Variant report

Variant	rs73227911
Chromosome Location	chr12:122027283-122027284
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	chr12:122017945..122023539-chr12:122025012..122028731,5	K562	blood:

Variant related genes	Relation type
ENSG00000256742	Chromatin interaction
ENSG00000089094	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs28461264	1.00[EUR][1000 genomes]
rs28468612	0.97[EUR][1000 genomes]
rs28490151	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35343615	1.00[AMR][1000 genomes]
rs4760124	1.00[AMR][1000 genomes]
rs4981001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4981012	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60186830	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7313954	0.87[EUR][1000 genomes]
rs73227908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227913	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73227927	0.85[AMR][1000 genomes]
rs73227935	0.85[AMR][1000 genomes]
rs73227941	1.00[AMR][1000 genomes]
rs73227944	1.00[AMR][1000 genomes]
rs73227945	1.00[AMR][1000 genomes]
rs73227946	1.00[AMR][1000 genomes]
rs73227949	1.00[AMR][1000 genomes]
rs73227954	1.00[AMR][1000 genomes]
rs7397580	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7486943	0.85[AMR][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	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122020200-122027800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr12:122020600-122027800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:122020600-122028400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:122020600-122030200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:122020800-122027600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr12:122020800-122027600	Weak transcription	Psoas Muscle	Psoas
7	chr12:122020800-122027600	Weak transcription	Right Atrium	heart
8	chr12:122020800-122027800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr12:122020800-122040400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:122021000-122027600	Weak transcription	Placenta	Placenta
11	chr12:122021000-122027800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr12:122021000-122027800	Weak transcription	Fetal Intestine Small	intestine
13	chr12:122021000-122027800	Weak transcription	Fetal Stomach	stomach
14	chr12:122021000-122027800	Weak transcription	NHDF-Ad	bronchial
15	chr12:122021200-122027600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr12:122021200-122027800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:122021200-122027800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:122021200-122027800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr12:122021200-122027800	Weak transcription	Osteobl	bone
20	chr12:122021200-122028200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:122021200-122028400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:122021200-122028400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:122021200-122028400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr12:122021200-122028400	Weak transcription	Aorta	Aorta
25	chr12:122021200-122036000	Weak transcription	Brain Germinal Matrix	brain
26	chr12:122021400-122027800	Weak transcription	HepG2	liver
27	chr12:122021600-122033000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:122021800-122027400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr12:122022000-122028400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:122022200-122027400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr12:122022200-122027600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:122022200-122027600	Weak transcription	K562	blood
33	chr12:122022200-122027800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:122022200-122028200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr12:122022200-122028200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr12:122022200-122028400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr12:122022200-122028400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:122022200-122028600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:122022400-122028400	Weak transcription	Fetal Heart	heart
40	chr12:122022600-122027400	Weak transcription	Dnd41	blood
41	chr12:122024000-122028400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr12:122024200-122027400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr12:122024200-122028200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr12:122024400-122027600	Weak transcription	GM12878-XiMat	blood
45	chr12:122024400-122028200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:122024400-122028400	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr12:122024400-122028400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr12:122025000-122027800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr12:122025000-122028200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr12:122025400-122028200	Weak transcription	HSMM	muscle

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