Variant report

Variant	rs79662891
Chromosome Location	chr1:192972028-192972029
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:192970631..192973618-chr1:193027189..193029600,2	K562	blood:
2	chr1:192971893..192973529-chr1:192975096..192977591,2	K562	blood:

Variant related genes	Relation type
ENSG00000116750	Chromatin interaction
ENSG00000116747	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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	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:62 , 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	chr1:192956200-192988400	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:192961200-192983600	Weak transcription	Hela-S3	cervix
9	chr1:192961400-192976000	Weak transcription	HepG2	liver
10	chr1:192961800-192976200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:192962600-192986400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:192963000-192982000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:192963600-192983000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr1:192963800-192972600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:192963800-192973200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:192963800-192974800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:192963800-192981400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:192963800-192981600	Weak transcription	NHLF	lung
19	chr1:192963800-192982000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:192963800-192982200	Weak transcription	Aorta	Aorta
21	chr1:192963800-192983000	Weak transcription	NH-A	brain
22	chr1:192963800-192990000	Weak transcription	HMEC	breast
23	chr1:192963800-192994400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr1:192963800-192996200	Weak transcription	Fetal Lung	lung
25	chr1:192963800-193012400	Weak transcription	NHEK	skin
26	chr1:192963800-193019600	Weak transcription	Ovary	ovary
27	chr1:192964000-192972600	Weak transcription	Fetal Muscle Trunk	muscle
28	chr1:192964000-192973400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr1:192964000-192975000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:192964000-192977200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr1:192964000-192981000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:192964000-192981800	Weak transcription	HSMM	muscle
33	chr1:192964000-192983000	Weak transcription	Fetal Thymus	thymus
34	chr1:192964000-192984600	Weak transcription	Primary B cells from cord blood	blood
35	chr1:192964000-192990400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:192964000-192994400	Weak transcription	Left Ventricle	heart
37	chr1:192965000-192990800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:192966200-192994200	Weak transcription	Primary T cells from cord blood	blood
39	chr1:192966400-192976800	Weak transcription	A549	lung
40	chr1:192966400-192985200	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr1:192967200-192983600	Weak transcription	HUVEC	blood vessel
42	chr1:192967600-192982800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:192967600-192993000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:192968000-192972600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:192968000-192973800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:192968000-192978000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr1:192968000-192981600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:192968000-192984600	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr1:192968000-192992000	Weak transcription	Placenta	Placenta
50	chr1:192968000-193009400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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