Variant report

Variant	rs192953725
Chromosome Location	chr1:10250385-10250386
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527217	chr1:10093457-10257167	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv3356570	chr1:10249482-10252272	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
5	esv3357571	chr1:10249482-10252272	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10231200-10251600	Weak transcription	Right Atrium	heart
2	chr1:10233200-10258200	Weak transcription	Hela-S3	cervix
3	chr1:10236400-10258200	Weak transcription	HSMM	muscle
4	chr1:10240000-10255400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:10241000-10252200	Weak transcription	HepG2	liver
6	chr1:10241000-10252400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:10241000-10254000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:10241000-10254200	Weak transcription	Brain Anterior Caudate	brain
9	chr1:10241000-10254200	Weak transcription	Brain Hippocampus Middle	brain
10	chr1:10241000-10254200	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:10241000-10254600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:10241000-10255600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:10241000-10257200	Weak transcription	Ovary	ovary
14	chr1:10241000-10258000	Weak transcription	Psoas Muscle	Psoas
15	chr1:10241200-10254000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:10241200-10254200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr1:10241200-10254200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:10241200-10259000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:10241400-10253400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr1:10241400-10255600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:10241600-10251600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr1:10241600-10254000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:10241600-10254000	Weak transcription	Osteobl	bone
24	chr1:10241800-10250400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:10241800-10254000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr1:10244200-10256800	Weak transcription	Fetal Stomach	stomach
27	chr1:10247000-10252400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:10247200-10252400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:10247200-10254200	Weak transcription	Fetal Kidney	kidney
30	chr1:10247200-10255400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:10248800-10253400	Weak transcription	Fetal Muscle Leg	muscle
32	chr1:10250000-10250800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:10250000-10261000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr1:10250000-10269800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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