Variant report

Variant	rs73421716
Chromosome Location	chr12:122714780-122714781
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122711907..122714126-chr12:122714417..122716211,2	K562	blood:

Variant related genes	Relation type
ENSG00000184047	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs28439749	0.87[AFR][1000 genomes]
rs28536732	0.90[AFR][1000 genomes]
rs7304287	0.81[AFR][1000 genomes]
rs73404006	0.83[AFR][1000 genomes]
rs73404050	0.81[AFR][1000 genomes]
rs73421714	0.90[AFR][1000 genomes]
rs73421719	0.87[AFR][1000 genomes]
rs73421753	0.86[AFR][1000 genomes]
rs7972230	0.89[AFR][1000 genomes];1.00[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	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122710600-122715000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:122710800-122716600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:122711400-122715000	Weak transcription	HSMMtube	muscle
4	chr12:122711400-122715200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:122711400-122715400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr12:122711400-122715600	Weak transcription	Fetal Kidney	kidney
7	chr12:122711400-122734200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:122711600-122715000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:122711600-122715000	Weak transcription	Hela-S3	cervix
10	chr12:122711600-122715200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:122711600-122715200	Weak transcription	Aorta	Aorta
12	chr12:122711600-122715200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr12:122711600-122715200	Weak transcription	HepG2	liver
14	chr12:122711600-122715400	Weak transcription	Osteobl	bone
15	chr12:122711600-122715800	Weak transcription	Fetal Heart	heart
16	chr12:122711600-122718000	Weak transcription	A549	lung
17	chr12:122711600-122720200	Weak transcription	HUVEC	blood vessel
18	chr12:122711600-122721800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:122711800-122715000	Weak transcription	Brain Angular Gyrus	brain
20	chr12:122711800-122715000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr12:122711800-122715000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr12:122711800-122715200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr12:122711800-122715200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:122711800-122715200	Weak transcription	Brain Anterior Caudate	brain
25	chr12:122711800-122715200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr12:122711800-122715200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr12:122711800-122715200	Weak transcription	Gastric	stomach
28	chr12:122711800-122715200	Weak transcription	GM12878-XiMat	blood
29	chr12:122711800-122715200	Weak transcription	NH-A	brain
30	chr12:122711800-122715400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr12:122711800-122715400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr12:122711800-122715400	Weak transcription	Fetal Lung	lung
33	chr12:122711800-122715800	Weak transcription	Right Atrium	heart
34	chr12:122711800-122716600	Weak transcription	NHDF-Ad	bronchial
35	chr12:122711800-122718400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr12:122711800-122719000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr12:122711800-122720200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr12:122711800-122720200	Weak transcription	Small Intestine	intestine
39	chr12:122711800-122734400	Weak transcription	Stomach Mucosa	stomach
40	chr12:122711800-122734800	Weak transcription	Fetal Brain Male	brain
41	chr12:122711800-122749600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:122711800-122749600	Weak transcription	Psoas Muscle	Psoas
43	chr12:122712000-122715000	Weak transcription	Brain Substantia Nigra	brain
44	chr12:122712000-122715200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr12:122712000-122715200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr12:122712000-122715200	Weak transcription	Brain Germinal Matrix	brain
47	chr12:122712000-122715200	Weak transcription	Colon Smooth Muscle	Colon
48	chr12:122712000-122715200	Weak transcription	Pancreas	Pancrea
49	chr12:122712000-122715200	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr12:122712000-122715400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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