Variant report

Variant	rs573054526
Chromosome Location	chr1:227820236-227820237
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv873246	chr1:227694948-227884465	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1007479	chr1:227695868-227984466	Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	esv3327012	chr1:227741102-227890968	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv945342	chr1:227819395-227829907	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 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	chr1:227770000-227853800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:227790400-227834800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:227800200-227820600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr1:227801200-227821800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr1:227805800-227823600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:227811800-227830600	ZNF genes & repeats	Liver	Liver
7	chr1:227815200-227828800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:227815400-227820800	Weak transcription	Ovary	ovary
9	chr1:227817400-227821200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
10	chr1:227818600-227822200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
11	chr1:227818600-227822600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:227818600-227830600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
13	chr1:227818600-227834200	ZNF genes & repeats	Fetal Brain Female	brain
14	chr1:227818800-227822800	ZNF genes & repeats	Primary B cells from cord blood	blood
15	chr1:227819000-227822400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:227819400-227823800	ZNF genes & repeats	Fetal Muscle Leg	muscle
17	chr1:227819800-227822000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
18	chr1:227819800-227825200	ZNF genes & repeats	Aorta	Aorta
19	chr1:227819800-227837600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:227820000-227821000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
21	chr1:227820000-227822000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:227820000-227822200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:227820000-227822800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:227820000-227822800	ZNF genes & repeats	Lung	lung
25	chr1:227820000-227823600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
26	chr1:227820000-227823800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
27	chr1:227820000-227823800	ZNF genes & repeats	Fetal Intestine Small	intestine
28	chr1:227820000-227829200	ZNF genes & repeats	Fetal Stomach	stomach
29	chr1:227820200-227820400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
30	chr1:227820200-227821000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
31	chr1:227820200-227821000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
32	chr1:227820200-227821000	ZNF genes & repeats	Fetal Intestine Large	intestine
33	chr1:227820200-227821400	Weak transcription	Colonic Mucosa	Colon
34	chr1:227820200-227822600	ZNF genes & repeats	Brain Germinal Matrix	brain
35	chr1:227820200-227830400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
36	chr1:227820200-227831400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum

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