Variant report

Variant	rs527581247
Chromosome Location	chr1:114659152-114659153
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:114657959..114660485-chr1:114662733..114665313,2	K562	blood:
2	chr1:114657028..114661761-chr1:114663955..114667421,5	MCF-7	breast:
3	chr1:114656303..114663278-chr1:114663805..114668148,7	MCF-7	breast:
4	chr1:114657401..114660243-chr1:114668370..114670843,2	MCF-7	breast:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv1849780	chr1:114577463-114663164	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2752948	chr1:114658958-114751958	Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114630400-114675800	Weak transcription	Pancreas	Pancrea
2	chr1:114632200-114661000	Weak transcription	Brain Germinal Matrix	brain
3	chr1:114648800-114661600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:114649400-114661000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:114650800-114666000	Weak transcription	Brain Hippocampus Middle	brain
6	chr1:114652000-114660600	Weak transcription	Fetal Lung	lung
7	chr1:114654800-114661600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr1:114655600-114659200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:114655600-114660600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:114655800-114659800	Weak transcription	Fetal Muscle Leg	muscle
11	chr1:114655800-114660000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:114655800-114662200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr1:114655800-114683800	Weak transcription	Right Atrium	heart
14	chr1:114656600-114661200	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:114656800-114660600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:114656800-114660800	Strong transcription	H9 Cell Line	embryonic stem cell
17	chr1:114657000-114659800	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr1:114657200-114659400	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:114657200-114659800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:114657200-114660600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr1:114657200-114660800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:114657200-114661000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:114657200-114661600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:114657200-114661800	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr1:114657400-114659400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:114657400-114660600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr1:114657600-114665600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:114657600-114665800	Weak transcription	Brain Anterior Caudate	brain
29	chr1:114657800-114660000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr1:114657800-114661600	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr1:114658200-114666200	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:114658600-114661600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:114658800-114659400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr1:114658800-114660200	Strong transcription	Fetal Brain Female	brain
35	chr1:114658800-114660600	Weak transcription	Primary hematopoietic stem cells	blood
36	chr1:114658800-114661200	Genic enhancers	HUES6 Cell Line	embryonic stem cell

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