Variant report

Variant	rs12743055
Chromosome Location	chr1:85437996-85437997
allele	A/C
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:22 , 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	chr1:85435600-85438400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:85436800-85438000	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr1:85436800-85438000	Weak transcription	Osteobl	bone
5	chr1:85436800-85438200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:85437200-85438800	Flanking Active TSS	GM12878-XiMat	blood
7	chr1:85437400-85438000	Enhancers	Primary T cells fromperipheralblood	blood
8	chr1:85437400-85438800	Enhancers	Fetal Intestine Large	intestine
9	chr1:85437400-85438800	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr1:85437400-85441200	Enhancers	Primary B cells from peripheral blood	blood
11	chr1:85437400-85441200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr1:85437600-85438000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:85437600-85438200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:85437600-85441200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:85437800-85438600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr1:85437800-85438600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:85437800-85438800	Enhancers	Fetal Intestine Small	intestine
18	chr1:85437800-85438800	Enhancers	Hela-S3	cervix
19	chr1:85437800-85439200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr1:85437800-85439600	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr1:85437800-85439600	Enhancers	NHDF-Ad	bronchial
22	chr1:85437800-85440000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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