Variant report

Variant	rs322756
Chromosome Location	chr7:127775551-127775552
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: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	chr7:127775426..127776276-chr7:127848207..127849130,6	MCF-7	breast:
2	chr7:127675627..127676293-chr7:127775515..127776488,2	MCF-7	breast:
3	chr7:127773375..127775632-chr7:127776520..127778934,2	K562	blood:
4	chr7:127770664..127774572-chr7:127774612..127778986,4	K562	blood:
5	chr7:127775242..127776690-chr7:127849539..127850451,13	K562	blood:
6	chr7:127775454..127776695-chr7:127847926..127849197,18	MCF-7	breast:
7	chr7:127775450..127776513-chr7:127849436..127850519,6	MCF-7	breast:
8	chr7:127290259..127292033-chr7:127774841..127777045,2	K562	blood:
9	chr7:127224953..127226743-chr7:127774765..127776324,2	K562	blood:
10	chr7:127774436..127777299-chr7:127779150..127782660,3	K562	blood:
11	chr7:127770457..127772622-chr7:127774413..127777391,3	MCF-7	breast:
12	chr7:127775194..127776324-chr7:127839452..127840478,4	MCF-7	breast:
13	chr7:127775486..127776605-chr7:127849515..127850418,16	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000179562	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs178733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs184430	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs322730	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs322732	0.86[ASN][1000 genomes]
rs322738	0.95[ASN][1000 genomes]
rs322749	0.85[ASN][1000 genomes]
rs322751	0.85[ASN][1000 genomes]
rs322752	0.92[ASN][1000 genomes]
rs322755	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs322760	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs322761	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs322762	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs322765	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs322766	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs322768	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs322770	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs322771	0.95[ASN][1000 genomes]
rs322775	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs322778	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs322780	0.87[ASN][1000 genomes]
rs322782	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs322783	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs322784	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs322785	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs322786	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs322787	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs322790	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs322791	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs322806	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs322807	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs322808	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs322809	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs322811	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs322812	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs322818	0.83[ASN][1000 genomes]
rs5028619	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6960004	0.82[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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127774600-127775600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
2	chr7:127774600-127775600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
3	chr7:127774600-127775600	Bivalent Enhancer	Fetal Intestine Small	intestine
4	chr7:127774600-127775600	Bivalent Enhancer	Fetal Stomach	stomach
5	chr7:127774600-127775800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:127774600-127776000	Bivalent Enhancer	Placenta	Placenta
7	chr7:127774600-127776600	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr7:127774600-127776800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr7:127774800-127775600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:127774800-127775600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
11	chr7:127774800-127775600	Bivalent Enhancer	Fetal Thymus	thymus
12	chr7:127774800-127775600	Enhancers	Pancreas	Pancrea
13	chr7:127774800-127775600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
14	chr7:127774800-127775600	Bivalent Enhancer	NH-A	brain
15	chr7:127774800-127775800	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:127774800-127775800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chr7:127774800-127776000	Bivalent Enhancer	Stomach Mucosa	stomach
18	chr7:127774800-127776600	Bivalent Enhancer	Fetal Heart	heart
19	chr7:127774800-127776800	Bivalent/Poised TSS	Fetal Brain Female	brain
20	chr7:127775000-127775600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
21	chr7:127775000-127775600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
22	chr7:127775000-127775600	Flanking Active TSS	Brain Angular Gyrus	brain
23	chr7:127775000-127775800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr7:127775000-127775800	Flanking Active TSS	Brain Hippocampus Middle	brain
25	chr7:127775000-127775800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:127775000-127776000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
27	chr7:127775000-127776000	Bivalent Enhancer	NHDF-Ad	bronchial
28	chr7:127775200-127775600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:127775200-127775600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
30	chr7:127775200-127775600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr7:127775200-127775600	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 1	blood
32	chr7:127775200-127775600	Flanking Active TSS	Brain Substantia Nigra	brain
33	chr7:127775200-127775600	Bivalent Enhancer	Fetal Intestine Large	intestine
34	chr7:127775200-127775600	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
35	chr7:127775200-127775600	Enhancers	Spleen	Spleen
36	chr7:127775200-127775600	Flanking Bivalent TSS/Enh	A549	lung
37	chr7:127775200-127775600	Bivalent Enhancer	HepG2	liver
38	chr7:127775200-127775800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
39	chr7:127775200-127775800	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr7:127775200-127775800	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
41	chr7:127775200-127775800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr7:127775200-127775800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
43	chr7:127775200-127776000	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:127775200-127776600	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr7:127775200-127776800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
46	chr7:127775200-127776800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
47	chr7:127775200-127776800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr7:127775400-127775600	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr7:127775400-127775600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr7:127775400-127775600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived

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