Variant report

Variant	rs73404050
Chromosome Location	chr12:122802288-122802289
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122792061..122794415-chr12:122801391..122803054,2	K562	blood:
2	chr12:122797956..122799865-chr12:122801211..122803514,2	K562	blood:
3	chr12:122800426..122802982-chr12:122821173..122823608,2	K562	blood:
4	chr12:122795079..122797020-chr12:122799854..122802768,2	K562	blood:
5	chr12:122800426..122803308-chr12:122822108..122823618,2	K562	blood:
6	chr12:122800308..122802580-chr12:122806199..122807965,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs58583917	0.83[AMR][1000 genomes]
rs73404006	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404008	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73404013	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404014	1.00[AMR][1000 genomes]
rs73404020	0.89[AFR][1000 genomes]
rs73404031	0.87[AFR][1000 genomes]
rs73404040	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404045	0.89[AFR][1000 genomes]
rs73404046	0.89[AFR][1000 genomes]
rs73421716	0.81[AFR][1000 genomes]
rs73421737	0.87[AFR][1000 genomes]
rs73421739	0.87[AFR][1000 genomes]
rs73421744	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73421747	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73421753	0.94[AFR][1000 genomes]
rs7972230	0.91[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	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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122751600-122803400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:122752000-122802600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr12:122752400-122810400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr12:122754600-122822400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr12:122763600-122812000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:122765800-122803400	Weak transcription	K562	blood
7	chr12:122770200-122821600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr12:122770400-122821800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:122775600-122833600	Strong transcription	Liver	Liver
10	chr12:122776000-122822200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:122778000-122808800	Weak transcription	Fetal Heart	heart
12	chr12:122780000-122827200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:122780400-122812000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:122780400-122812600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr12:122781400-122821400	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr12:122782800-122803400	Weak transcription	Colonic Mucosa	Colon
17	chr12:122782800-122803800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr12:122785800-122827200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:122786200-122803200	Strong transcription	Stomach Smooth Muscle	stomach
20	chr12:122787000-122803800	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr12:122787200-122809000	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr12:122787400-122803600	Weak transcription	Stomach Mucosa	stomach
23	chr12:122787800-122804400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:122788200-122821200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr12:122790000-122810800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:122791200-122841600	Strong transcription	Placenta	Placenta
27	chr12:122792400-122819800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:122793400-122810600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:122794600-122811800	Weak transcription	Small Intestine	intestine
30	chr12:122794600-122832600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:122795400-122803000	Strong transcription	Adipose Nuclei	Adipose
32	chr12:122795600-122810600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr12:122795800-122818200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr12:122796000-122802800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:122796200-122803400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr12:122796200-122808600	Strong transcription	Fetal Muscle Trunk	muscle
37	chr12:122796400-122804000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:122796600-122804000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:122796800-122802600	Strong transcription	Placenta Amnion	Placenta Amnion
40	chr12:122796800-122804200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr12:122796800-122808600	Strong transcription	Fetal Stomach	stomach
42	chr12:122797000-122803800	Strong transcription	Lung	lung
43	chr12:122797000-122808800	Strong transcription	Fetal Intestine Small	intestine
44	chr12:122797200-122805200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr12:122797200-122814000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:122797200-122822400	Strong transcription	Fetal Muscle Leg	muscle
47	chr12:122797400-122802400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr12:122797400-122803400	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr12:122797400-122804200	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr12:122797400-122808600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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