Variant report

Variant	rs61083533
Chromosome Location	chr1:153593757-153593758
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11486185	0.93[AFR][1000 genomes]
rs28444667	0.93[AFR][1000 genomes]
rs57058331	0.87[AFR][1000 genomes]
rs59005288	0.91[AFR][1000 genomes]
rs61296485	0.93[AFR][1000 genomes]
rs74115501	0.93[AFR][1000 genomes]
rs74118303	0.93[AFR][1000 genomes]
rs74118304	0.95[AFR][1000 genomes]
rs74118305	1.00[AFR][1000 genomes]
rs74118306	0.91[AFR][1000 genomes]
rs74118307	1.00[AFR][1000 genomes]
rs74118314	0.95[AFR][1000 genomes]
rs74118317	0.93[AFR][1000 genomes]
rs74118318	0.82[AFR][1000 genomes]
rs9700870	0.87[AFR][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	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
2	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153585600-153596400	Weak transcription	Brain Hippocampus Middle	brain
2	chr1:153585600-153597600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:153585600-153598800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:153585600-153599000	Weak transcription	Aorta	Aorta
5	chr1:153585800-153599200	Weak transcription	Fetal Brain Male	brain
6	chr1:153586000-153595600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:153586000-153596200	Weak transcription	Fetal Kidney	kidney
8	chr1:153586000-153598800	Weak transcription	Psoas Muscle	Psoas
9	chr1:153588600-153598800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:153589000-153596200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:153589200-153595200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:153589200-153599400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr1:153589400-153595400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:153589400-153596400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr1:153589400-153598600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:153589600-153597800	Weak transcription	HepG2	liver
17	chr1:153590000-153598600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr1:153590200-153596200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:153590400-153595000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:153590400-153596200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr1:153590400-153596200	Strong transcription	Osteobl	bone
22	chr1:153590400-153596400	Weak transcription	Liver	Liver
23	chr1:153590400-153596400	Weak transcription	Right Ventricle	heart
24	chr1:153590400-153596400	Weak transcription	Spleen	Spleen
25	chr1:153590400-153597800	Weak transcription	Right Atrium	heart
26	chr1:153590400-153598200	Weak transcription	Colonic Mucosa	Colon
27	chr1:153590400-153598200	Weak transcription	Pancreas	Pancrea
28	chr1:153590400-153598600	Weak transcription	Brain Anterior Caudate	brain
29	chr1:153590400-153598600	Weak transcription	Esophagus	oesophagus
30	chr1:153590400-153598600	Weak transcription	Gastric	stomach
31	chr1:153590400-153598600	Weak transcription	K562	blood
32	chr1:153590600-153595000	Weak transcription	HUVEC	blood vessel
33	chr1:153590600-153595200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:153590600-153595200	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr1:153590600-153595200	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr1:153590600-153595400	Weak transcription	Primary B cells from peripheral blood	blood
37	chr1:153590600-153596200	Weak transcription	Brain Substantia Nigra	brain
38	chr1:153590600-153596200	Strong transcription	Fetal Stomach	stomach
39	chr1:153590600-153596400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:153590600-153596400	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr1:153590600-153596600	Weak transcription	Fetal Heart	heart
42	chr1:153590600-153598000	Weak transcription	Small Intestine	intestine
43	chr1:153590600-153598600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr1:153590600-153599400	Weak transcription	Primary B cells from cord blood	blood
45	chr1:153590800-153595400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr1:153590800-153596200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr1:153590800-153598800	Weak transcription	Stomach Mucosa	stomach
48	chr1:153591000-153594800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:153591000-153594800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:153591000-153595000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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