Variant report

Variant	rs322815
Chromosome Location	chr7:127744492-127744493
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:35849732..35850242-chr7:127744018..127744801,2	NB4	blood:
2	chr7:127735968..127738181-chr7:127743649..127746341,2	K562	blood:
3	chr7:127735954..127738632-chr7:127744138..127745884,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000161326	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs322784	0.80[AMR][1000 genomes]
rs322786	0.81[AMR][1000 genomes]
rs322787	0.83[AMR][1000 genomes]
rs322790	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs322791	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs322806	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs322807	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs322808	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs322809	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs322811	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs322812	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5028619	0.81[AMR][1000 genomes];0.81[EUR][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:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127734400-127748200	Weak transcription	Dnd41	blood
2	chr7:127743400-127744600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:127743400-127744800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
4	chr7:127743400-127744800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:127743400-127744800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:127743400-127745000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr7:127743400-127745000	Active TSS	Primary T cells from cord blood	blood
8	chr7:127743600-127744600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:127743600-127744600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:127743600-127744600	Active TSS	Brain Anterior Caudate	brain
11	chr7:127743600-127744600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:127743600-127744600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
13	chr7:127743600-127744600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
14	chr7:127743600-127744600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
15	chr7:127743600-127744600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
16	chr7:127743600-127744600	Flanking Bivalent TSS/Enh	Thymus	Thymus
17	chr7:127743600-127744600	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
18	chr7:127743600-127744600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr7:127743600-127744800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
20	chr7:127743600-127744800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
21	chr7:127743600-127744800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
22	chr7:127743600-127744800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:127743600-127744800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr7:127743600-127744800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:127743600-127744800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
26	chr7:127743600-127744800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
27	chr7:127743600-127744800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr7:127743600-127744800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr7:127743600-127744800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr7:127743600-127744800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr7:127743600-127744800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
32	chr7:127743600-127744800	Enhancers	Liver	Liver
33	chr7:127743600-127744800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
34	chr7:127743600-127744800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
35	chr7:127743600-127744800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
36	chr7:127743600-127745000	Bivalent Enhancer	Fetal Brain Male	brain
37	chr7:127743800-127744600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
38	chr7:127743800-127744600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr7:127743800-127744600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:127743800-127744600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:127743800-127744600	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
42	chr7:127743800-127744600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
43	chr7:127743800-127744600	Active TSS	Right Atrium	heart
44	chr7:127743800-127744600	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
45	chr7:127743800-127744600	Active TSS	HSMM	muscle
46	chr7:127743800-127744800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
47	chr7:127743800-127744800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr7:127743800-127744800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr7:127743800-127744800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr7:127743800-127744800	Bivalent Enhancer	Fetal Lung	lung

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