Variant report

Variant	rs73404040
Chromosome Location	chr12:122794576-122794577
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs57742919	0.89[ASN][1000 genomes]
rs58583917	0.83[AMR][1000 genomes]
rs73404006	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404008	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73404013	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404014	1.00[AMR][1000 genomes]
rs73404020	0.86[AFR][1000 genomes]
rs73404031	0.89[AFR][1000 genomes]
rs73404045	0.86[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs73404046	0.86[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs73404050	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73421737	0.84[AFR][1000 genomes]
rs73421739	0.84[AFR][1000 genomes]
rs73421744	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73421747	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73421753	0.91[AFR][1000 genomes]
rs7972230	0.88[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:120 , 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	chr12:122752000-122800600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:122752000-122802600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:122752400-122810400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr12:122754600-122822400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr12:122763600-122812000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:122765800-122803400	Weak transcription	K562	blood
8	chr12:122770200-122821600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr12:122770400-122821800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:122775600-122800600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:122775600-122833600	Strong transcription	Liver	Liver
12	chr12:122776000-122822200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:122778000-122808800	Weak transcription	Fetal Heart	heart
14	chr12:122779400-122795400	Strong transcription	Skeletal Muscle Female	skeletal muscle
15	chr12:122780000-122794800	Strong transcription	Adipose Nuclei	Adipose
16	chr12:122780000-122827200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:122780400-122799200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr12:122780400-122812000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr12:122780400-122812600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr12:122780800-122800800	Weak transcription	Fetal Lung	lung
21	chr12:122781400-122821400	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr12:122782800-122803400	Weak transcription	Colonic Mucosa	Colon
23	chr12:122782800-122803800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr12:122784000-122797400	Weak transcription	Pancreas	Pancrea
25	chr12:122784000-122798800	Weak transcription	HepG2	liver
26	chr12:122785800-122794600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:122785800-122794600	Strong transcription	Fetal Muscle Leg	muscle
28	chr12:122785800-122827200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr12:122786000-122794600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr12:122786000-122795600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:122786200-122794800	Strong transcription	A549	lung
32	chr12:122786200-122795800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:122786200-122803200	Strong transcription	Stomach Smooth Muscle	stomach
34	chr12:122787000-122797800	Strong transcription	Primary B cells from cord blood	blood
35	chr12:122787000-122803800	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr12:122787200-122809000	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr12:122787400-122794600	Strong transcription	Brain Germinal Matrix	brain
38	chr12:122787400-122803600	Weak transcription	Stomach Mucosa	stomach
39	chr12:122787600-122794600	Strong transcription	Fetal Muscle Trunk	muscle
40	chr12:122787600-122794800	Strong transcription	Fetal Intestine Large	intestine
41	chr12:122787600-122795000	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr12:122787800-122794600	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr12:122787800-122795400	Strong transcription	Primary B cells from peripheral blood	blood
44	chr12:122787800-122804400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:122788000-122794600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:122788000-122794600	Strong transcription	Rectal Smooth Muscle	rectum
47	chr12:122788200-122799000	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr12:122788200-122799200	Weak transcription	Brain Substantia Nigra	brain
49	chr12:122788200-122821200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr12:122789400-122797400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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