Variant report

Variant	rs55887894
Chromosome Location	chr1:154894917-154894918
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:154894734..154897695-chr1:154923296..154925878,2	K562	blood:
2	chr1:154893687..154895770-chr1:154896585..154899299,2	K562	blood:
3	chr1:154892548..154895461-chr1:154971772..154973336,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10796935	0.86[AFR][1000 genomes]
rs10908448	0.85[AFR][1000 genomes]
rs11264286	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11264287	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11799384	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12406380	0.80[AFR][1000 genomes]
rs16836521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1976559	0.84[AFR][1000 genomes]
rs1977879	0.82[AFR][1000 genomes]
rs2174507	0.85[AFR][1000 genomes]
rs2211498	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34215800	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4240875	0.85[AFR][1000 genomes]
rs4339857	0.86[AFR][1000 genomes]
rs4845682	0.82[AFR][1000 genomes]
rs4845685	0.82[AFR][1000 genomes]
rs4845688	0.83[AFR][1000 genomes]
rs4845689	0.85[AFR][1000 genomes]
rs4845690	0.85[AFR][1000 genomes]
rs56720968	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6689022	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6696628	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7528532	0.84[AFR][1000 genomes]
rs7539805	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7543051	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7551495	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs906593	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	nsv427797	chr1:154559115-154933717	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv432942	chr1:154818353-154903047	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv464073	chr1:154837796-154904840	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv547960	chr1:154837796-154904840	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv2977	chr1:154881053-154907613	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154881600-154895800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:154882400-154897800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:154882800-154897400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:154883600-154895000	Weak transcription	Placenta	Placenta
5	chr1:154884000-154895200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr1:154884000-154897800	Weak transcription	HMEC	breast
7	chr1:154884800-154896200	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:154884800-154908400	Weak transcription	Psoas Muscle	Psoas
9	chr1:154885000-154895000	Weak transcription	Brain Anterior Caudate	brain
10	chr1:154885000-154895000	Weak transcription	Ovary	ovary
11	chr1:154885200-154895000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr1:154886000-154897200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:154886800-154895400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:154886800-154908200	Weak transcription	Fetal Heart	heart
15	chr1:154887600-154895200	Weak transcription	NHEK	skin
16	chr1:154889600-154895000	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:154889600-154895000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:154889600-154897200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr1:154889800-154900800	Weak transcription	HepG2	liver
20	chr1:154890000-154895000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:154890000-154895000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr1:154890000-154896200	Weak transcription	Colonic Mucosa	Colon
23	chr1:154891200-154895200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:154891200-154908600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:154891600-154897200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:154891600-154897800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:154891800-154896000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:154892400-154895000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:154892600-154898200	Strong transcription	Fetal Thymus	thymus
30	chr1:154892600-154903600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr1:154892600-154905400	Strong transcription	Fetal Muscle Leg	muscle
32	chr1:154892800-154895800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:154893000-154896200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:154893200-154896200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:154893200-154897000	Weak transcription	NHLF	lung
36	chr1:154893200-154902800	Strong transcription	Liver	Liver
37	chr1:154893200-154905600	Strong transcription	Stomach Smooth Muscle	stomach
38	chr1:154893200-154908200	Weak transcription	NH-A	brain
39	chr1:154893400-154895000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:154893400-154895000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr1:154893400-154896400	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr1:154893400-154897400	Weak transcription	Dnd41	blood
43	chr1:154893400-154901200	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr1:154893400-154902600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr1:154893400-154905600	Strong transcription	Fetal Stomach	stomach
46	chr1:154893600-154895800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:154893600-154895800	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr1:154893600-154895800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:154893600-154896000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:154893600-154898600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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