Variant report

Variant	rs12760142
Chromosome Location	chr1:47881984-47881985
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	chr1:47873301..47878358-chr1:47879948..47882876,5	K562	blood:

Variant related genes	Relation type
ENSG00000225762	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871961	chr1:47875627-47912628	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv3408231	chr1:47880890-47883738	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3377704	chr1:47881215-47884213	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv546168	chr1:47881978-47882116	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv546169	chr1:47881978-47883019	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1850757	chr1:47881978-47883769	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv546170	chr1:47881978-47889417	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv1795989	chr1:47881984-47883019	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv1800351	chr1:47881984-47883019	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv1809828	chr1:47881984-47883019	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv1834137	chr1:47881984-47883019	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv1835115	chr1:47881984-47883019	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv1835729	chr1:47881984-47883019	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv1798121	chr1:47881984-47883024	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv1797070	chr1:47881984-47889417	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47878000-47882000	Weak transcription	HSMM	muscle
2	chr1:47881000-47882200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:47881000-47884800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr1:47881400-47883400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr1:47881600-47882200	Bivalent Enhancer	Fetal Stomach	stomach
6	chr1:47881600-47882600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr1:47881600-47882600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr1:47881800-47882000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:47881800-47882000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:47881800-47882000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:47881800-47882000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:47881800-47882000	Bivalent Enhancer	Fetal Intestine Large	intestine
13	chr1:47881800-47882000	Flanking Bivalent TSS/Enh	Right Ventricle	heart
14	chr1:47881800-47882000	Bivalent Enhancer	Stomach Mucosa	stomach
15	chr1:47881800-47882200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:47881800-47882200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:47881800-47882200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:47881800-47882200	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr1:47881800-47882200	Bivalent Enhancer	Placenta	Placenta
20	chr1:47881800-47882400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr1:47881800-47882800	Bivalent/Poised TSS	Colonic Mucosa	Colon
22	chr1:47881800-47882800	Enhancers	Gastric	stomach
23	chr1:47881800-47882800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
24	chr1:47881800-47883000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
25	chr1:47881800-47883000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:47881800-47883200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
27	chr1:47881800-47883200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
28	chr1:47881800-47883200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell

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