Variant report

Variant	rs56124216
Chromosome Location	chr1:183998122-183998123
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:183943940..183946448-chr1:183997966..184000814,2	K562	blood:
2	chr1:183996561..183999436-chr1:184003506..184005504,2	MCF-7	breast:
3	chr1:183907178..183909194-chr1:183997885..184000695,2	K562	blood:
4	chr1:183947733..183950013-chr1:183997386..184000802,4	K562	blood:
5	chr1:183996674..183999449-chr1:184721278..184723656,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs55734904	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57744980	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59701007	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60210878	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60591205	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60616956	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74130994	0.91[AMR][1000 genomes]
rs74130996	0.91[AMR][1000 genomes]
rs74130998	0.91[AMR][1000 genomes]
rs74130999	0.91[AMR][1000 genomes]
rs74131000	0.82[AMR][1000 genomes]
rs74131001	0.91[AMR][1000 genomes]
rs74132762	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74132763	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74132764	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74132768	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74132769	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74132770	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74132771	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74132773	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74132774	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74132775	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74132776	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74132777	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74132778	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74133803	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74133804	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv533206	chr1:183861204-184091272	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1006655	chr1:183922288-184186677	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv872583	chr1:183955574-184015663	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:183985600-184002800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr1:183986200-184001000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:183988400-184003200	Enhancers	Brain Cingulate Gyrus	brain
4	chr1:183988400-184003400	Enhancers	Brain Substantia Nigra	brain
5	chr1:183989200-183999600	Enhancers	Brain Anterior Caudate	brain
6	chr1:183989600-183998600	Enhancers	Colon Smooth Muscle	Colon
7	chr1:183989600-184000000	Enhancers	Fetal Heart	heart
8	chr1:183990400-183998200	Enhancers	Fetal Lung	lung
9	chr1:183992600-183998400	Weak transcription	Left Ventricle	heart
10	chr1:183992800-184005200	Weak transcription	Gastric	stomach
11	chr1:183993600-184003200	Enhancers	Brain Angular Gyrus	brain
12	chr1:183995000-183998200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:183995000-183998400	Weak transcription	Pancreas	Pancrea
14	chr1:183995000-183998600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr1:183995000-183999600	Weak transcription	NHDF-Ad	bronchial
16	chr1:183995200-183999400	Weak transcription	HSMMtube	muscle
17	chr1:183995200-184002400	Weak transcription	NHLF	lung
18	chr1:183995400-183998400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr1:183995400-184002400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:183995400-184005000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:183996000-183998600	Enhancers	Fetal Stomach	stomach
22	chr1:183996000-184000200	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr1:183996200-183999000	Enhancers	Fetal Muscle Leg	muscle
24	chr1:183996200-184000000	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr1:183996400-183998200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:183996400-183999800	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr1:183996600-183999800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:183997000-183998200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:183997000-183998600	Enhancers	Rectal Smooth Muscle	rectum
30	chr1:183997200-183998600	Weak transcription	Esophagus	oesophagus
31	chr1:183997200-184000600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:183997400-183998400	Weak transcription	Right Atrium	heart
33	chr1:183997400-183998600	Enhancers	Stomach Mucosa	stomach
34	chr1:183997400-183998800	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr1:183997400-184001600	Weak transcription	Osteobl	bone
36	chr1:183997600-183999600	Weak transcription	Brain Germinal Matrix	brain
37	chr1:183997600-184000200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:183997600-184002200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:183997600-184005000	Weak transcription	Psoas Muscle	Psoas
40	chr1:183997600-184005400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:183997800-183999400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:183997800-184001600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:183997800-184003000	Enhancers	Brain Hippocampus Middle	brain
44	chr1:183998000-183998200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
45	chr1:183998000-183998600	Enhancers	K562	blood
46	chr1:183998000-184005000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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