Variant report

Variant	rs56152172
Chromosome Location	chr1:192963560-192963561
allele	C/T
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	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	nsv946551	chr1:192963235-192965650	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192938000-192972800	Weak transcription	Psoas Muscle	Psoas
2	chr1:192947000-192968800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:192948000-192966800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr1:192953600-192982400	Weak transcription	HSMMtube	muscle
5	chr1:192954200-192991200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr1:192954800-192978800	Weak transcription	Right Ventricle	heart
7	chr1:192955800-192972400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr1:192955800-192990600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr1:192956000-192965400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr1:192956000-192966600	Weak transcription	Dnd41	blood
11	chr1:192956000-192966800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr1:192956200-192972000	Weak transcription	Brain Anterior Caudate	brain
13	chr1:192956200-192988400	Weak transcription	Brain Hippocampus Middle	brain
14	chr1:192960000-192964000	Enhancers	Placenta	Placenta
15	chr1:192960400-192963600	Weak transcription	A549	lung
16	chr1:192960400-192967400	Weak transcription	Gastric	stomach
17	chr1:192961200-192983600	Weak transcription	Hela-S3	cervix
18	chr1:192961400-192968200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:192961400-192976000	Weak transcription	HepG2	liver
20	chr1:192961600-192967600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:192961800-192964400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr1:192961800-192976200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr1:192962000-192963600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr1:192962200-192963800	Strong transcription	NHEK	skin
25	chr1:192962600-192963800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
26	chr1:192962600-192964000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
27	chr1:192962600-192964000	ZNF genes & repeats	Primary B cells from cord blood	blood
28	chr1:192962600-192964800	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr1:192962600-192965000	Strong transcription	K562	blood
30	chr1:192962600-192986400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr1:192962800-192963600	ZNF genes & repeats	Fetal Brain Female	brain
32	chr1:192962800-192963800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:192962800-192963800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
34	chr1:192962800-192963800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:192962800-192963800	Strong transcription	Stomach Smooth Muscle	stomach
36	chr1:192962800-192963800	ZNF genes & repeats	GM12878-XiMat	blood
37	chr1:192962800-192963800	ZNF genes & repeats	NH-A	brain
38	chr1:192962800-192964000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:192962800-192964000	ZNF genes & repeats	Fetal Muscle Leg	muscle
40	chr1:192963000-192963800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:192963000-192963800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:192963000-192963800	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr1:192963000-192963800	Strong transcription	Pancreas	Pancrea
44	chr1:192963000-192964000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
45	chr1:192963000-192964000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:192963000-192964000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
47	chr1:192963000-192964000	ZNF genes & repeats	Fetal Thymus	thymus
48	chr1:192963000-192966200	Strong transcription	Primary T cells from cord blood	blood
49	chr1:192963000-192982000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:192963200-192963600	ZNF genes & repeats	Fetal Lung	lung

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