Variant report

Variant	rs536043584
Chromosome Location	chr1:47489268-47489269
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871958	chr1:47350374-47517123	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1009338	chr1:47358532-47555253	Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2763300	chr1:47358532-47628774	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv870695	chr1:47363893-47502714	Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv871288	chr1:47363893-47507808	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv871377	chr1:47363893-47517123	Bivalent Enhancer ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv546166	chr1:47407739-47495605	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv870674	chr1:47416441-47517123	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv916813	chr1:47435635-47666179	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
10	nsv871717	chr1:47449486-47524264	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv461428	chr1:47487585-47524264	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv546167	chr1:47487585-47524264	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47488600-47489600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
2	chr1:47488800-47489400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
3	chr1:47488800-47489600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
4	chr1:47488800-47489800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
5	chr1:47488800-47490000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr1:47488800-47490000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:47488800-47490000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:47488800-47490000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:47488800-47490400	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr1:47488800-47490400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:47488800-47490600	Active TSS	Brain Anterior Caudate	brain
12	chr1:47489000-47489400	Enhancers	Liver	Liver
13	chr1:47489000-47489400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr1:47489000-47489400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
15	chr1:47489000-47489400	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
16	chr1:47489000-47489600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:47489000-47489800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr1:47489000-47489800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:47489000-47489800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:47489000-47489800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:47489000-47490000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
22	chr1:47489000-47490000	Active TSS	H9 Cell Line	embryonic stem cell
23	chr1:47489000-47490000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr1:47489000-47490000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
25	chr1:47489000-47490000	Active TSS	Psoas Muscle	Psoas
26	chr1:47489000-47490200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
27	chr1:47489000-47490200	Bivalent/Poised TSS	Fetal Brain Female	brain
28	chr1:47489000-47490200	Bivalent/Poised TSS	Fetal Kidney	kidney
29	chr1:47489000-47490200	Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr1:47489000-47490400	Active TSS	Aorta	Aorta
31	chr1:47489000-47490400	Active TSS	Brain Angular Gyrus	brain
32	chr1:47489000-47490400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
33	chr1:47489200-47489400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:47489200-47489400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:47489200-47489400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
36	chr1:47489200-47489400	Bivalent Enhancer	Placenta	Placenta
37	chr1:47489200-47489400	Bivalent Enhancer	Fetal Thymus	thymus
38	chr1:47489200-47489400	Bivalent/Poised TSS	Left Ventricle	heart
39	chr1:47489200-47489400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
40	chr1:47489200-47489400	Bivalent/Poised TSS	Thymus	Thymus
41	chr1:47489200-47489600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:47489200-47489600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:47489200-47489600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
44	chr1:47489200-47489600	Bivalent Enhancer	Fetal Brain Male	brain
45	chr1:47489200-47489600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
46	chr1:47489200-47489600	Active TSS	Ovary	ovary
47	chr1:47489200-47489800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:47489200-47489800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
49	chr1:47489200-47489800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr1:47489200-47489800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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