Variant report

Variant	rs573125667
Chromosome Location	chr2:148845087-148845088
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916286	chr2:148438001-148977722	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv529388	chr2:148471340-148934846	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1002358	chr2:148703807-148942372	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1007683	chr2:148717347-148942372	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv535971	chr2:148717347-148942372	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv869326	chr2:148727068-148859804	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv817366	chr2:148727068-148879681	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1000852	chr2:148730825-148934986	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv535972	chr2:148730825-148934986	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv916766	chr2:148743880-148955720	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv1001339	chr2:148755022-149020866	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv535977	chr2:148755022-149020866	Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv1014570	chr2:148780080-148869729	Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv535978	chr2:148780080-148869729	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv869146	chr2:148787051-149060763	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv535979	chr2:148822091-148859805	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv875276	chr2:148844369-148996824	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148805600-148846200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr2:148821200-148857600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr2:148826000-148861000	Weak transcription	Left Ventricle	heart
4	chr2:148834600-148856400	Weak transcription	HSMMtube	muscle
5	chr2:148836800-148853400	Weak transcription	NHDF-Ad	bronchial
6	chr2:148837000-148849200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:148837400-148853000	Weak transcription	HUVEC	blood vessel
8	chr2:148837600-148866800	Weak transcription	Ovary	ovary
9	chr2:148841200-148846600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:148841800-148845800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr2:148842200-148851600	Weak transcription	Fetal Heart	heart
12	chr2:148842400-148845600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:148843000-148853200	Weak transcription	Osteobl	bone
14	chr2:148843200-148853200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr2:148843600-148847800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:148843600-148860600	Weak transcription	Brain Hippocampus Middle	brain
17	chr2:148843800-148845200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:148843800-148845400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:148843800-148846200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr2:148843800-148846200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:148844000-148845200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
22	chr2:148844000-148845200	ZNF genes & repeats	Brain Germinal Matrix	brain
23	chr2:148844000-148845400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:148844000-148845400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
25	chr2:148844200-148845200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
26	chr2:148844200-148845400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:148844200-148845400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
28	chr2:148844200-148845400	ZNF genes & repeats	Fetal Brain Female	brain
29	chr2:148844200-148845400	ZNF genes & repeats	Fetal Muscle Leg	muscle
30	chr2:148844200-148845600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:148844400-148845400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:148844400-148845400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:148844600-148845200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:148844600-148845200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
35	chr2:148844600-148845200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:148844600-148845200	ZNF genes & repeats	Primary T cells from cord blood	blood
37	chr2:148844600-148845200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
38	chr2:148844600-148845200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:148844600-148845200	ZNF genes & repeats	Aorta	Aorta
40	chr2:148844600-148845200	ZNF genes & repeats	Liver	Liver
41	chr2:148844600-148845200	ZNF genes & repeats	Fetal Stomach	stomach
42	chr2:148844600-148845200	ZNF genes & repeats	Thymus	Thymus
43	chr2:148844600-148845400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:148844600-148845400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:148844600-148845400	ZNF genes & repeats	Fetal Lung	lung
46	chr2:148844800-148845200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:148844800-148845200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr2:148844800-148845200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
49	chr2:148844800-148845200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
50	chr2:148844800-148845200	ZNF genes & repeats	Fetal Kidney	kidney

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