Variant report

Variant	rs73128424
Chromosome Location	chr1:224423429-224423430
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr1:224423416-224424223	H1-hESC	embryonic stem cell:	n/a	chr1:224423914-224423928 chr1:224423916-224423927 chr1:224423915-224423926 chr1:224423915-224423926 chr1:224423916-224423927

Variant related genes	Relation type
NVL	TF binding region

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs6660074	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73128409	1.00[AFR][1000 genomes]
rs73128429	1.00[AMR][1000 genomes]
rs73128433	1.00[AMR][1000 genomes]
rs73128442	1.00[AMR][1000 genomes]
rs7514645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7541012	1.00[AMR][1000 genomes]
rs7553633	0.91[AFR][1000 genomes];1.00[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	nsv873223	chr1:224367232-224467117	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
2	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 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	chr1:224401800-224427600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:224401800-224475400	Weak transcription	Esophagus	oesophagus
3	chr1:224407600-224434000	Weak transcription	Fetal Brain Male	brain
4	chr1:224411600-224438000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:224411600-224454400	Weak transcription	Psoas Muscle	Psoas
6	chr1:224412000-224433000	Weak transcription	Fetal Heart	heart
7	chr1:224412200-224424800	Weak transcription	Stomach Mucosa	stomach
8	chr1:224412400-224473600	Weak transcription	HepG2	liver
9	chr1:224413200-224432600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr1:224413800-224428000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:224413800-224428200	Strong transcription	Fetal Muscle Trunk	muscle
12	chr1:224414000-224432200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:224414200-224424200	Strong transcription	Fetal Thymus	thymus
14	chr1:224414200-224425000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr1:224414200-224425000	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr1:224414200-224426200	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr1:224414200-224427800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:224414200-224427800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr1:224414200-224428800	Strong transcription	Fetal Intestine Large	intestine
20	chr1:224414200-224438000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:224414400-224424400	Strong transcription	Placenta	Placenta
22	chr1:224414400-224428800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:224414600-224426200	Strong transcription	Fetal Intestine Small	intestine
24	chr1:224415000-224436200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:224415000-224440000	Weak transcription	Fetal Kidney	kidney
26	chr1:224415600-224424200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:224415600-224426000	Weak transcription	Brain Substantia Nigra	brain
28	chr1:224415600-224426400	Strong transcription	Fetal Stomach	stomach
29	chr1:224415600-224432600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr1:224415600-224435000	Weak transcription	Gastric	stomach
31	chr1:224415800-224435600	Weak transcription	NHLF	lung
32	chr1:224415800-224435800	Weak transcription	Brain Angular Gyrus	brain
33	chr1:224416000-224423600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr1:224416000-224423800	Weak transcription	NHDF-Ad	bronchial
35	chr1:224416000-224426000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr1:224416000-224432800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr1:224416000-224436600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr1:224416000-224465600	Weak transcription	Small Intestine	intestine
39	chr1:224416200-224423800	Weak transcription	Aorta	Aorta
40	chr1:224416200-224433000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:224417000-224424200	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr1:224417200-224427600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:224417200-224427600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:224417400-224425000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr1:224417400-224426400	Strong transcription	Dnd41	blood
46	chr1:224417400-224427600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:224417400-224427800	Strong transcription	Primary T cells from cord blood	blood
48	chr1:224417400-224427800	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr1:224417600-224426800	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr1:224417800-224425400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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