Variant report

Variant	rs322773
Chromosome Location	chr7:127762119-127762120
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127755171..127759390-chr7:127760267..127762582,4	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs322735	0.81[EUR][1000 genomes]
rs322736	0.81[EUR][1000 genomes]
rs322737	0.82[EUR][1000 genomes]
rs322750	0.82[EUR][1000 genomes]
rs322753	0.83[EUR][1000 genomes]
rs322754	0.83[EUR][1000 genomes]
rs322764	0.83[EUR][1000 genomes]
rs322772	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs322776	0.91[EUR][1000 genomes]
rs322777	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127761000-127762400	Enhancers	Fetal Thymus	thymus
2	chr7:127761000-127763400	Enhancers	Fetal Brain Male	brain
3	chr7:127761000-127763400	Enhancers	Spleen	Spleen
4	chr7:127761000-127763600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:127761400-127762400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:127761400-127762400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:127761400-127762800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:127761400-127763000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:127761400-127763400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:127761400-127763400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr7:127761600-127762200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:127761600-127762200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:127761600-127762200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:127761600-127762200	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr7:127761600-127762200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
16	chr7:127761600-127762200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
17	chr7:127761600-127762400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
18	chr7:127761600-127762400	Active TSS	Muscle Satellite Cultured Cells	--
19	chr7:127761600-127762400	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr7:127761600-127762400	Flanking Active TSS	Ovary	ovary
21	chr7:127761600-127762400	Active TSS	Right Atrium	heart
22	chr7:127761600-127762400	Bivalent/Poised TSS	K562	blood
23	chr7:127761600-127762600	Flanking Active TSS	NHEK	skin
24	chr7:127761600-127762800	Enhancers	Primary hematopoietic stem cells	blood
25	chr7:127761800-127762200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:127761800-127762200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr7:127761800-127762200	Flanking Active TSS	Left Ventricle	heart
28	chr7:127761800-127762200	Bivalent/Poised TSS	Psoas Muscle	Psoas
29	chr7:127761800-127762200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
30	chr7:127761800-127762200	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
31	chr7:127761800-127762200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
32	chr7:127761800-127762200	Active TSS	Osteobl	bone
33	chr7:127761800-127762400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr7:127761800-127762400	Active TSS	Brain Substantia Nigra	brain
35	chr7:127761800-127762600	Enhancers	Primary B cells from cord blood	blood
36	chr7:127761800-127763000	Enhancers	Esophagus	oesophagus
37	chr7:127761800-127763200	Enhancers	Placenta	Placenta
38	chr7:127761800-127763400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr7:127761800-127764200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:127762000-127762200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr7:127762000-127762200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr7:127762000-127762200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr7:127762000-127762200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr7:127762000-127762200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:127762000-127762200	Active TSS	Brain Cingulate Gyrus	brain
46	chr7:127762000-127762200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
47	chr7:127762000-127762200	Active TSS	Fetal Kidney	kidney
48	chr7:127762000-127762200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
49	chr7:127762000-127762200	Enhancers	HSMM	muscle
50	chr7:127762000-127762400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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