Variant report

Variant	rs4454232
Chromosome Location	chr7:127775728-127775729
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:127775426..127776276-chr7:127848207..127849130,6	MCF-7	breast:
2	chr7:127675627..127676293-chr7:127775515..127776488,2	MCF-7	breast:
3	chr7:127770664..127774572-chr7:127774612..127778986,4	K562	blood:
4	chr7:127775242..127776690-chr7:127849539..127850451,13	K562	blood:
5	chr7:127775454..127776695-chr7:127847926..127849197,18	MCF-7	breast:
6	chr7:127775670..127776293-chr7:127847687..127848630,2	K562	blood:
7	chr7:127775629..127777562-chr7:127847751..127849671,2	MCF-7	breast:
8	chr7:127775450..127776513-chr7:127849436..127850519,6	MCF-7	breast:
9	chr7:127290259..127292033-chr7:127774841..127777045,2	K562	blood:
10	chr7:127224953..127226743-chr7:127774765..127776324,2	K562	blood:
11	chr7:127774436..127777299-chr7:127779150..127782660,3	K562	blood:
12	chr7:127770457..127772622-chr7:127774413..127777391,3	MCF-7	breast:
13	chr7:127775194..127776324-chr7:127839452..127840478,4	MCF-7	breast:
14	chr7:127775486..127776605-chr7:127849515..127850418,16	MCF-7	breast:
15	chr7:127775695..127776672-chr7:127838301..127838940,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000179562	Chromatin interaction
ENSG00000207705	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10954167	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10954168	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11979599	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs322734	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4728088	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4731400	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731403	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731405	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73226605	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73226606	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73226613	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73226620	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7790439	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7790858	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127774600-127775800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:127774600-127776000	Bivalent Enhancer	Placenta	Placenta
3	chr7:127774600-127776600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr7:127774600-127776800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr7:127774800-127775800	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:127774800-127775800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
7	chr7:127774800-127776000	Bivalent Enhancer	Stomach Mucosa	stomach
8	chr7:127774800-127776600	Bivalent Enhancer	Fetal Heart	heart
9	chr7:127774800-127776800	Bivalent/Poised TSS	Fetal Brain Female	brain
10	chr7:127775000-127775800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr7:127775000-127775800	Flanking Active TSS	Brain Hippocampus Middle	brain
12	chr7:127775000-127775800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:127775000-127776000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
14	chr7:127775000-127776000	Bivalent Enhancer	NHDF-Ad	bronchial
15	chr7:127775200-127775800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
16	chr7:127775200-127775800	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr7:127775200-127775800	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
18	chr7:127775200-127775800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
19	chr7:127775200-127775800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
20	chr7:127775200-127776000	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:127775200-127776600	Flanking Active TSS	Brain Anterior Caudate	brain
22	chr7:127775200-127776800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
23	chr7:127775200-127776800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr7:127775200-127776800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:127775400-127775800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
26	chr7:127775400-127775800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:127775400-127775800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:127775400-127775800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
29	chr7:127775400-127775800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
30	chr7:127775400-127775800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:127775400-127775800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr7:127775400-127775800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr7:127775400-127775800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr7:127775400-127775800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
35	chr7:127775400-127775800	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr7:127775400-127775800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:127775400-127775800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
38	chr7:127775400-127775800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:127775400-127775800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:127775400-127775800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:127775400-127775800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:127775400-127775800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:127775400-127775800	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
44	chr7:127775400-127775800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
45	chr7:127775400-127775800	Flanking Bivalent TSS/Enh	Liver	Liver
46	chr7:127775400-127775800	Flanking Active TSS	Brain Cingulate Gyrus	brain
47	chr7:127775400-127775800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
48	chr7:127775400-127775800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr7:127775400-127775800	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
50	chr7:127775400-127775800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum

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