Variant report

Variant	rs322774
Chromosome Location	chr7:127761539-127761540
allele	C/T
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: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs322724	0.83[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	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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127744600-127761600	Weak transcription	Right Atrium	heart
2	chr7:127753400-127762000	Weak transcription	Fetal Brain Female	brain
3	chr7:127756000-127762000	Weak transcription	HSMM	muscle
4	chr7:127756200-127761800	Weak transcription	Esophagus	oesophagus
5	chr7:127758600-127761800	Weak transcription	Primary B cells from cord blood	blood
6	chr7:127761000-127761800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr7:127761000-127761800	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr7:127761000-127762400	Enhancers	Fetal Thymus	thymus
9	chr7:127761000-127763400	Enhancers	Fetal Brain Male	brain
10	chr7:127761000-127763400	Enhancers	Spleen	Spleen
11	chr7:127761000-127763600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:127761200-127761600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr7:127761200-127761600	Enhancers	NHEK	skin
14	chr7:127761200-127762000	Enhancers	Brain Hippocampus Middle	brain
15	chr7:127761400-127761600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:127761400-127761600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:127761400-127761600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chr7:127761400-127761600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:127761400-127761600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:127761400-127761600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:127761400-127761600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:127761400-127761600	Enhancers	Adipose Nuclei	Adipose
23	chr7:127761400-127761600	Flanking Active TSS	Brain Cingulate Gyrus	brain
24	chr7:127761400-127761600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr7:127761400-127761600	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr7:127761400-127761600	Enhancers	Ovary	ovary
27	chr7:127761400-127761800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:127761400-127761800	Enhancers	Left Ventricle	heart
29	chr7:127761400-127761800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
30	chr7:127761400-127761800	Flanking Active TSS	Osteobl	bone
31	chr7:127761400-127762000	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr7:127761400-127762000	Enhancers	Fetal Kidney	kidney
33	chr7:127761400-127762400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:127761400-127762400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr7:127761400-127762800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr7:127761400-127763000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:127761400-127763400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:127761400-127763400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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