Variant report

Variant	rs72920431
Chromosome Location	chr2:73251500-73251501
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	chr2:73247517..73249725-chr2:73250747..73253059,3	K562	blood:
2	chr2:73247767..73249725-chr2:73251116..73253059,2	K562	blood:

Variant related genes	Relation type
ENSG00000144040	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs56996879	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs57471178	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60292098	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs6546799	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6709269	1.00[EUR][1000 genomes]
rs6712130	0.88[AFR][1000 genomes]
rs6718781	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6748246	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72918396	0.83[AFR][1000 genomes]
rs72918397	0.83[AFR][1000 genomes]
rs72918398	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs72920409	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72920414	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72920416	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72920429	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72920430	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72920440	1.00[EUR][1000 genomes]
rs72920444	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72920447	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7560421	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs7593530	0.83[AFR][1000 genomes]
rs7599245	0.86[AFR][1000 genomes];0.93[AMR][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	nsv1002295	chr2:73216155-73350391	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73207800-73263200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:73211000-73258400	Weak transcription	Colonic Mucosa	Colon
3	chr2:73214200-73286400	Weak transcription	Psoas Muscle	Psoas
4	chr2:73215800-73263000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:73220600-73263200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:73221200-73263000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:73223200-73274600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:73224600-73261200	Weak transcription	Brain Substantia Nigra	brain
9	chr2:73233200-73270800	Weak transcription	Brain Germinal Matrix	brain
10	chr2:73236000-73264200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:73236800-73258800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:73246400-73253200	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr2:73246400-73263400	Weak transcription	K562	blood
14	chr2:73246400-73263600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:73246400-73277400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:73246600-73283800	Weak transcription	Hela-S3	cervix
17	chr2:73247400-73283800	Weak transcription	Dnd41	blood
18	chr2:73248200-73277200	Weak transcription	HMEC	breast
19	chr2:73248800-73261200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:73249000-73256000	Weak transcription	HSMM	muscle
21	chr2:73249000-73263600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:73249000-73270200	Weak transcription	Fetal Thymus	thymus
23	chr2:73249200-73256200	Weak transcription	Fetal Kidney	kidney
24	chr2:73249200-73265200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr2:73249200-73276000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:73249400-73255200	Weak transcription	Fetal Brain Female	brain
27	chr2:73249400-73255600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr2:73249400-73258200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr2:73249400-73258400	Weak transcription	A549	lung
30	chr2:73249400-73258800	Weak transcription	Pancreas	Pancrea
31	chr2:73249400-73259200	Weak transcription	Gastric	stomach
32	chr2:73249400-73260600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr2:73249400-73263000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr2:73249400-73265200	Weak transcription	Left Ventricle	heart
35	chr2:73249400-73267600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:73249400-73267600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr2:73249400-73284200	Weak transcription	Aorta	Aorta
38	chr2:73249400-73290000	Weak transcription	HUVEC	blood vessel
39	chr2:73249600-73252000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr2:73249600-73252800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:73249600-73254800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:73249600-73255400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:73249600-73255400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:73249600-73255600	Weak transcription	NHDF-Ad	bronchial
45	chr2:73249600-73255600	Weak transcription	Osteobl	bone
46	chr2:73249600-73255800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:73249600-73256000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:73249600-73257000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:73249600-73258400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr2:73249600-73259000	Weak transcription	Primary B cells from cord blood	blood

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