Variant report

Variant	rs56782857
Chromosome Location	chr3:150102666-150102667
allele	C/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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:150101451..150104370-chr3:150105337..150109927,7	K562	blood:
2	chr3:150093950..150095964-chr3:150101199..150103384,2	K562	blood:
3	chr3:150101054..150103942-chr3:150125603..150131015,6	K562	blood:
4	chr3:150100256..150103024-chr3:150133786..150136650,2	K562	blood:
5	chr3:150090383..150092393-chr3:150101374..150104090,2	K562	blood:
6	chr3:150093390..150097610-chr3:150100766..150105118,7	MCF-7	breast:
7	chr3:150101273..150104730-chr3:150121434..150128062,8	K562	blood:
8	chr3:150098184..150100046-chr3:150100500..150103295,2	K562	blood:
9	chr3:150102544..150105170-chr3:150106754..150108675,2	K562	blood:
10	chr3:150101805..150104730-chr3:150121434..150125041,3	K562	blood:
11	chr3:150101832..150103393-chr3:150130176..150133046,2	MCF-7	breast:
12	chr3:150100542..150102255-chr3:150102482..150105071,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196428	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs4681611	0.82[EUR][1000 genomes]
rs55752233	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55857164	0.83[AFR][1000 genomes]
rs56203514	0.81[AFR][1000 genomes]
rs58143991	0.81[AFR][1000 genomes]
rs59500396	0.87[EUR][1000 genomes]
rs60274646	0.87[AFR][1000 genomes]
rs73003262	0.87[EUR][1000 genomes]
rs73003264	0.87[EUR][1000 genomes]
rs73003268	0.87[EUR][1000 genomes]
rs73005439	0.87[EUR][1000 genomes]
rs73005478	0.87[AFR][1000 genomes]
rs73007757	0.81[AFR][1000 genomes]
rs73007758	0.81[AFR][1000 genomes]
rs73007760	0.81[AFR][1000 genomes]
rs73007761	0.81[AFR][1000 genomes]
rs73007763	0.81[AFR][1000 genomes]
rs73869210	0.84[EUR][1000 genomes]
rs73869233	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829755	chr3:149992023-150156001	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	esv1828464	chr3:150096071-150149868	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 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	chr3:150090200-150124600	Weak transcription	Aorta	Aorta
2	chr3:150090800-150107000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:150090800-150108600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:150090800-150111000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:150090800-150111000	Weak transcription	NHEK	skin
6	chr3:150094600-150106200	Weak transcription	HSMM	muscle
7	chr3:150094600-150108800	Weak transcription	NHLF	lung
8	chr3:150094800-150108200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:150096000-150105200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:150096200-150108400	Weak transcription	A549	lung
11	chr3:150097600-150102800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr3:150097600-150103400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:150097800-150102800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr3:150097800-150111200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr3:150098000-150102800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:150102000-150103000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:150102000-150103600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr3:150102200-150102800	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr3:150102200-150102800	Enhancers	Adipose Nuclei	Adipose
20	chr3:150102200-150102800	Enhancers	Fetal Muscle Trunk	muscle
21	chr3:150102200-150102800	Enhancers	Fetal Muscle Leg	muscle
22	chr3:150102200-150103000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr3:150102200-150103400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr3:150102200-150103600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr3:150102200-150103600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:150102200-150103600	Enhancers	Placenta	Placenta
27	chr3:150102200-150103800	Enhancers	Fetal Thymus	thymus
28	chr3:150102400-150102800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr3:150102400-150102800	Flanking Active TSS	HepG2	liver
30	chr3:150102400-150102800	Flanking Active TSS	K562	blood
31	chr3:150102400-150103000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr3:150102400-150103000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr3:150102400-150103000	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr3:150102400-150103000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr3:150102400-150103000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr3:150102400-150103000	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr3:150102400-150103000	Enhancers	Fetal Intestine Small	intestine
38	chr3:150102400-150103200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr3:150102400-150103200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr3:150102400-150103200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
41	chr3:150102400-150103200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr3:150102400-150103200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr3:150102400-150103200	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr3:150102400-150103200	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr3:150102400-150103200	Enhancers	Fetal Heart	heart
46	chr3:150102400-150103400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr3:150102400-150103400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr3:150102400-150103400	Flanking Active TSS	Primary B cells from peripheral blood	blood
49	chr3:150102400-150103400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr3:150102400-150103400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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