Variant report

Variant	rs56724201
Chromosome Location	chr10:5507711-5507712
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:5503481..5510254-chr10:5517688..5522992,9	K562	blood:
2	chr10:5506616..5508826-chr10:5661811..5663839,2	K562	blood:
3	chr10:5506572..5510809-chr10:5700493..5704095,7	MCF-7	breast:
4	chr10:5506585..5509485-chr10:5655712..5657765,3	MCF-7	breast:
5	chr10:5505541..5510842-chr10:5625752..5629034,6	MCF-7	breast:
6	chr10:5496908..5513504-chr10:5583876..5597686,82	MCF-7	breast:
7	chr10:5507144..5509626-chr6:15088279..15090071,2	MCF-7	breast:
8	chr10:5504374..5510192-chr10:5705342..5711307,7	MCF-7	breast:
9	chr10:5504960..5509775-chr10:5663443..5668727,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000228685	Chromatin interaction
ENSG00000196372	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10450530	1.00[AMR][1000 genomes]
rs10450531	1.00[AMR][1000 genomes]
rs4242793	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4415657	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4880730	1.00[AMR][1000 genomes]
rs56959063	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58833507	1.00[AMR][1000 genomes]
rs59584726	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59841593	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60653996	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60863214	0.85[AFR][1000 genomes]
rs7904871	1.00[AMR][1000 genomes]
rs7922103	1.00[AMR][1000 genomes]
rs9423432	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv932104	chr10:5203626-5641023	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv549886	chr10:5205437-5632060	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	nsv1054865	chr10:5225305-5638119	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv831774	chr10:5463556-5657421	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv894797	chr10:5499173-5558349	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv894798	chr10:5503610-5670275	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1051283	chr10:5505474-5619941	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5489800-5508400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr10:5496200-5508200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr10:5496600-5508000	Weak transcription	Small Intestine	intestine
4	chr10:5497200-5508600	Weak transcription	Fetal Brain Male	brain
5	chr10:5497400-5508200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr10:5499000-5508000	Weak transcription	Aorta	Aorta
7	chr10:5499000-5508200	Weak transcription	Fetal Brain Female	brain
8	chr10:5499000-5508400	Weak transcription	Left Ventricle	heart
9	chr10:5499000-5508800	Weak transcription	Lung	lung
10	chr10:5499000-5510000	Weak transcription	Spleen	Spleen
11	chr10:5500200-5511200	Weak transcription	Right Ventricle	heart
12	chr10:5502600-5509000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr10:5502800-5512200	Weak transcription	Gastric	stomach
14	chr10:5503000-5511600	Enhancers	Fetal Muscle Leg	muscle
15	chr10:5503000-5512400	Enhancers	Placenta	Placenta
16	chr10:5503200-5508000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr10:5503200-5508200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr10:5503200-5508400	Weak transcription	Primary T cells from cord blood	blood
19	chr10:5503600-5508000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr10:5504400-5508000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr10:5504400-5508000	Weak transcription	NH-A	brain
22	chr10:5504400-5508200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr10:5504400-5508200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr10:5504400-5508200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr10:5504400-5508400	Weak transcription	Thymus	Thymus
26	chr10:5504400-5508800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr10:5504600-5508000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr10:5504600-5508200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr10:5504600-5510000	Weak transcription	A549	lung
30	chr10:5504800-5508200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr10:5504800-5508200	Weak transcription	Fetal Heart	heart
32	chr10:5504800-5508200	Weak transcription	Fetal Intestine Large	intestine
33	chr10:5504800-5508200	Weak transcription	NHLF	lung
34	chr10:5505000-5508000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr10:5505000-5508200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr10:5505000-5508200	Weak transcription	HSMM	muscle
37	chr10:5505000-5508200	Weak transcription	HSMMtube	muscle
38	chr10:5505200-5507800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr10:5505200-5508000	Weak transcription	Adipose Nuclei	Adipose
40	chr10:5505200-5508200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr10:5505400-5508000	Weak transcription	Fetal Muscle Trunk	muscle
42	chr10:5505800-5508200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr10:5506200-5509800	Enhancers	Rectal Smooth Muscle	rectum
44	chr10:5506600-5508400	Enhancers	Colon Smooth Muscle	Colon
45	chr10:5506600-5509200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr10:5506600-5510600	Enhancers	Placenta Amnion	Placenta Amnion
47	chr10:5507000-5508000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr10:5507000-5508200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr10:5507000-5510600	Enhancers	Fetal Intestine Small	intestine
50	chr10:5507000-5510600	Enhancers	Rectal Mucosa Donor 31	rectum

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