Variant report

Variant	rs55727989
Chromosome Location	chr1:212845246-212845247
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212842539..212844164-chr1:212844628..212846404,2	K562	blood:
2	chr1:212843284..212846288-chr1:212848172..212851141,3	K562	blood:
3	chr1:212835945..212838280-chr1:212843427..212846300,4	K562	blood:
4	chr1:212839024..212843211-chr1:212844432..212848358,3	K562	blood:
5	chr1:212844788..212847295-chr1:212849641..212851395,3	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11571523	1.00[AMR][1000 genomes]
rs11571525	1.00[AMR][1000 genomes]
rs11571531	1.00[AMR][1000 genomes]
rs41296670	1.00[AMR][1000 genomes]
rs56059979	1.00[AMR][1000 genomes]
rs58964221	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	nsv428588	chr1:212705588-212862875	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
5	esv1829918	chr1:212828460-212874731	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212839200-212845400	Enhancers	Placenta	Placenta
2	chr1:212839200-212845600	Enhancers	Fetal Muscle Leg	muscle
3	chr1:212840400-212846400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr1:212842200-212845600	Weak transcription	Right Atrium	heart
5	chr1:212842200-212854400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:212843800-212845600	Enhancers	Primary hematopoietic stem cells	blood
7	chr1:212843800-212845600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr1:212844000-212845400	Enhancers	Primary B cells from peripheral blood	blood
9	chr1:212844000-212845400	Enhancers	Brain Hippocampus Middle	brain
10	chr1:212844000-212845400	Enhancers	Fetal Thymus	thymus
11	chr1:212844000-212845600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:212844200-212845400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:212844200-212845400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:212844200-212845400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:212844200-212845400	Enhancers	Brain Angular Gyrus	brain
16	chr1:212844200-212845400	Enhancers	Brain Cingulate Gyrus	brain
17	chr1:212844200-212845600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:212844200-212845600	Enhancers	A549	lung
19	chr1:212844200-212845600	Enhancers	HSMM	muscle
20	chr1:212844400-212845400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:212844400-212845400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr1:212844400-212845400	Enhancers	HMEC	breast
23	chr1:212844400-212845600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr1:212844600-212845400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr1:212844600-212845400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr1:212844600-212845400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:212844600-212845400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:212844600-212845400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:212844600-212845400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr1:212844600-212845400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:212844600-212845400	Bivalent Enhancer	Primary B cells from cord blood	blood
32	chr1:212844600-212845400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr1:212844600-212845400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:212844600-212845400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:212844600-212845400	Enhancers	Brain Germinal Matrix	brain
36	chr1:212844600-212845400	Enhancers	Lung	lung
37	chr1:212844600-212845400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
38	chr1:212844600-212845400	Enhancers	HSMMtube	muscle
39	chr1:212844600-212845400	Flanking Active TSS	Osteobl	bone
40	chr1:212844600-212845600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:212844600-212845600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:212844600-212845600	Enhancers	Placenta Amnion	Placenta Amnion
43	chr1:212844600-212846000	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr1:212844600-212846200	Enhancers	H9 Cell Line	embryonic stem cell
45	chr1:212844800-212845400	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr1:212844800-212845400	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr1:212844800-212845400	Enhancers	Fetal Brain Male	brain
48	chr1:212844800-212845400	Enhancers	Fetal Muscle Trunk	muscle
49	chr1:212844800-212845400	Enhancers	NHLF	lung
50	chr1:212844800-212845600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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