Variant report

Variant	rs58487481
Chromosome Location	chr1:247504867-247504868
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:247503530..247505298-chr1:247518095..247520901,2	K562	blood:

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

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

rs_ID	r²[population]
rs12239403	1.00[EUR][1000 genomes]
rs56787665	1.00[EUR][1000 genomes]
rs6426228	1.00[EUR][1000 genomes]
rs73142632	1.00[AMR][1000 genomes]
rs74154604	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74154606	1.00[AMR][1000 genomes];1.00[EUR][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	nsv1005208	chr1:247037441-247597975	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv3411043	chr1:247382851-247517729	Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	n/a
3	esv3378684	chr1:247382994-247518438	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	n/a
4	nsv833137	chr1:247437317-247607428	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	n/a
5	nsv873439	chr1:247486736-247549220	Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247496400-247511000	Weak transcription	Primary B cells from cord blood	blood
2	chr1:247496600-247505800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:247496600-247506000	Weak transcription	HSMMtube	muscle
4	chr1:247496600-247511000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr1:247496800-247507200	Weak transcription	Fetal Intestine Large	intestine
6	chr1:247496800-247510200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:247497000-247511200	Weak transcription	Esophagus	oesophagus
8	chr1:247497200-247505800	Weak transcription	Brain Substantia Nigra	brain
9	chr1:247497200-247506200	Weak transcription	HMEC	breast
10	chr1:247497200-247509800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:247497200-247516000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:247497400-247511200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:247497400-247511400	Weak transcription	Primary T cells from cord blood	blood
14	chr1:247497800-247506400	Weak transcription	GM12878-XiMat	blood
15	chr1:247498800-247505200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:247499600-247506200	Weak transcription	HUVEC	blood vessel
17	chr1:247499600-247511000	Weak transcription	Adipose Nuclei	Adipose
18	chr1:247499600-247511200	Weak transcription	Brain Germinal Matrix	brain
19	chr1:247499800-247506200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:247499800-247510800	Weak transcription	Right Atrium	heart
21	chr1:247500000-247505800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:247500800-247506400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr1:247500800-247511800	Weak transcription	Fetal Kidney	kidney
24	chr1:247501000-247505200	Weak transcription	Brain Anterior Caudate	brain
25	chr1:247501000-247505800	Weak transcription	NHLF	lung
26	chr1:247501000-247506200	Weak transcription	Fetal Lung	lung
27	chr1:247501000-247510000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:247501400-247505000	Weak transcription	Brain Angular Gyrus	brain
29	chr1:247501400-247505400	Strong transcription	Fetal Stomach	stomach
30	chr1:247501400-247506000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr1:247501400-247511200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:247501600-247505000	Strong transcription	Fetal Thymus	thymus
33	chr1:247501600-247505600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr1:247501600-247537000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr1:247501800-247505400	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr1:247501800-247505400	Strong transcription	Fetal Muscle Leg	muscle
37	chr1:247502000-247505400	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:247502000-247508600	Weak transcription	Fetal Brain Male	brain
39	chr1:247502200-247505000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr1:247502200-247505200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:247502200-247505400	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr1:247502200-247506400	Strong transcription	Fetal Muscle Trunk	muscle
43	chr1:247502400-247505000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:247502600-247505200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:247502600-247505400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:247502600-247505400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:247502600-247505400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:247502600-247505400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:247502600-247505800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr1:247502600-247505800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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