Variant report

Variant	rs558369430
Chromosome Location	chr1:47490230-47490231
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47489896..47492133-chr1:47492275..47494697,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 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
13	nsv871080	chr1:47489786-47517123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised 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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47488800-47490400	Flanking Active TSS	Adipose Nuclei	Adipose
2	chr1:47488800-47490400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:47488800-47490600	Active TSS	Brain Anterior Caudate	brain
4	chr1:47489000-47490400	Active TSS	Aorta	Aorta
5	chr1:47489000-47490400	Active TSS	Brain Angular Gyrus	brain
6	chr1:47489000-47490400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
7	chr1:47489200-47490400	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr1:47489200-47490800	Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr1:47489800-47490400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
10	chr1:47489800-47490400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
11	chr1:47489800-47490400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:47489800-47490600	Bivalent Enhancer	Fetal Brain Male	brain
13	chr1:47489800-47490600	Weak transcription	Gastric	stomach
14	chr1:47490000-47490400	Enhancers	H9 Cell Line	embryonic stem cell
15	chr1:47490000-47490400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:47490000-47490400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
17	chr1:47490000-47490400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:47490000-47490600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:47490000-47490600	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:47490000-47490800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:47490000-47491000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
22	chr1:47490000-47491400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:47490000-47491600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:47490000-47496600	Weak transcription	Esophagus	oesophagus
25	chr1:47490000-47496600	Weak transcription	Right Atrium	heart
26	chr1:47490200-47490400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
27	chr1:47490200-47490400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr1:47490200-47490400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
29	chr1:47490200-47490600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
30	chr1:47490200-47490600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr1:47490200-47491000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
32	chr1:47490200-47491000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
33	chr1:47490200-47491000	Bivalent Enhancer	Brain Hippocampus Middle	brain
34	chr1:47490200-47491000	Enhancers	Psoas Muscle	Psoas

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