Variant report

Variant	rs56322312
Chromosome Location	chr1:56991890-56991891
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs17114036	0.95[EUR][1000 genomes]
rs17114046	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2404715	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4634932	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55694910	0.85[EUR][1000 genomes]
rs55869368	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56170783	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56186267	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56348932	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72664303	0.82[EUR][1000 genomes]
rs72664304	0.82[EUR][1000 genomes]
rs72664318	0.95[EUR][1000 genomes]
rs72664324	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72664332	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72664335	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72664341	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72664353	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72664354	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72664355	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72664358	0.91[ASN][1000 genomes]
rs9970807	0.98[EUR][1000 genomes];0.90[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:108 , 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	chr1:56976800-56992400	Weak transcription	Brain Germinal Matrix	brain
3	chr1:56977800-56999200	Weak transcription	A549	lung
4	chr1:56978000-56992600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:56979200-56992600	Strong transcription	HepG2	liver
6	chr1:56983200-56992400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:56983400-56992200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:56983400-57000800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:56984200-56992000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:56984200-56992200	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:56984200-56992400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:56985000-56993400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:56985000-56993600	Weak transcription	Fetal Brain Female	brain
14	chr1:56986200-56992600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:56986800-56992000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
16	chr1:56987000-57015000	Genic enhancers	NHDF-Ad	bronchial
17	chr1:56987600-56994200	Enhancers	Dnd41	blood
18	chr1:56987800-56993000	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr1:56988400-56992800	Enhancers	Right Atrium	heart
20	chr1:56988400-56993800	Enhancers	Primary B cells from peripheral blood	blood
21	chr1:56988800-56992000	Weak transcription	Fetal Heart	heart
22	chr1:56988800-56992200	Strong transcription	Fetal Muscle Trunk	muscle
23	chr1:56989400-56993600	Enhancers	Primary B cells from cord blood	blood
24	chr1:56989600-56992400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr1:56989800-56992400	Weak transcription	NH-A	brain
26	chr1:56990000-56992600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:56990000-56995200	Genic enhancers	Fetal Muscle Leg	muscle
28	chr1:56990000-57004000	Genic enhancers	Liver	Liver
29	chr1:56990200-56992000	Enhancers	Spleen	Spleen
30	chr1:56990200-56992400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:56990200-56992400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr1:56990200-56992400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr1:56990200-56992800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:56990200-56993600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:56990200-56994400	Enhancers	Fetal Thymus	thymus
36	chr1:56990200-56998600	Enhancers	Brain Substantia Nigra	brain
37	chr1:56990400-56992400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr1:56990400-56992400	Weak transcription	Ovary	ovary
39	chr1:56990400-56993200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:56990400-56996200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr1:56990600-56992600	Enhancers	Primary hematopoietic stem cells	blood
42	chr1:56990600-56992600	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr1:56990600-56992600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:56990600-56992800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:56990600-56992800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
46	chr1:56990600-56994000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:56990600-56995400	Enhancers	Small Intestine	intestine
48	chr1:56990600-56996600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:56990600-56997800	Enhancers	Brain Anterior Caudate	brain
50	chr1:56990800-56993200	Genic enhancers	HSMM	muscle

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