Variant report

Variant	rs12220553
Chromosome Location	chr10:5632380-5632381
allele	C/T
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:5631393..5632960-chr10:5641583..5643544,2	MCF-7	breast:
2	chr10:5631327..5633176-chr10:5653154..5654967,2	MCF-7	breast:
3	chr10:5616972..5619862-chr10:5631106..5633140,2	K562	blood:
4	chr10:5623673..5635207-chr10:5656121..5669428,27	MCF-7	breast:
5	chr10:5558375..5560423-chr10:5631236..5633723,2	MCF-7	breast:
6	chr10:5533762..5535661-chr10:5631397..5633599,2	MCF-7	breast:
7	chr10:5632155..5634180-chr10:5706202..5708995,2	MCF-7	breast:
8	chr10:5624590..5636573-chr10:5652742..5661113,15	MCF-7	breast:
9	chr10:5584975..5598212-chr10:5621607..5634806,86	MCF-7	breast:
10	chr10:5486586..5497147-chr10:5622068..5633259,25	MCF-7	breast:
11	chr10:5629660..5633537-chr10:5634085..5636643,3	K562	blood:
12	chr10:5528878..5533686-chr10:5631469..5634620,4	MCF-7	breast:
13	chr10:5487228..5489563-chr10:5631145..5633414,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000228951	Chromatin interaction
ENSG00000231483	Chromatin interaction
ENSG00000228685	Chromatin interaction
ENSG00000173848	Chromatin interaction
ENSG00000196372	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs58098457	0.89[AMR][1000 genomes]
rs60549704	0.96[AMR][1000 genomes]
rs73606799	0.82[AFR][1000 genomes];0.96[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	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
4	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
5	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
6	nsv523491	chr10:5542109-5720067	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	esv2757364	chr10:5557024-5720512	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
8	esv2759729	chr10:5557024-5804780	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5625000-5632400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr10:5625200-5634400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr10:5626000-5634600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr10:5626200-5636200	Weak transcription	Primary B cells from cord blood	blood
5	chr10:5626400-5633600	Enhancers	Fetal Thymus	thymus
6	chr10:5627400-5639400	Enhancers	Fetal Muscle Leg	muscle
7	chr10:5628600-5633200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr10:5628600-5634400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr10:5628600-5636200	Weak transcription	Fetal Kidney	kidney
10	chr10:5628800-5633400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr10:5629000-5635000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr10:5629400-5634600	Enhancers	Placenta	Placenta
13	chr10:5629800-5632800	Weak transcription	Fetal Intestine Small	intestine
14	chr10:5629800-5633000	Weak transcription	Fetal Intestine Large	intestine
15	chr10:5629800-5634200	Weak transcription	Pancreas	Pancrea
16	chr10:5630000-5634200	Weak transcription	Right Atrium	heart
17	chr10:5630000-5636200	Weak transcription	Fetal Lung	lung
18	chr10:5630400-5632600	Enhancers	Hela-S3	cervix
19	chr10:5630400-5633200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr10:5630400-5633800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr10:5630800-5632400	Enhancers	NHEK	skin
22	chr10:5630800-5633800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr10:5630800-5636400	Weak transcription	Left Ventricle	heart
24	chr10:5631000-5632800	Enhancers	A549	lung
25	chr10:5631000-5633400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr10:5631000-5634800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr10:5631200-5632400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr10:5631200-5632400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr10:5631200-5632400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr10:5631200-5632400	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr10:5631200-5632600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr10:5631200-5633200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr10:5631200-5636200	Weak transcription	Lung	lung
34	chr10:5631400-5632400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr10:5631400-5632400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr10:5631400-5632600	Enhancers	Osteobl	bone
37	chr10:5631400-5632800	Enhancers	HSMMtube	muscle
38	chr10:5631400-5633200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr10:5631400-5634400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr10:5631600-5632400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr10:5631600-5632400	Enhancers	NH-A	brain
42	chr10:5631600-5632600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr10:5631600-5632800	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr10:5631600-5633400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr10:5631800-5632400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr10:5631800-5632400	Bivalent Enhancer	GM12878-XiMat	blood
47	chr10:5631800-5632400	Enhancers	HUVEC	blood vessel
48	chr10:5631800-5632400	Enhancers	K562	blood
49	chr10:5631800-5632600	Enhancers	HSMM	muscle
50	chr10:5631800-5633800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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