Variant report

Variant	rs72757957
Chromosome Location	chr1:214545760-214545761
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:214544334..214546758-chr1:214549472..214551826,2	K562	blood:

Variant related genes	Relation type
ENSG00000152104	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1498364	0.83[EUR][1000 genomes]
rs17730755	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17731174	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17786841	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17786949	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61821383	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72757948	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72757949	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72757965	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72757966	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214513600-214552200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:214519000-214557800	Weak transcription	Dnd41	blood
3	chr1:214519200-214577200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:214522800-214552800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:214524400-214574400	Weak transcription	Brain Hippocampus Middle	brain
6	chr1:214528600-214552800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:214528600-214555800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:214528800-214551800	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:214529000-214584200	Weak transcription	Brain Anterior Caudate	brain
10	chr1:214529400-214561800	Weak transcription	Brain Angular Gyrus	brain
11	chr1:214531600-214556800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:214534000-214557000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:214536200-214551000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:214537600-214577000	Weak transcription	Stomach Mucosa	stomach
15	chr1:214537800-214547400	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:214537800-214549000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:214538000-214556200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr1:214538000-214556400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr1:214538000-214559400	Weak transcription	Small Intestine	intestine
20	chr1:214538200-214556600	Weak transcription	Pancreas	Pancrea
21	chr1:214538600-214546000	Weak transcription	Lung	lung
22	chr1:214538600-214550600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:214538800-214549400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:214538800-214556400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:214539600-214561600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:214539800-214551000	Strong transcription	NHDF-Ad	bronchial
27	chr1:214540200-214547600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:214540400-214548400	Strong transcription	NHEK	skin
29	chr1:214540400-214552000	Strong transcription	HUVEC	blood vessel
30	chr1:214540600-214549200	Strong transcription	HMEC	breast
31	chr1:214540600-214549400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:214540800-214546000	Strong transcription	Fetal Lung	lung
33	chr1:214540800-214546400	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr1:214540800-214546600	Strong transcription	Stomach Smooth Muscle	stomach
35	chr1:214540800-214546800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:214540800-214547200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:214540800-214547200	Strong transcription	Fetal Stomach	stomach
38	chr1:214540800-214547400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:214541000-214546600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:214541200-214546200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:214541200-214552200	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr1:214541600-214566600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr1:214542000-214556200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr1:214542200-214545800	Strong transcription	Adipose Nuclei	Adipose
45	chr1:214542200-214551000	Strong transcription	HSMM	muscle
46	chr1:214542400-214549800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:214542400-214549800	Strong transcription	Placenta	Placenta
48	chr1:214543200-214548200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr1:214543200-214556400	Weak transcription	HepG2	liver
50	chr1:214543600-214561600	Weak transcription	Colonic Mucosa	Colon

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