Variant report

Variant	rs200032539
Chromosome Location	chr1:192970618-192970619
allele	A/T
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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv999499	chr1:192909529-192998421	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv535252	chr1:192909529-192998421	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv998429	chr1:192961698-193050515	Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1002094	chr1:192968080-193084045	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	esv3326314	chr1:192970085-192970635	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3334068	chr1:192970104-192970663	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv498699	chr1:192970436-192993624	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192938000-192972800	Weak transcription	Psoas Muscle	Psoas
2	chr1:192953600-192982400	Weak transcription	HSMMtube	muscle
3	chr1:192954200-192991200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr1:192954800-192978800	Weak transcription	Right Ventricle	heart
5	chr1:192955800-192972400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr1:192955800-192990600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr1:192956200-192972000	Weak transcription	Brain Anterior Caudate	brain
8	chr1:192956200-192988400	Weak transcription	Brain Hippocampus Middle	brain
9	chr1:192961200-192983600	Weak transcription	Hela-S3	cervix
10	chr1:192961400-192976000	Weak transcription	HepG2	liver
11	chr1:192961800-192976200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:192962600-192986400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr1:192963000-192982000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:192963600-192983000	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr1:192963800-192972000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:192963800-192972000	Weak transcription	Adipose Nuclei	Adipose
17	chr1:192963800-192972600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:192963800-192973200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr1:192963800-192974800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr1:192963800-192981400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:192963800-192981600	Weak transcription	NHLF	lung
22	chr1:192963800-192982000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr1:192963800-192982200	Weak transcription	Aorta	Aorta
24	chr1:192963800-192983000	Weak transcription	NH-A	brain
25	chr1:192963800-192990000	Weak transcription	HMEC	breast
26	chr1:192963800-192994400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr1:192963800-192996200	Weak transcription	Fetal Lung	lung
28	chr1:192963800-193012400	Weak transcription	NHEK	skin
29	chr1:192963800-193019600	Weak transcription	Ovary	ovary
30	chr1:192964000-192971400	Weak transcription	Liver	Liver
31	chr1:192964000-192972600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr1:192964000-192973400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:192964000-192975000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr1:192964000-192977200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr1:192964000-192981000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:192964000-192981800	Weak transcription	HSMM	muscle
37	chr1:192964000-192983000	Weak transcription	Fetal Thymus	thymus
38	chr1:192964000-192984600	Weak transcription	Primary B cells from cord blood	blood
39	chr1:192964000-192990400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:192964000-192994400	Weak transcription	Left Ventricle	heart
41	chr1:192965000-192990800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:192966200-192971000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:192966200-192994200	Weak transcription	Primary T cells from cord blood	blood
44	chr1:192966400-192970800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:192966400-192976800	Weak transcription	A549	lung
46	chr1:192966400-192985200	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr1:192967200-192970800	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr1:192967200-192983600	Weak transcription	HUVEC	blood vessel
49	chr1:192967600-192982800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr1:192967600-192993000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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