Variant report

Variant	rs538514911
Chromosome Location	chr1:223018263-223018264
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription 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	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv873206	chr1:222985197-223124916	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv1833087	chr1:223017325-223023604	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
6	esv1840619	chr1:223017325-223023604	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
7	esv1840763	chr1:223017325-223023604	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
8	nsv442589	chr1:223017325-223023604	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222989400-223026800	Weak transcription	Fetal Muscle Leg	muscle
2	chr1:222990400-223027400	Weak transcription	Primary B cells from cord blood	blood
3	chr1:223002600-223019800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:223010800-223027600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr1:223013600-223030800	Weak transcription	Ovary	ovary
6	chr1:223016000-223018400	Enhancers	Stomach Mucosa	stomach
7	chr1:223016800-223018400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:223016800-223018400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr1:223016800-223018400	Enhancers	A549	lung
10	chr1:223016800-223019400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr1:223017000-223018400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr1:223017000-223018600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr1:223017000-223018800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:223017000-223019200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr1:223017200-223018400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr1:223017400-223018400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:223017400-223019800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:223017600-223019400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr1:223017600-223042400	Weak transcription	Colon Smooth Muscle	Colon
20	chr1:223017800-223018600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr1:223018000-223018400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:223018000-223018400	Enhancers	NHDF-Ad	bronchial
23	chr1:223018200-223018400	Enhancers	Brain Anterior Caudate	brain
24	chr1:223018200-223018600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:223018200-223019200	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr1:223018200-223029600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:223018200-223029800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:223018200-223031000	Weak transcription	Fetal Kidney	kidney

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