Variant report

Variant	rs1810930
Chromosome Location	chr1:57000200-57000201
allele	A/T
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	POLR2A	chr1:56999856-57001768	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr1:56999993-57001990	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr1:56998973-57004163	HepG2	liver:	n/a	n/a
4	RUNX3	chr1:56999928-57000218	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:56996284..56998415-chr1:56998780..57000786,2	MCF-7	breast:
2	chr1:56998583..57000958-chr1:57003015..57004640,2	K562	blood:

Variant related genes	Relation type
RPL21P23	TF binding region
ENSG00000236776	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10888977	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs11206833	0.83[EUR][1000 genomes]
rs12082242	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1759750	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1759752	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1777274	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1777277	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1930762	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4532850	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4912377	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs55798508	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7529520	0.88[EUR][1000 genomes]
rs7535757	0.93[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7556056	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs953856	0.86[AFR][1000 genomes]
rs993075	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56967000-57002000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:56983400-57000800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:56987000-57015000	Genic enhancers	NHDF-Ad	bronchial
4	chr1:56990000-57004000	Genic enhancers	Liver	Liver
5	chr1:56992000-57001200	Weak transcription	Spleen	Spleen
6	chr1:56992800-57011200	Weak transcription	Stomach Mucosa	stomach
7	chr1:56993000-57004600	Weak transcription	Hela-S3	cervix
8	chr1:56993200-57001400	Enhancers	Right Atrium	heart
9	chr1:56993600-57007800	Weak transcription	Primary B cells from cord blood	blood
10	chr1:56993800-57004200	Weak transcription	NH-A	brain
11	chr1:56994000-57001200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:56994000-57004000	Weak transcription	HUVEC	blood vessel
13	chr1:56994000-57012400	Weak transcription	Fetal Brain Male	brain
14	chr1:56994000-57012800	Weak transcription	Fetal Brain Female	brain
15	chr1:56994200-57001200	Weak transcription	Dnd41	blood
16	chr1:56994200-57004400	Strong transcription	Muscle Satellite Cultured Cells	--
17	chr1:56994400-57002600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:56995000-57003400	Strong transcription	Fetal Muscle Trunk	muscle
19	chr1:56995000-57003600	Strong transcription	Osteobl	bone
20	chr1:56995200-57003800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:56995600-57004600	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:56995800-57004000	Genic enhancers	HepG2	liver
23	chr1:56996000-57001200	Enhancers	Right Ventricle	heart
24	chr1:56996000-57002800	Genic enhancers	HUES64 Cell Line	embryonic stem cell
25	chr1:56996200-57003000	Genic enhancers	H1 Cell Line	embryonic stem cell
26	chr1:56996200-57003000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
27	chr1:56996200-57003000	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr1:56996400-57000200	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:56996600-57004000	Strong transcription	HSMM	muscle
30	chr1:56996600-57005200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:56996800-57000800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:56996800-57003000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:56997000-57001800	Genic enhancers	Adipose Nuclei	Adipose
34	chr1:56997000-57003400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:56997200-57002600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:56997200-57004600	Genic enhancers	Placenta	Placenta
37	chr1:56997400-57002600	Strong transcription	Lung	lung
38	chr1:56997400-57002800	Strong transcription	Placenta Amnion	Placenta Amnion
39	chr1:56997600-57000600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:56997600-57002000	Genic enhancers	Fetal Thymus	thymus
41	chr1:56997600-57004400	Genic enhancers	Fetal Muscle Leg	muscle
42	chr1:56997800-57002600	Genic enhancers	Brain Anterior Caudate	brain
43	chr1:56997800-57003600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
44	chr1:56998000-57000200	Genic enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr1:56998000-57000400	Genic enhancers	NHLF	lung
46	chr1:56998000-57002800	Genic enhancers	Left Ventricle	heart
47	chr1:56998400-57000600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr1:56998400-57000800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:56998600-57000200	Enhancers	GM12878-XiMat	blood
50	chr1:56998600-57000600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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