Variant report

Variant	rs571338431
Chromosome Location	chr2:167467379-167467380
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532474	chr2:166993501-167548531	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv529384	chr2:167143465-167958752	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2752480	chr2:167163493-167567493	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv961525	chr2:167467300-167471738	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:167464800-167467600	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr2:167465200-167467400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr2:167465400-167467400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:167465600-167469800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:167465600-167470400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:167465800-167470600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:167466000-167467400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:167466200-167467400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:167466200-167467600	Active TSS	Stomach Smooth Muscle	stomach
10	chr2:167466200-167468000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:167466400-167467400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:167466400-167467600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:167466400-167468000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr2:167466600-167467400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:167466600-167467400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr2:167466600-167467400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:167466600-167467400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr2:167466600-167467400	Enhancers	Brain Germinal Matrix	brain
19	chr2:167466600-167467400	Active TSS	Colon Smooth Muscle	Colon
20	chr2:167466600-167467400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
21	chr2:167466600-167467400	Active TSS	Osteobl	bone
22	chr2:167466600-167467600	Active TSS	Right Ventricle	heart
23	chr2:167466800-167467400	Enhancers	H1 Cell Line	embryonic stem cell
24	chr2:167466800-167467400	Flanking Active TSS	Fetal Thymus	thymus
25	chr2:167466800-167467600	Active TSS	Thymus	Thymus
26	chr2:167467000-167467400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
27	chr2:167467000-167467400	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr2:167467000-167467400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:167467000-167467400	Enhancers	Primary B cells from peripheral blood	blood
30	chr2:167467000-167467400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:167467000-167467400	Active TSS	Adipose Nuclei	Adipose
32	chr2:167467000-167467400	Enhancers	Fetal Brain Male	brain
33	chr2:167467000-167467400	Flanking Active TSS	Fetal Brain Female	brain
34	chr2:167467000-167467400	Flanking Active TSS	Fetal Muscle Leg	muscle
35	chr2:167467000-167467400	Active TSS	Rectal Smooth Muscle	rectum
36	chr2:167467000-167467800	Active TSS	Fetal Kidney	kidney
37	chr2:167467000-167468000	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr2:167467000-167470400	Weak transcription	Fetal Heart	heart
39	chr2:167467200-167467400	Active TSS	Primary B cells from cord blood	blood
40	chr2:167467200-167467400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
41	chr2:167467200-167467400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:167467200-167467400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:167467200-167467400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr2:167467200-167467400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
45	chr2:167467200-167467400	Enhancers	Psoas Muscle	Psoas
46	chr2:167467200-167467600	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr2:167467200-167467600	Active TSS	Primary T cells from cord blood	blood
48	chr2:167467200-167467600	Active TSS	Monocytes-CD14+_RO01746	blood
49	chr2:167467200-167470600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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