Variant report

Variant	rs61545193
Chromosome Location	chr1:153526249-153526250
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: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	chr1:153526108-153526261	K562	blood:	n/a	n/a
2	POLR2A	chr1:153517452-153526571	MCF10A-Er-Src	breast:	n/a	n/a
3	GATA1	chr1:153525575-153526418	PBDE	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:153524950..153526878-chr1:153963233..153964739,2	MCF-7	breast:
2	chr1:153520044..153522357-chr1:153524715..153527162,2	K562	blood:
3	chr1:153522864..153527279-chr1:153528529..153531164,4	K562	blood:
4	chr1:153522341..153524553-chr1:153525152..153528051,3	MCF-7	breast:
5	chr1:153524896..153526956-chr1:153582984..153585542,2	MCF-7	breast:
6	chr1:153516072..153519163-chr1:153525441..153529355,4	K562	blood:
7	chr1:153514728..153519163-chr1:153523629..153528346,5	K562	blood:

No data

Variant related genes	Relation type
S100A4	TF binding region
S100A3	TF binding region
ENSG00000188015	Chromatin interaction
ENSG00000196154	Chromatin interaction
ENSG00000177954	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11486186	1.00[AMR][1000 genomes]
rs11808118	1.00[AMR][1000 genomes]
rs28574283	1.00[AMR][1000 genomes]
rs34192791	1.00[AMR][1000 genomes]
rs59462422	0.82[AFR][1000 genomes]
rs61522372	0.82[AFR][1000 genomes]
rs6682725	1.00[AMR][1000 genomes]
rs73009905	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73009929	1.00[AMR][1000 genomes]
rs73009949	1.00[AMR][1000 genomes]
rs73009950	1.00[AMR][1000 genomes]
rs73009952	1.00[AMR][1000 genomes]
rs73026360	0.82[AFR][1000 genomes]
rs73026363	0.82[AFR][1000 genomes]
rs73026369	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73026373	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
2	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers 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 miRNA target site	236 gene(s)	inside rSNPs	diseases
3	nsv831603	chr1:153405842-153576143	Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	148 gene(s)	inside rSNPs	diseases
4	nsv1007306	chr1:153413827-153541798	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	146 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153509400-153527600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:153520000-153529400	Genic enhancers	HMEC	breast
3	chr1:153521800-153526400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr1:153522600-153526400	Weak transcription	Fetal Stomach	stomach
5	chr1:153522600-153526400	Weak transcription	Pancreas	Pancrea
6	chr1:153522600-153538000	Weak transcription	Colonic Mucosa	Colon
7	chr1:153524000-153526400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:153524000-153526800	Strong transcription	NHEK	skin
9	chr1:153524200-153526800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:153524200-153527400	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr1:153524800-153527000	Enhancers	Hela-S3	cervix
12	chr1:153524800-153527200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:153524800-153527200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:153524800-153527400	Enhancers	NHLF	lung
15	chr1:153525000-153526600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:153525000-153526600	Enhancers	K562	blood
17	chr1:153525000-153527000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:153525000-153527000	Enhancers	Placenta Amnion	Placenta Amnion
19	chr1:153525000-153527200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:153525000-153527200	Enhancers	NHDF-Ad	bronchial
21	chr1:153525000-153527400	Enhancers	Lung	lung
22	chr1:153525400-153527400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr1:153525400-153527400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr1:153525600-153526600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:153525600-153526600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:153525600-153527000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr1:153525600-153527200	Enhancers	Fetal Heart	heart
28	chr1:153525600-153527200	Enhancers	Ovary	ovary
29	chr1:153525600-153527200	Enhancers	Stomach Smooth Muscle	stomach
30	chr1:153525600-153527200	Enhancers	Spleen	Spleen
31	chr1:153525600-153527600	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr1:153525600-153527600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:153525600-153527600	Enhancers	Fetal Muscle Trunk	muscle
34	chr1:153525600-153527600	Enhancers	Fetal Muscle Leg	muscle
35	chr1:153525600-153527600	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr1:153525600-153528400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:153525800-153526400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:153525800-153526400	Enhancers	A549	lung
39	chr1:153525800-153526600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:153525800-153526800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:153525800-153527200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:153525800-153527200	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr1:153525800-153527400	Enhancers	Placenta	Placenta
44	chr1:153526000-153526600	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr1:153526000-153526600	Enhancers	Right Ventricle	heart
46	chr1:153526000-153526800	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr1:153526000-153526800	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr1:153526000-153526800	Enhancers	HUVEC	blood vessel
49	chr1:153526000-153527000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:153526000-153527000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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