Variant report

Variant	rs553988266
Chromosome Location	chr1:85438724-85438725
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	chr1:85434009..85435841-chr1:85437123..85439359,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830448	chr1:85294094-85491110	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv470724	chr1:85334788-85585260	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv462383	chr1:85334788-85594466	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv546700	chr1:85334788-85594466	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv947434	chr1:85334915-85594135	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	esv3515392	chr1:85437980-85465392	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv3515393	chr1:85437980-85465392	Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85435200-85440400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
2	chr1:85437200-85438800	Flanking Active TSS	GM12878-XiMat	blood
3	chr1:85437400-85438800	Enhancers	Fetal Intestine Large	intestine
4	chr1:85437400-85438800	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr1:85437400-85441200	Enhancers	Primary B cells from peripheral blood	blood
6	chr1:85437400-85441200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr1:85437600-85441200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:85437800-85438800	Enhancers	Fetal Intestine Small	intestine
9	chr1:85437800-85438800	Enhancers	Hela-S3	cervix
10	chr1:85437800-85439200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr1:85437800-85439600	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr1:85437800-85439600	Enhancers	NHDF-Ad	bronchial
13	chr1:85437800-85440000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:85438000-85438800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:85438000-85439200	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr1:85438000-85439600	Enhancers	Osteobl	bone
17	chr1:85438000-85440200	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr1:85438200-85438800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:85438400-85439200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:85438400-85439600	Enhancers	Primary T cells fromperipheralblood	blood
21	chr1:85438400-85439800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:85438600-85438800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:85438600-85439000	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr1:85438600-85439600	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr1:85438600-85439800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr1:85438600-85440600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr1:85438600-85441000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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