Variant report

Variant	rs57175012
Chromosome Location	chr1:45200415-45200416
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45190324..45200952-chr1:45272085..45288310,59	MCF-7	breast:
2	chr1:45195070..45199174-chr1:45199435..45202619,4	MCF-7	breast:
3	chr1:45193443..45200768-chr1:45280884..45289784,25	MCF-7	breast:
4	chr1:45178001..45208867-chr1:45262751..45305400,520	K562	blood:
5	chr1:45178748..45209946-chr1:45262890..45299284,515	K562	blood:
6	chr1:45199496..45202300-chr1:45202425..45207135,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117425	Chromatin interaction
ENSG00000173846	Chromatin interaction
ENSG00000222009	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000142945	Chromatin interaction
ENSG00000188396	Chromatin interaction
ENSG00000200169	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17883044	1.00[AMR][1000 genomes]
rs25687	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60411293	1.00[AMR][1000 genomes]
rs6656623	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6690913	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7515879	0.86[AFR][1000 genomes];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	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1004861	chr1:44843654-45210176	Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
3	nsv534940	chr1:44843654-45210176	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
4	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
5	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
6	nsv1014894	chr1:45139123-45397943	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	414 gene(s)	inside rSNPs	diseases
7	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
8	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
9	nsv998871	chr1:45196587-45251179	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	171 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45189800-45205000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:45196400-45204200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:45197000-45203800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:45197000-45204200	Weak transcription	Colon Smooth Muscle	Colon
5	chr1:45197000-45204800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:45197000-45204800	Weak transcription	Right Atrium	heart
7	chr1:45197200-45204800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:45197200-45204800	Weak transcription	Fetal Lung	lung
9	chr1:45197600-45204600	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr1:45197600-45204600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr1:45197600-45204600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr1:45197600-45204800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr1:45197600-45204800	Weak transcription	Adipose Nuclei	Adipose
14	chr1:45197800-45200600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:45197800-45203800	Weak transcription	Thymus	Thymus
16	chr1:45197800-45204600	Weak transcription	Primary T cells from cord blood	blood
17	chr1:45197800-45204600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:45197800-45204800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr1:45197800-45204800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr1:45197800-45204800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr1:45197800-45204800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr1:45197800-45204800	Weak transcription	NH-A	brain
23	chr1:45198000-45200600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr1:45198000-45201600	Enhancers	Placenta	Placenta
25	chr1:45198000-45204600	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr1:45198000-45204600	Weak transcription	Hela-S3	cervix
27	chr1:45198000-45204800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr1:45198000-45204800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr1:45198000-45205000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr1:45199200-45204800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:45199400-45200600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:45199400-45204000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:45199400-45204200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:45199400-45204800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:45199400-45204800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr1:45199400-45204800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:45199400-45204800	Weak transcription	Fetal Muscle Leg	muscle
38	chr1:45199400-45204800	Weak transcription	HMEC	breast
39	chr1:45199600-45204800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:45199600-45204800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr1:45199600-45204800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:45199600-45204800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:45199600-45204800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr1:45199600-45204800	Weak transcription	NHDF-Ad	bronchial
45	chr1:45199800-45203800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:45199800-45204200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:45199800-45204800	Weak transcription	Osteobl	bone
48	chr1:45200200-45200600	Flanking Active TSS	HepG2	liver
49	chr1:45200400-45200600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr1:45200400-45200600	Enhancers	Muscle Satellite Cultured Cells	--

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