Variant report

Variant	rs72952117
Chromosome Location	chr1:85067708-85067709
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:85062635..85064532-chr1:85066699..85068510,2	K562	blood:
2	chr1:85066761..85068323-chr1:85074286..85076322,2	K562	blood:
3	chr1:84971513..84973895-chr1:85067584..85070054,2	K562	blood:

Variant related genes	Relation type
ENSG00000122432	Chromatin interaction
ENSG00000174021	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs41284601	1.00[EUR][1000 genomes]
rs57732801	0.85[AFR][1000 genomes]
rs59883827	0.84[AFR][1000 genomes]
rs72716961	1.00[EUR][1000 genomes]
rs72950335	0.84[AFR][1000 genomes]
rs72950360	0.84[AFR][1000 genomes]
rs72950371	0.95[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000325	chr1:85032605-85100748	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85051000-85069800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:85065600-85068200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:85065600-85068200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr1:85065600-85068800	Weak transcription	Brain Angular Gyrus	brain
5	chr1:85065600-85069600	Weak transcription	Left Ventricle	heart
6	chr1:85065800-85068000	Weak transcription	Aorta	Aorta
7	chr1:85065800-85068000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:85065800-85069000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr1:85065800-85069000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr1:85066000-85068800	Weak transcription	HMEC	breast
11	chr1:85066000-85068800	Weak transcription	NHEK	skin
12	chr1:85066000-85069000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:85066000-85069000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:85066200-85068000	Weak transcription	Fetal Heart	heart
15	chr1:85066200-85068600	Weak transcription	HSMMtube	muscle
16	chr1:85066200-85069000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:85066400-85068400	Weak transcription	Colon Smooth Muscle	Colon
18	chr1:85066400-85068400	Weak transcription	Hela-S3	cervix
19	chr1:85066400-85068600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:85066400-85068600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:85066400-85069000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:85066600-85067800	Weak transcription	NHDF-Ad	bronchial
23	chr1:85066600-85068400	Weak transcription	NH-A	brain
24	chr1:85066600-85068600	Weak transcription	HSMM	muscle
25	chr1:85066600-85069000	Weak transcription	NHLF	lung
26	chr1:85066800-85068000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:85066800-85068400	Weak transcription	Osteobl	bone
28	chr1:85067000-85068000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:85067000-85068000	Weak transcription	HUVEC	blood vessel
30	chr1:85067000-85068200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:85067000-85068600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:85067200-85068600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:85067600-85069000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:85067600-85069400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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