription	Stomach Mucosa	stomach
30	chr11:62371600-62379000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr11:62371800-62378800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr11:62372200-62377200	Strong transcription	Ovary	ovary
33	chr11:62372600-62377400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:62372600-62378000	Strong transcription	Fetal Muscle Leg	muscle
35	chr11:62372600-62378800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr11:62372800-62377400	Strong transcription	Skeletal Muscle Male	skeletal muscle
37	chr11:62372800-62378000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr11:62372800-62378400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr11:62372800-62378600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr11:62373000-62378000	Weak transcription	A549	lung
41	chr11:62373000-62378400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr11:62373000-62378400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:62373000-62378600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:62373200-62377400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr11:62373200-62377800	Strong transcription	Stomach Smooth Muscle	stomach
46	chr11:62373200-62378200	Strong transcription	Fetal Muscle Trunk	muscle
47	chr11:62373600-62377800	Weak transcription	Pancreas	Pancrea
48	chr11:62373600-62378400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:62373800-62378000	Weak transcription	Colonic Mucosa	Colon
50	chr11:62373800-62378400	Weak transcription	Primary B cells from cord blood	blood

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