Variant report

Variant	rs2630382
Chromosome Location	chr1:72529524-72529525
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2630380	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2630385	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2630387	1.00[AFR][1000 genomes]
rs2821250	1.00[AMR][1000 genomes]
rs2821277	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817447	chr1:72098815-72558020	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv916783	chr1:72196061-72707953	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1007910	chr1:72247302-72543998	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1007073	chr1:72419858-72734657	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1006076	chr1:72477436-72700903	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv534996	chr1:72477436-72700903	Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv428454	chr1:72504469-72926256	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv546479	chr1:72509490-72555807	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv2763318	chr1:72515717-72543691	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72526800-72532400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr1:72527600-72529800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:72527600-72530200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:72527800-72529600	Enhancers	NHEK	skin
5	chr1:72528400-72530000	Weak transcription	Brain Substantia Nigra	brain
6	chr1:72528600-72529600	Enhancers	HMEC	breast
7	chr1:72528600-72530000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:72528600-72530000	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr1:72528800-72529600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:72529000-72529800	Enhancers	Rectal Smooth Muscle	rectum
11	chr1:72529000-72530400	Enhancers	Colon Smooth Muscle	Colon
12	chr1:72529200-72529600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:72529200-72530400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr1:72529200-72530600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:72529200-72530600	Active TSS	Stomach Smooth Muscle	stomach
16	chr1:72529400-72529600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:72529400-72529600	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr1:72529400-72529800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:72529400-72530000	Active TSS	Brain Angular Gyrus	brain
20	chr1:72529400-72530000	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr1:72529400-72530000	Active TSS	Right Atrium	heart
22	chr1:72529400-72530200	Enhancers	Aorta	Aorta
23	chr1:72529400-72530400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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